MID1: Difference between revisions

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Latest revision as of 03:51, 19 October 2018

Midline-1 is a protein found in humans that is encoded by the MID1 gene.^[1]^[2]^[3]

Function

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Several different transcript variants are generated by alternate splicing; however, the full length nature of two variants has not been determined.^[3]

Interactions

MID1 has been shown to interact with MID2.^[4]^[5]

References

↑ Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A (Dec 1997). "Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22". Nat Genet. 17 (3): 285–91. doi:10.1038/ng1197-285. PMID 9354791.
↑ Perry J, Feather S, Smith A, Palmer S, Ashworth A (Mar 1998). "The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome". Hum Mol Genet. 7 (2): 299–305. doi:10.1093/hmg/7.2.299. PMID 9425238.
↑ ^3.0 ^3.1 "Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)".
↑ Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A (May 2001). "The tripartite motif family identifies cell compartments". EMBO J. 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. PMC 125245. PMID 11331580.
↑ Short KM, Hopwood B, Yi Z, Cox TC (2002). "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders". BMC Cell Biol. 3: 1. doi:10.1186/1471-2121-3-1. PMC 64779. PMID 11806752.

De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G (2004). "X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum". Am. J. Med. Genet. A. 120 (2): 222–8. doi:10.1002/ajmg.a.10265. PMID 12833403.
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxová R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM, Muenke M (1996). "Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2". Nat. Genet. 11 (4): 459–61. doi:10.1038/ng1295-459. PMID 7493033.
Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M (1998). "Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain". Am. J. Hum. Genet. 63 (3): 703–10. doi:10.1086/302010. PMC 1377398. PMID 9718340.
Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY (1998). "Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22". Genomics. 51 (2): 251–61. doi:10.1006/geno.1998.5350. PMID 9722948.
Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH (1999). "The Opitz syndrome gene product, MID1, associates with microtubules". Proc. Natl. Acad. Sci. U.S.A. 96 (6): 2794–9. doi:10.1073/pnas.96.6.2794. PMC 15848. PMID 10077590.
Cainarca S, Messali S, Ballabio A, Meroni G (1999). "Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle". Hum. Mol. Genet. 8 (8): 1387–96. doi:10.1093/hmg/8.8.1387. PMID 10400985.
Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK (2000). "New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome". Hum. Mol. Genet. 9 (17): 2553–62. doi:10.1093/hmg/9.17.2553. PMID 11030761.
Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A (2001). "The tripartite motif family identifies cell compartments". EMBO J. 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. PMC 125245. PMID 11331580.
Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL (2001). "Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4". Proc. Natl. Acad. Sci. U.S.A. 98 (12): 6650–5. doi:10.1073/pnas.111154698. PMC 34408. PMID 11371618.
Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S (2001). "MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation". Nat. Genet. 29 (3): 287–94. doi:10.1038/ng762. PMID 11685209.
Short KM, Hopwood B, Yi Z, Cox TC (2002). "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders". BMC Cell Biol. 3: 1. doi:10.1186/1471-2121-3-1. PMC 64779. PMID 11806752.
Landry JR, Mager DL (2003). "Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1". Genomics. 80 (5): 499–508. doi:10.1016/S0888-7543(02)96863-1. PMID 12408967.
Landry JR, Rouhi A, Medstrand P, Mager DL (2003). "The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter". Mol. Biol. Evol. 19 (11): 1934–42. doi:10.1093/oxfordjournals.molbev.a004017. PMID 12411602.
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S (2003). "Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome". Hum. Genet. 112 (3): 249–54. doi:10.1007/s00439-002-0901-5. PMID 12545276.
Granata A, Quaderi NA (2003). "The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node". Dev. Biol. 258 (2): 397–405. doi:10.1016/S0012-1606(03)00131-3. PMID 12798296.
Winter J, Lehmann T, Krauss S, Trockenbacher A, Kijas Z, Foerster J, Suckow V, Yaspo ML, Kulozik A, Kalscheuer V, Schneider R, Schweiger S (2004). "Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing". Hum. Genet. 114 (6): 541–52. doi:10.1007/s00439-004-1114-x. PMID 15057556.

