ANKH

This article is about the protein. For other uses, see Ankh (disambiguation).

ANKH
Identifiers
Aliases	ANKH , ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator, SLC62A1
External IDs	OMIM: 605145 MGI: 3045421 HomoloGene: 10664 GeneCards: ANKH
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5p15.2 Start 14,704,800 bp [1] End 14,871,778 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 B1|15 10.23 cM Start 27,466,763 bp [2] End 27,594,995 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia parotid gland inferior ganglion of vagus nerve pons right ventricle subthalamic nucleus synovial joint superior vestibular nucleus trigeminal ganglion middle temporal gyrus Top expressed in seminal vesicula right ventricle digastric muscle ankle temporal muscle lip sternocleidomastoid muscle triceps brachii muscle knee joint tibialis anterior muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphate ion transmembrane transporter activity inorganic phosphate transmembrane transporter activity inorganic diphosphate transmembrane transporter activity Cellular component membrane outer membrane integral component of membrane integral component of plasma membrane plasma membrane Biological process skeletal system development transmembrane transport locomotory behavior phosphate ion transport phosphate ion transmembrane transport regulation of bone mineralization inorganic diphosphate transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56172 11732 Ensembl ENSG00000154122 ENSMUSG00000022265 UniProt Q9HCJ1 Q9JHZ2 RefSeq (mRNA) NM_054027 NM_020332 RefSeq (protein) NP_473368 NP_065065 Location (UCSC) Chr 5: 14.7 – 14.87 Mb Chr 15: 27.47 – 27.59 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Progressive ankylosis protein homolog (ANK ilosis H omolog) is a protein that in humans is encoded by the ANKH gene. ^{[5] [6] [7]}

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000154122 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022265 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. Bibcode:2000Sci...289..265H. doi:10.1126/science.289.5477.265. PMID   10894769.
6. 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.
7. "Entrez Gene: ANKH ankylosis, progressive homolog (mouse)".

External links

• GeneReviews/NCBI/NIH/UW entry on Craniometaphyseal Dysplasia
• Human ANKH genome location and ANKH gene details page in the UCSC Genome Browser .

Further reading

• Williams CJ (2003). "Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene". Current Opinion in Rheumatology. 15 (3): 326–31. doi:10.1097/00002281-200305000-00023. PMID   12707589. S2CID   24811510.
• Netter P, Bardin T, Bianchi A, et al. (2005). "The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease". Joint Bone Spine. 71 (5): 365–8. doi:10.1016/j.jbspin.2004.01.011. PMID   15474385.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Hughes AE, McGibbon D, Woodward E, et al. (1996). "Localisation of a gene for chondrocalcinosis to chromosome 5p". Hum. Mol. Genet. 4 (7): 1225–8. doi:10.1093/hmg/4.7.1225. PMID   8528213.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Nürnberg P, Tinschert S, Mrug M, et al. (1997). "The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene". Am. J. Hum. Genet. 61 (4): 918–23. doi:10.1086/514880. PMC   1716005 . PMID   9382103.
• Andrew LJ, Brancolini V, de la Pena LS, et al. (1999). "Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease". Am. J. Hum. Genet. 64 (1): 136–45. doi:10.1086/302186. PMC   1377711 . PMID   9915952.
• Rojas K, Serrano de la Peña L, Gallardo T, et al. (2000). "Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1". Genomics. 62 (2): 177–83. doi:10.1006/geno.1999.5997. PMID   10610710.
• Nagase T, Kikuno R, Nakayama M, et al. (2001). "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". DNA Res. 7 (4): 273–81. doi: 10.1093/dnares/7.4.271 . PMID   10997877.
• Nürnberg P, Thiele H, Chandler D, et al. (2001). "Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia". Nat. Genet. 28 (1): 37–41. doi:10.1038/88236. PMID   11326272.
• Reichenberger E, Tiziani V, Watanabe S, et al. (2001). "Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK". Am. J. Hum. Genet. 68 (6): 1321–6. doi:10.1086/320612. PMC   1226118 . PMID   11326338.
• Nelson PS, Clegg N, Arnold H, et al. (2002). "The program of androgen-responsive genes in neoplastic prostate epithelium". Proceedings of the National Academy of Sciences of the United States of America. 99 (18): 11890–5. Bibcode:2002PNAS...9911890N. doi: 10.1073/pnas.182376299 . PMC   129364 . PMID   12185249.
• Pendleton A, Johnson MD, Hughes A, et al. (2002). "Mutations in ANKH cause chondrocalcinosis". Am. J. Hum. Genet. 71 (4): 933–40. doi:10.1086/343054. PMC   378546 . PMID   12297987.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Tsui FW, Tsui HW, Cheng EY, et al. (2003). "Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis". Arthritis Rheum. 48 (3): 791–7. doi:10.1002/art.10844. PMID   12632434.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Williams CJ, Pendleton A, Bonavita G, et al. (2003). "Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease" (PDF). Arthritis Rheum. 48 (9): 2627–31. doi:10.1002/art.11133. PMID   13130483.