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|---|---|
| Accession Number: | Q9HCJ1 |
| Protein Name: | Progressive ankylosis protein homolog |
| Length: | 492 |
| Molecular Weight: | 54241.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 12 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | ATP, diphosphate(4-) |
Cross database links:
| RefSeq: | NP_473368.1 |
|---|---|
| Entrez Gene ID: | 56172 |
| Pfam: | PF07260 |
| OMIM: |
118600 phenotype 123000 phenotype 605145 gene |
| KEGG: | hsa:56172 |
Gene Ontology
GO:0019867
C:outer membrane
GO:0030504
F:inorganic diphosphate transmembrane transpo...
GO:0005315
F:inorganic phosphate transmembrane transport...
GO:0007626
P:locomotory behavior
GO:0006817
P:phosphate transport
GO:0030500
P:regulation of bone mineralization
GO:0001501
P:skeletal system development
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References (10)[1] “Role of the mouse ank gene in control of tissue calcification and arthritis.” Ho A.M.et.al. 10894769 [2] “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.” Nagase T.et.al. 10997877 [3] “The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.” Clark H.F.et.al. 12975309 [4] “Complete sequencing and characterization of 21,243 full-length human cDNAs.” Ota T.et.al. 14702039 [5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [6] “Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.” Reichenberger E.et.al. 11326338 [7] “Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.” Nuernberg P.et.al. 11326272 [8] “Mutations in ANKH cause chondrocalcinosis.” Pendleton A.et.al. 12297987 [9] “Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.” Williams C.J.et.al. 12297989 [10] “Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.” Williams C.J.et.al. 13130483
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA SYGLAYSLMK 61: FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF HTLIAYSDLG YYIINKLHHV 121: DESVGSKTRR AFLYLAAFPF MDAMAWTHAG ILLKHKYSFL VGCASISDVI AQVVFVAILL 181: HSHLECREPL LIPILSLYMG ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF 241: WWPLALILAT QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY 301: PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE KILIDIIGVD 361: FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL APSSVLRIIV LIASLVVLPY 421: LGVHGATLGV GSLLAGFVGE STMVAIAACY VYRKQKKKME NESATEGEDS AMTDMPPTEE 481: VTDIVEMREE NE