External links

Meroni G (2007-06-20). "X-Linked Opitz G/BBB Syndrome". GeneReviews -- NCBI Bookshelf. the University of Washington, Seattle and the National Center for Biotechnology Information.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

[pmid9354791-1] Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A (Dec 1997). "Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22". Nat Genet. 17 (3): 285–91. doi:10.1038/ng1197-285. PMID 9354791.

[pmid9425238-2] Perry J, Feather S, Smith A, Palmer S, Ashworth A (Mar 1998). "The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome". Hum Mol Genet. 7 (2): 299–305. doi:10.1093/hmg/7.2.299. PMID 9425238.

[entrez-3] 3.0 ^3.1 "Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)".

[pmid11331580-4] Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A (May 2001). "The tripartite motif family identifies cell compartments". EMBO J. 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. PMC 125245. PMID 11331580.

[pmid11806752-5] Short KM, Hopwood B, Yi Z, Cox TC (2002). "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders". BMC Cell Biol. 3: 1. doi:10.1186/1471-2121-3-1. PMC 64779. PMID 11806752.

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@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Midline-1''' is a [[protein]] found in humans that is encoded by the ''MID1'' [[gene]].<ref name="pmid9354791">{{cite journal | vauthors = Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A | title = Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 | journal = Nat Genet | volume = 17 | issue = 3 | pages = 285–91 | date = Dec 1997 | pmid = 9354791 | pmc =  | doi = 10.1038/ng1197-285 }}</ref><ref name="pmid9425238">{{cite journal | vauthors = Perry J, Feather S, Smith A, Palmer S, Ashworth A | title = The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome | journal = Hum Mol Genet | volume = 7 | issue = 2 | pages = 299–305 | date = Mar 1998 | pmid = 9425238 | pmc =  | doi = 10.1093/hmg/7.2.299 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4281| accessdate = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Function ==
-{{GNF_Protein_box
- | image = PBB_Protein_MID1_image.jpg
- | image_source = [[Protein_Data_Bank|PDB]] rendering based on 2dq5.
- | PDB = {{PDB2|2dq5}}, {{PDB2|2ffw}}
- | Name = Midline 1 (Opitz/BBB syndrome)
- | HGNCid = 7095
- | Symbol = MID1
- | AltSymbols =; BBBG1; FXY; GBBB1; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY
- | OMIM = 300552
- | ECnumber =
- | Homologene = 7837
- | MGIid = 1100537
- | GeneAtlas_image1 = PBB_GE_MID1_203637_s_at_tn.png
- | GeneAtlas_image2 = PBB_GE_MID1_203636_at_tn.png
- | Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016874 |text = ligase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
- | Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005874 |text = microtubule}} {{GNF_GO|id=GO:0005875 |text = microtubule associated complex}}
- | Process = {{GNF_GO|id=GO:0000226 |text = microtubule cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0006512 |text = ubiquitin cycle}} {{GNF_GO|id=GO:0007026 |text = negative regulation of microtubule depolymerization}} {{GNF_GO|id=GO:0007389 |text = pattern specification process}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 4281
-    | Hs_Ensembl = ENSG00000101871
-    | Hs_RefseqProtein = NP_000372
-    | Hs_RefseqmRNA = NM_000381
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = X
-    | Hs_GenLoc_start = 10373596
-    | Hs_GenLoc_end = 10761694
-    | Hs_Uniprot = O15344
-    | Mm_EntrezGene = 17318
-    | Mm_Ensembl =
-    | Mm_RefseqmRNA = XM_001004669
-    | Mm_RefseqProtein = XP_001004669
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr =
-    | Mm_GenLoc_start =
-    | Mm_GenLoc_end =
-    | Mm_Uniprot =
-  }}
-}}
