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2.A.66.9.1
The progressive ankylosis (ANK) protein (AnkH) gives rise to craniometaphyseal bone dysplasia in man. This 12 TMS protein transports pyrophosphate and is expressed in the primary ciliary/basal body complex of kidney and bone tissues (Nürnberg et al., 2001; Carr et al. 2009). It is critical for the regulation of pyrophosphate, and gain of function ANK mutations are associated with calcium pyrophosphate deposition disease (Mitton-Fitzgerald et al. 2016).  

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 pyrophosphate

Cross database links:

Genevestigator: Q9HCJ1
HEGENOM: HBG445928
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

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

External Searches:

  • Search: DB with
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  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
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