ANKH: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS)
 
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
'''Progressive ankylosis protein homolog''' is a [[protein]] that in humans is encoded by the ''ANKH'' [[gene]].<ref name="pmid10894769">{{cite journal | vauthors = Ho AM, Johnson MD, Kingsley DM | title = Role of the mouse ank gene in control of tissue calcification and arthritis | journal = Science | volume = 289 | issue = 5477 | pages = 265–70 |date=Jul 2000 | pmid = 10894769 | pmc =  | doi =10.1126/science.289.5477.265 }}</ref><ref name="pmid12297989">{{cite journal | vauthors = Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA | title = Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH | journal = Am J Hum Genet | volume = 71 | issue = 4 | pages = 985–91 |date=Sep 2002 | pmid = 12297989 | pmc = 419998 | doi = 10.1086/343053 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ANKH ankylosis, progressive homolog (mouse)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56172| 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. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Ankylosis, progressive homolog (mouse)
| HGNCid = 15492
| Symbol = ANKH
| AltSymbols =; ANK; CCAL2; CMDJ; CPPDD; FLJ27166; HANK; MANK
| OMIM = 605145
| ECnumber =
| Homologene = 10664
| MGIid = 3045421
  | GeneAtlas_image1 = PBB_GE_ANKH_220076_at_tn.png
  | Function = {{GNF_GO|id=GO:0005315 |text = inorganic phosphate transmembrane transporter activity}} {{GNF_GO|id=GO:0015114 |text = phosphate transmembrane transporter activity}} {{GNF_GO|id=GO:0030504 |text = inorganic diphosphate transmembrane transporter activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0019867 |text = outer membrane}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006817 |text = phosphate transport}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0007626 |text = locomotory behavior}} {{GNF_GO|id=GO:0030500 |text = regulation of bone mineralization}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 56172
    | Hs_Ensembl = ENSG00000154122
    | Hs_RefseqProtein = XP_001132013
    | Hs_RefseqmRNA = XM_001132013
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 14757913
    | Hs_GenLoc_end = 14925459
    | Hs_Uniprot = Q9HCJ1
    | Mm_EntrezGene = 11732
    | Mm_Ensembl = ENSMUSG00000022265
    | Mm_RefseqmRNA = NM_020332
    | Mm_RefseqProtein = NP_065065
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 15
    | Mm_GenLoc_start = 27411402
    | Mm_GenLoc_end = 27539630
    | Mm_Uniprot = Q3UG85
  }}
}}
'''Ankylosis, progressive homolog (mouse)''', also known as '''ANKH''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ANKH ankylosis, progressive homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56172| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =
| summary_text = This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.<ref name="entrez">{{cite web | title = Entrez Gene: ANKH ankylosis, progressive homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56172| accessdate = }}</ref>
| summary_text = This gene encodes a multipass [[transmembrane]] protein that is expressed in joints and other tissues and controls [[pyrophosphate]] levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (ank) locus causes a generalized, progressive form of [[arthritis]] accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human [[homolog]] is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating [[tissue calcification]] and susceptibility to arthritis in higher animals.<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cranio-md  GeneReviews/NCBI/NIH/UW entry on Craniometaphyseal Dysplasia]
* {{UCSC gene info|ANKH}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Williams CJ |title=Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. |journal=Current opinion in rheumatology |volume=15 |issue= 3 |pages= 326-31 |year= 2003 |pmid= 12707589 |doi=  }}
*{{cite journal  | author=Williams CJ |title=Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. |journal=Current Opinion in Rheumatology |volume=15 |issue= 3 |pages= 326–31 |year= 2003 |pmid= 12707589 |doi=10.1097/00002281-200305000-00023 }}
*{{cite journal  | author=Netter P, Bardin T, Bianchi A, ''et al.'' |title=The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. |journal=Joint Bone Spine |volume=71 |issue= 5 |pages= 365-8 |year= 2005 |pmid= 15474385 |doi= 10.1016/j.jbspin.2004.01.011 }}
*{{cite journal  | vauthors=Netter P, Bardin T, Bianchi A |title=The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. |journal=Joint Bone Spine |volume=71 |issue= 5 |pages= 365–8 |year= 2005 |pmid= 15474385 |doi= 10.1016/j.jbspin.2004.01.011 |display-authors=etal}}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Hughes AE, McGibbon D, Woodward E, ''et al.'' |title=Localisation of a gene for chondrocalcinosis to chromosome 5p. |journal=Hum. Mol. Genet. |volume=4 |issue= 7 |pages= 1225-8 |year= 1996 |pmid= 8528213 |doi=  }}
*{{cite journal  | vauthors=Hughes AE, McGibbon D, Woodward E |title=Localisation of a gene for chondrocalcinosis to chromosome 5p. |journal=Hum. Mol. Genet. |volume=4 |issue= 7 |pages= 1225–8 |year= 1996 |pmid= 8528213 |doi=10.1093/hmg/4.7.1225 |display-authors=etal}}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
*{{cite journal  | author=Nürnberg P, Tinschert S, Mrug M, ''et al.'' |title=The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 918-23 |year= 1997 |pmid= 9382103 |doi=  }}
*{{cite journal  | vauthors=Nürnberg P, Tinschert S, Mrug M |title=The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 918–23 |year= 1997 |pmid= 9382103 |doi=10.1086/514880  | pmc=1716005 |display-authors=etal}}
*{{cite journal  | author=Andrew LJ, Brancolini V, de la Pena LS, ''et al.'' |title=Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 136-45 |year= 1999 |pmid= 9915952 |doi=  }}