-'''Midline 1 (Opitz/BBB syndrome)''', also known as '''MID1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4281| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, [[laryngeal cleft]], heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Several different transcript variants are generated by alternate splicing; however, the full length nature of two variants has not been determined.<ref name="entrez" />
-{{PBB_Summary
-| section_title =
-| summary_text = The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Several different transcript variants are generated by alternate splicing; however, the full length nature of two variants has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: MID1 midline 1 (Opitz/BBB syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4281| accessdate = }}</ref>
-}}
-==References==
+== Interactions ==
-{{reflist|2}}
-==Further reading==
+MID1 has been shown to [[Protein-protein interaction|interact]] with [[MID2]].<ref name=pmid11331580>{{cite journal | vauthors = Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A | title = The tripartite motif family identifies cell compartments | journal = EMBO J. | volume = 20 | issue = 9 | pages = 2140–51 | date = May 2001 | pmid = 11331580 | pmc = 125245 | doi = 10.1093/emboj/20.9.2140 }}</ref><ref name=pmid11806752>{{cite journal | vauthors = Short KM, Hopwood B, Yi Z, Cox TC | title = MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders | journal = BMC Cell Biol. | volume = 3 | pages = 1 | year = 2002 | pmid = 11806752 | pmc = 64779 | doi = 10.1186/1471-2121-3-1 }}</ref>
+== References ==
+{{reflist}}
+== Further reading ==
 {{refbegin | 2}}
-{{PBB_Further_reading
+* {{cite journal | vauthors = De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G | title = X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum | journal = Am. J. Med. Genet. A | volume = 120 | issue = 2 | pages = 222–8 | year = 2004 | pmid = 12833403 | doi = 10.1002/ajmg.a.10265 }}
-| citations =
+* {{cite journal | vauthors = Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxová R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM, Muenke M | title = Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 | journal = Nat. Genet. | volume = 11 | issue = 4 | pages = 459–61 | year = 1996 | pmid = 7493033 | doi = 10.1038/ng1295-459 }}
-*{{cite journal  | author=De Falco F, Cainarca S, Andolfi G, ''et al.'' |title=X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. |journal=Am. J. Med. Genet. A |volume=120 |issue= 2 |pages= 222-8 |year= 2004 |pmid= 12833403 |doi= 10.1002/ajmg.a.10265 }}
+* {{cite journal | vauthors = Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M | title = Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain | journal = Am. J. Hum. Genet. | volume = 63 | issue = 3 | pages = 703–10 | year = 1998 | pmid = 9718340 | pmc = 1377398 | doi = 10.1086/302010 }}
-*{{cite journal  | author=Robin NH, Feldman GJ, Aronson AL, ''et al.'' |title=Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. |journal=Nat. Genet. |volume=11 |issue= 4 |pages= 459-61 |year= 1996 |pmid= 7493033 |doi= 10.1038/ng1295-459 }}
+* {{cite journal | vauthors = Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY | title = Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22 | journal = Genomics | volume = 51 | issue = 2 | pages = 251–61 | year = 1998 | pmid = 9722948 | doi = 10.1006/geno.1998.5350 }}
-*{{cite journal  | author=Quaderi NA, Schweiger S, Gaudenz K, ''et al.'' |title=Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. |journal=Nat. Genet. |volume=17 |issue= 3 |pages= 285-91 |year= 1997 |pmid= 9354791 |doi= 10.1038/ng1197-285 }}
