IGHMBP2: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''DNA-binding protein SMUBP-2''', also known as '''immunoglobulin helicase μ-binding protein 2''' (IGHMBP2) and '''cardiac transcription factor 1''' (CATF1) – is a [[protein]] that in humans is encoded by the ''IGHMBP2'' [[gene]].<ref name="pmid8349627">{{cite journal|vauthors=Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T|title=The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region|journal=The Journal of Biological Chemistry|volume=268|issue=23|pages=17463–70|date=August 1993|pmid=8349627}}</ref><ref name="entrez">{{cite web|title=Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3508|accessdate=}}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Mutations in the ''IGHMBP2'' gene cause [[distal spinal muscular atrophy type 1]] ([[distal hereditary motor neuropathy|distal hereditary motor neuropathy type VI]]).<ref>{{cite journal|vauthors=Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C|title=Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1|journal=Nature Genetics|volume=29|issue=1|pages=75–7|date=September 2001|pmid=11528396|pmc=|doi=10.1038/ng703}}</ref>
{{GNF_Protein_box
| image = PBB_Protein_IGHMBP2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1msz.
| PDB = {{PDB2|1msz}}
| Name = Immunoglobulin mu binding protein 2
| HGNCid = 5542
| Symbol = IGHMBP2
| AltSymbols =; CATF1; FLJ34220; FLJ41171; HCSA; SMARD1; SMUBP2
| OMIM = 600502
| ECnumber = 
| Homologene = 1642
| MGIid = 99954
| GeneAtlas_image1 = PBB_GE_IGHMBP2_31861_at_tn.png
| GeneAtlas_image2 = PBB_GE_IGHMBP2_215980_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003678 |text = DNA helicase activity}} {{GNF_GO|id=GO:0003697 |text = single-stranded DNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0017111 |text = nucleoside-triphosphatase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0030424 |text = axon}} {{GNF_GO|id=GO:0043025 |text = cell soma}}
| Process = {{GNF_GO|id=GO:0006260 |text = DNA replication}} {{GNF_GO|id=GO:0006281 |text = DNA repair}} {{GNF_GO|id=GO:0006310 |text = DNA recombination}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3508
    | Hs_Ensembl = ENSG00000132740
    | Hs_RefseqProtein = NP_002171
    | Hs_RefseqmRNA = NM_002180
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 68427927
    | Hs_GenLoc_end = 68464643
    | Hs_Uniprot = P38935
    | Mm_EntrezGene = 20589
    | Mm_Ensembl = ENSMUSG00000024831
    | Mm_RefseqmRNA = NM_009212
    | Mm_RefseqProtein = NP_033238
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 3259364
    | Mm_GenLoc_end = 3282906
    | Mm_Uniprot = P40694
  }}
}}
'''Immunoglobulin mu binding protein 2''', also known as '''IGHMBP2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3508| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== References ==
{{PBB_Summary
{{reflist}}
| section_title =
| summary_text =
}}