*{{cite journal  | vauthors=Andrew LJ, Brancolini V, de la Pena LS |title=Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 136–45 |year= 1999 |pmid= 9915952 |doi=10.1086/302186 | pmc=1377711  |display-authors=etal}}
*{{cite journal  | author=Rojas K, Serrano de la Peña L, Gallardo T, ''et al.'' |title=Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. |journal=Genomics |volume=62 |issue= 2 |pages= 177-83 |year= 2000 |pmid= 10610710 |doi= 10.1006/geno.1999.5997 }}
*{{cite journal  | vauthors=Rojas K, Serrano de la Peña L, Gallardo T |title=Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. |journal=Genomics |volume=62 |issue= 2 |pages= 177–83 |year= 2000 |pmid= 10610710 |doi= 10.1006/geno.1999.5997 |display-authors=etal}}
*{{cite journal  | author=Ho AM, Johnson MD, Kingsley DM |title=Role of the mouse ank gene in control of tissue calcification and arthritis. |journal=Science |volume=289 |issue= 5477 |pages= 265-70 |year= 2000 |pmid= 10894769 |doi=  }}
*{{cite journal  | vauthors=Nagase T, Kikuno R, Nakayama M |title=Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi=  10.1093/dnares/7.4.271|display-authors=etal}}
*{{cite journal  | author=Nagase T, Kikuno R, Nakayama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273-81 |year= 2001 |pmid= 10997877 |doi=  }}
*{{cite journal  | vauthors=Nürnberg P, Thiele H, Chandler D |title=Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. |journal=Nat. Genet. |volume=28 |issue= 1 |pages= 37–41 |year= 2001 |pmid= 11326272 |doi= 10.1038/88236 |display-authors=etal}}
*{{cite journal  | author=Nürnberg P, Thiele H, Chandler D, ''et al.'' |title=Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. |journal=Nat. Genet. |volume=28 |issue= 1 |pages= 37-41 |year= 2001 |pmid= 11326272 |doi= 10.1038/88236 }}
*{{cite journal  | vauthors=Reichenberger E, Tiziani V, Watanabe S |title=Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1321–6 |year= 2001 |pmid= 11326338 |doi=10.1086/320612  | pmc=1226118 |display-authors=etal}}
*{{cite journal  | author=Reichenberger E, Tiziani V, Watanabe S, ''et al.'' |title=Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1321-6 |year= 2001 |pmid= 11326338 |doi=  }}
*{{cite journal  | vauthors=Nelson PS, Clegg N, Arnold H |title=The program of androgen-responsive genes in neoplastic prostate epithelium. |journal=Proceedings of the National Academy of Sciences of the United States of America |volume=99 |issue= 18 |pages= 11890–5 |year= 2002 |pmid= 12185249 |doi= 10.1073/pnas.182376299 | pmc=129364 |display-authors=etal}}
*{{cite journal  | author=Nelson PS, Clegg N, Arnold H, ''et al.'' |title=The program of androgen-responsive genes in neoplastic prostate epithelium. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 18 |pages= 11890-5 |year= 2002 |pmid= 12185249 |doi= 10.1073/pnas.182376299 }}
*{{cite journal  | vauthors=Pendleton A, Johnson MD, Hughes A |title=Mutations in ANKH cause chondrocalcinosis. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 933–40 |year= 2002 |pmid= 12297987 |doi=10.1086/343054 | pmc=378546  |display-authors=etal}}
*{{cite journal  | author=Pendleton A, Johnson MD, Hughes A, ''et al.'' |title=Mutations in ANKH cause chondrocalcinosis. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 933-40 |year= 2002 |pmid= 12297987 |doi= }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proceedings of the National Academy of Sciences of the United States of America |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal | author=Williams CJ, Zhang Y, Timms A, ''et al.'' |title=Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 985-91 |year= 2002 |pmid= 12297989 |doi=  }}
*{{cite journal  | vauthors=Tsui FW, Tsui HW, Cheng EY |title=Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis. |journal=Arthritis Rheum. |volume=48 |issue= 3 |pages= 791–7 |year= 2003 |pmid= 12632434 |doi= 10.1002/art.10844 |display-authors=etal}}
*{{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  | vauthors=Clark HF, Gurney AL, Abaya E |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |display-authors=etal}}
*{{cite journal  | author=Tsui FW, Tsui HW, Cheng EY, ''et al.'' |title=Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis. |journal=Arthritis Rheum. |volume=48 |issue= 3 |pages= 791-7 |year= 2003 |pmid= 12632434 |doi= 10.1002/art.10844 }}
*{{cite journal  | vauthors=Williams CJ, Pendleton A, Bonavita G |title=Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. |journal=Arthritis Rheum. |volume=48 |issue= 9 |pages= 2627–31 |year= 2003 |pmid= 13130483 |doi= 10.1002/art.11133 |display-authors=etal}}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal  | author=Williams CJ, Pendleton A, Bonavita G, ''et al.'' |title=Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. |journal=Arthritis Rheum. |volume=48 |issue= 9 |pages= 2627-31 |year= 2003 |pmid= 13130483 |doi= 10.1002/art.11133 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{WikiDoc Sources}}
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
 
{{gene-5-stub}}

Latest revision as of 18:01, 29 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

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

Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.[1][2][3]

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.[3]

References

  1. ↑ Ho AM, Johnson MD, Kingsley DM (Jul 2000). "Role of the mouse ank gene in control of tissue calcification and arthritis". Science. 289 (5477): 265–70. doi:10.1126/science.289.5477.265. PMID 10894769.
  2. ↑ Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA (Sep 2002). "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH". Am J Hum Genet. 71 (4): 985–91. doi:10.1086/343053. PMC 419998. PMID 12297989.
  3. ↑ 3.0 3.1 "Entrez Gene: ANKH ankylosis, progressive homolog (mouse)".

External links

Further reading



Retrieved from "https://www.wikidoc.org/index.php?title=ANKH&oldid=1420306"