+* {{cite journal | vauthors = Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH | title = The Opitz syndrome gene product, MID1, associates with microtubules | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 96 | issue = 6 | pages = 2794–9 | year = 1999 | pmid = 10077590 | pmc = 15848 | doi = 10.1073/pnas.96.6.2794 }}
-*{{cite journal  | author=Perry J, Feather S, Smith A, ''et al.'' |title=The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome. |journal=Hum. Mol. Genet. |volume=7 |issue= 2 |pages= 299-305 |year= 1998 |pmid= 9425238 |doi=  }}
+* {{cite journal | vauthors = Cainarca S, Messali S, Ballabio A, Meroni G | title = Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle | journal = Hum. Mol. Genet. | volume = 8 | issue = 8 | pages = 1387–96 | year = 1999 | pmid = 10400985 | doi = 10.1093/hmg/8.8.1387 }}
-*{{cite journal  | author=Gaudenz K, Roessler E, Quaderi N, ''et al.'' |title=Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. |journal=Am. J. Hum. Genet. |volume=63 |issue= 3 |pages= 703-10 |year= 1998 |pmid= 9718340 |doi=  }}
+* {{cite journal | vauthors = Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK | title = New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome | journal = Hum. Mol. Genet. | volume = 9 | issue = 17 | pages = 2553–62 | year = 2000 | pmid = 11030761 | doi = 10.1093/hmg/9.17.2553 }}
-*{{cite journal  | author=Van den Veyver IB, Cormier TA, Jurecic V, ''et al.'' |title=Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. |journal=Genomics |volume=51 |issue= 2 |pages= 251-61 |year= 1998 |pmid= 9722948 |doi= 10.1006/geno.1998.5350 }}
+* {{cite journal | vauthors = Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A | title = The tripartite motif family identifies cell compartments | journal = EMBO J. | volume = 20 | issue = 9 | pages = 2140–51 | year = 2001 | pmid = 11331580 | pmc = 125245 | doi = 10.1093/emboj/20.9.2140 }}
-*{{cite journal  | author=Schweiger S, Foerster J, Lehmann T, ''et al.'' |title=The Opitz syndrome gene product, MID1, associates with microtubules. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 6 |pages= 2794-9 |year= 1999 |pmid= 10077590 |doi=  }}
+* {{cite journal | vauthors = Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL | title = Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4 | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 98 | issue = 12 | pages = 6650–5 | year = 2001 | pmid = 11371618 | pmc = 34408 | doi = 10.1073/pnas.111154698 }}
-*{{cite journal  | author=Cainarca S, Messali S, Ballabio A, Meroni G |title=Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. |journal=Hum. Mol. Genet. |volume=8 |issue= 8 |pages= 1387-96 |year= 1999 |pmid= 10400985 |doi=  }}
+* {{cite journal | vauthors = Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S | title = MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation | journal = Nat. Genet. | volume = 29 | issue = 3 | pages = 287–94 | year = 2001 | pmid = 11685209 | doi = 10.1038/ng762 }}
-*{{cite journal  | author=Cox TC, Allen LR, Cox LL, ''et al.'' |title=New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. |journal=Hum. Mol. Genet. |volume=9 |issue= 17 |pages= 2553-62 |year= 2000 |pmid= 11030761 |doi=  }}
+* {{cite journal | vauthors = Short KM, Hopwood B, Yi Z, Cox TC | title = MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders | journal = BMC Cell Biol. | volume = 3 | pages = 1 | year = 2002 | pmid = 11806752 | pmc = 64779 | doi = 10.1186/1471-2121-3-1 }}
-*{{cite journal  | author=Reymond A, Meroni G, Fantozzi A, ''et al.'' |title=The tripartite motif family identifies cell compartments. |journal=EMBO J. |volume=20 |issue= 9 |pages= 2140-51 |year= 2001 |pmid= 11331580 |doi= 10.1093/emboj/20.9.2140 }}
+* {{cite journal | vauthors = Landry JR, Mager DL | title = Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1 | journal = Genomics | volume = 80 | issue = 5 | pages = 499–508 | year = 2003 | pmid = 12408967 | doi = 10.1016/S0888-7543(02)96863-1 }}