==References==
== Further reading ==
{{reflist|2}}
{{refbegin}}
==Further reading==
* {{cite journal|vauthors=Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, Fujioka T, Nihei H, Nakamura Y|title=Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy|journal=Journal of Human Genetics|volume=50|issue=1|pages=30–5|year=2004|pmid=15599641|pmc=|doi=10.1007/s10038-004-0214-8}}
{{refbegin | 2}}
* {{cite journal|vauthors=Tachi N, Kikuchi S, Kozuka N, Nogami A|title=A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1|journal=Pediatric Neurology|volume=32|issue=4|pages=288–90|date=April 2005|pmid=15797190|pmc=|doi=10.1016/j.pediatrneurol.2004.11.003}}
{{PBB_Further_reading
* {{cite journal|vauthors=Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L|title=Allelic heterogeneity of SMARD1 at the IGHMBP2 locus|journal=Human Mutation|volume=23|issue=5|pages=525–6|date=May 2004|pmid=15108294|pmc=|doi=10.1002/humu.9241}}
| citations =
* {{cite journal|vauthors=Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R|title=Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1|journal=Human Genetics|volume=115|issue=4|pages=319–26|date=September 2004|pmid=15290238|pmc=|doi=10.1007/s00439-004-1156-0}}
*{{cite journal | author=Giannini A, Pinto AM, Rossetti G, ''et al.'' |title=Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. |journal=Intensive care medicine |volume=32 |issue= 11 |pages= 1851-5 |year= 2007 |pmid= 16964485 |doi= 10.1007/s00134-006-0346-8 }}
* {{cite journal|vauthors=Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM|title=IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk|journal=Breast Cancer Research and Treatment|volume=99|issue=1|pages=1–7|date=September 2006|pmid=16752224|pmc=|doi=10.1007/s10549-006-9174-3}}
*{{cite journal  | author=Kerr D, Khalili K |title=A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV. |journal=J. Biol. Chem. |volume=266 |issue= 24 |pages= 15876-81 |year= 1991 |pmid= 1714899 |doi=  }}
*{{cite journal  | author=Fukita Y, Mizuta TR, Shirozu M, ''et al.'' |title=The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. |journal=J. Biol. Chem. |volume=268 |issue= 23 |pages= 17463-70 |year= 1993 |pmid= 8349627 |doi=  }}
*{{cite journal  | author=Mizuta TR, Fukita Y, Miyoshi T, ''et al.'' |title=Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences. |journal=Nucleic Acids Res. |volume=21 |issue= 8 |pages= 1761-6 |year= 1993 |pmid= 8493094 |doi=  }}
*{{cite journal  | author=Gulley ML, Zhang Q, Gascoyne RD, ''et al.'' |title=Translocations of 11q13 in mantle cell lymphoma fail to disrupt the S mu bp-2 gene. |journal=Hematopathology and molecular hematology |volume=11 |issue= 1 |pages= 1-11 |year= 1998 |pmid= 9439975 |doi= }}
*{{cite journal  | author=Mohan WS, Chen ZQ, Zhang X, ''et al.'' |title=Human S mu binding protein-2 binds to the drug response element and transactivates the human apoA-I promoter: role of gemfibrozil. |journal=J. Lipid Res. |volume=39 |issue= 2 |pages= 255-67 |year= 1998 |pmid= 9507986 |doi=  }}
*{{cite journal | author=Zhang Q, Wang YC, Montalvo EA |title=Smubp-2 represses the Epstein-Barr virus lytic switch promoter. |journal=Virology |volume=255 |issue= 1 |pages= 160-70 |year= 1999 |pmid= 10049831 |doi= 10.1006/viro.1998.9588 }}
*{{cite journal  | author=Biswas EE, Nagele RG, Biswas S |title=A novel human hexameric DNA helicase: expression, purification and characterization. |journal=Nucleic Acids Res. |volume=29 |issue= 8 |pages= 1733-40 |year= 2001 |pmid= 11292846 |doi=  }}
*{{cite journal  | author=Grohmann K, Schuelke M, Diers A, ''et al.'' |title=Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. |journal=Nat. Genet. |volume=29 |issue= 1 |pages= 75-7 |year= 2001 |pmid= 11528396 |doi= 10.1038/ng703 }}
*{{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=Liepinsh E, Leonchiks A, Sharipo A, ''et al.'' |title=Solution structure of the R3H domain from human Smubp-2. |journal=J. Mol. Biol. |volume=326 |issue= 1 |pages= 217-23 |year= 2003 |pmid= 12547203 |doi=  }}
*{{cite journal | author=Grohmann K, Varon R, Stolz P, ''et al.'' |title=Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). |journal=Ann. Neurol. |volume=54 |issue= 6 |pages= 719-24 |year= 2004 |pmid= 14681881 |doi= 10.1002/ana.10755 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Chen YZ, Bennett CL, Huynh HM, ''et al.'' |title=DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1128-35 |year= 2004 |pmid= 15106121 |doi= 10.1086/421054 }}
*{{cite journal  | author=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315-23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 }}
*{{cite journal | author=Guenther UP, Schuelke M, Bertini E, ''et al.'' |title=Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. |journal=Hum. Genet. |volume=115 |issue= 4 |pages= 319-26 |year= 2005 |pmid= 15290238 |doi= 10.1007/s00439-004-1156-0 }}
*{{cite journal | author=Ohtsubo S, Iida A, Nitta K, ''et al.'' |title=Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy. |journal=J. Hum. Genet. |volume=50 |issue= 1 |pages= 30-5 |year= 2005 |pmid= 15599641 |doi= 10.1007/s10038-004-0214-8 }}
*{{cite journal  | author=Tachi N, Kikuchi S, Kozuka N, Nogami A |title=A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. |journal=Pediatr. Neurol. |volume=32 |issue= 4 |pages= 288-90 |year= 2005 |pmid= 15797190 |doi= 10.1016/j.pediatrneurol.2004.11.003 }}
*{{cite journal  | author=Shen J, Beth Terry M, Gammon MD, ''et al.'' |title=IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk. |journal=Breast Cancer Res. Treat. |volume=99 |issue= 1 |pages= 1-7 |year= 2007 |pmid= 16752224 |doi= 10.1007/s10549-006-9174-3 }}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=3508}}


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Latest revision as of 02:10, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.[1][2]

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).[3]

References

  1. ↑ Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (August 1993). "The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region". The Journal of Biological Chemistry. 268 (23): 17463–70. PMID 8349627.
  2. ↑ "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
  3. ↑ Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C (September 2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396.

Further reading

  • Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, Fujioka T, Nihei H, Nakamura Y (2004). "Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy". Journal of Human Genetics. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
  • Tachi N, Kikuchi S, Kozuka N, Nogami A (April 2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatric Neurology. 32 (4): 288–90. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190.
  • Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L (May 2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–6. doi:10.1002/humu.9241. PMID 15108294.
  • Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R (September 2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238.
  • Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM (September 2006). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk". Breast Cancer Research and Treatment. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224.


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