ANKH

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

Progressive ankylosis protein homolog (ANK ilosis H omolog) is a protein that in humans is encoded by the ANKH gene. ANKH is a multipass transmembrane protein that is expressed in joints and other tissues. It is involved in transport of pyrophosphate (an inhibitor of hydroxyapatite precipitation) from cells into the extracellular space. It is expressed in osteoblasts. Deficiencies of ANKH are associated with excessive calcification of bone and with metastatic calcification.

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; OMA:ANKH - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5p15.2 Start 14,704,800 bp End 14,871,778 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 B1|15 10.23 cM Start 27,466,763 bp End 27,594,995 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia parotid gland inferior ganglion of vagus nerve pons right ventricle Skeletal muscle tissue of biceps brachii subthalamic nucleus synovial joint superior vestibular nucleus Skeletal muscle tissue of rectus abdominis Top expressed in seminal vesicula right ventricle digastric muscle ankle temporal muscle lip muscle of thigh sternocleidomastoid muscle triceps brachii muscle deep cerebellar nuclei 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
Wikidata
View/Edit Human View/Edit Mouse

Research

In a mouse model, mutation at the 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.

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 (May 2003). "Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene". Current Opinion in Rheumatology. 15 (3): 326–331. doi:10.1097/00002281-200305000-00023. PMID 12707589. S2CID 24811510.
• Netter P, Bardin T, Bianchi A, Richette P, Loeuille D (Sep 2004). "The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease". Joint Bone Spine. 71 (5): 365–368. doi:10.1016/j.jbspin.2004.01.011. PMID 15474385.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Hughes AE, McGibbon D, Woodward E, Dixey J, Doherty M (Jul 1995). "Localisation of a gene for chondrocalcinosis to chromosome 5p". Human Molecular Genetics. 4 (7): 1225–1228. doi:10.1093/hmg/4.7.1225. PMID 8528213.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Nurnberg P, Tinschert S, Mrug M, Hampe J, Muller CR, Fuhrmann E, et al. (Oct 1997). "The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene". American Journal of Human Genetics. 61 (4): 918–923. doi:10.1086/514880. PMC 1716005. PMID 9382103.
• Andrew LJ, Brancolini V, Pena LS, Devoto M, Caeiro F, Marchegiani R, et al. (Jan 1999). "Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease". American Journal of Human Genetics. 64 (1): 136–145. doi:10.1086/302186. PMC 1377711. PMID 9915952.
• Rojas K, Pena L, Gallardo T, Simmons A, Nyce K, McGrath R, et al. (Dec 1999). "Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1". Genomics. 62 (2): 177–183. doi:10.1006/geno.1999.5997. PMID 10610710.
• Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (Aug 2000). "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 Research. 7 (4): 273–281. doi:10.1093/dnares/7.4.271. PMID 10997877.
• Nürnberg P, Thiele H, Chandler D (May 2001). "Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia". Nature Genetics. 28 (1): 37–41. doi:10.1038/88236. PMID 11326272.
• Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, et al. (Jun 2001). "Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK". American Journal of Human Genetics. 68 (6): 1321–1326. doi:10.1086/320612. PMC 1226118. PMID 11326338.
• Nelson PS, Clegg N, Arnold H, Ferguson C, Bonham M, White J, et al. (Sep 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): 11890–11895. Bibcode:2002PNAS...9911890N. doi:10.1073/pnas.182376299. PMC 129364. PMID 12185249.
• Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, et al. (Oct 2002). "Mutations in ANKH cause chondrocalcinosis". American Journal of Human Genetics. 71 (4): 933–940. doi:10.1086/343054. PMC 378546. PMID 12297987.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (Dec 2002). "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): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Tsui FW, Tsui HW, Cheng EY, Stone M, Payne U, Reveille JD, et al. (Mar 2003). "Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis". Arthritis and Rheumatism. 48 (3): 791–797. doi:10.1002/art.10844. PMID 12632434.
• Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–2270. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Williams CJ, Pendleton A, Bonavita G, Reginato AJ, Hughes AE, Peariso S, et al. (Sep 2003). "Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease" (PDF). Arthritis and Rheumatism. 48 (9): 2627–2631. doi:10.1002/art.11133. PMID 13130483.