-*{{cite journal  | author=Liu J, Prickett TD, Elliott E, ''et al.'' |title=Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 12 |pages= 6650-5 |year= 2001 |pmid= 11371618 |doi= 10.1073/pnas.111154698 }}
+* {{cite journal | vauthors = Landry JR, Rouhi A, Medstrand P, Mager DL | title = The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter | journal = Mol. Biol. Evol. | volume = 19 | issue = 11 | pages = 1934–42 | year = 2003 | pmid = 12411602 | doi = 10.1093/oxfordjournals.molbev.a004017 }}
-*{{cite journal  | author=Trockenbacher A, Suckow V, Foerster J, ''et al.'' |title=MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 287-94 |year= 2001 |pmid= 11685209 |doi= 10.1038/ng762 }}
+* {{cite journal | vauthors = Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S | title = Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome | journal = Hum. Genet. | volume = 112 | issue = 3 | pages = 249–54 | year = 2003 | pmid = 12545276 | doi = 10.1007/s00439-002-0901-5 }}
-*{{cite journal  | author=Short KM, Hopwood B, Yi Z, Cox TC |title=MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. |journal=BMC Cell Biol. |volume=3 |issue=  |pages= 1 |year= 2002 |pmid= 11806752 |doi=  }}
+* {{cite journal | vauthors = Granata A, Quaderi NA | title = The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node | journal = Dev. Biol. | volume = 258 | issue = 2 | pages = 397–405 | year = 2003 | pmid = 12798296 | doi = 10.1016/S0012-1606(03)00131-3 }}
-*{{cite journal  | author=Landry JR, Mager DL |title=Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1. |journal=Genomics |volume=80 |issue= 5 |pages= 499-508 |year= 2003 |pmid= 12408967 |doi=  }}
+* {{cite journal | vauthors = Winter J, Lehmann T, Krauss S, Trockenbacher A, Kijas Z, Foerster J, Suckow V, Yaspo ML, Kulozik A, Kalscheuer V, Schneider R, Schweiger S | title = Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing | journal = Hum. Genet. | volume = 114 | issue = 6 | pages = 541–52 | year = 2004 | pmid = 15057556 | doi = 10.1007/s00439-004-1114-x }}
-*{{cite journal  | author=Landry JR, Rouhi A, Medstrand P, Mager DL |title=The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter. |journal=Mol. Biol. Evol. |volume=19 |issue= 11 |pages= 1934-42 |year= 2003 |pmid= 12411602 |doi=  }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
-*{{cite journal  | author=Winter J, Lehmann T, Suckow V, ''et al.'' |title=Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. |journal=Hum. Genet. |volume=112 |issue= 3 |pages= 249-54 |year= 2003 |pmid= 12545276 |doi= 10.1007/s00439-002-0901-5 }}
-*{{cite journal  | author=Granata A, Quaderi NA |title=The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node. |journal=Dev. Biol. |volume=258 |issue= 2 |pages= 397-405 |year= 2003 |pmid= 12798296 |doi=  }}
-*{{cite journal  | author=Winter J, Lehmann T, Krauss S, ''et al.'' |title=Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. |journal=Hum. Genet. |volume=114 |issue= 6 |pages= 541-52 |year= 2004 |pmid= 15057556 |doi= 10.1007/s00439-004-1114-x }}
-}}
 {{refend}}
-{{protein-stub}}
+== External links ==
-{{WikiDoc Sources}}
+* {{cite web | url = https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=opitz | title = X-Linked Opitz G/BBB Syndrome  | author = Meroni G | date = 2007-06-20 | work = GeneReviews -- NCBI Bookshelf | publisher = the University of Washington, Seattle and the National Center for Biotechnology Information| pages = | archiveurl = | archivedate = | quote = | accessdate = }}
+{{PDB Gallery|geneid=4281}}
+{{gene-X-stub}}

MID1: Difference between revisions

Latest revision as of 03:51, 19 October 2018

Contents

Function

Interactions

References

Further reading

External links

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