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Q9HCJ1 (ANKH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Progressive ankylosis protein homolog

Short name=ANK
Gene names
Name:ANKH
Synonyms:KIAA1581
ORF Names:UNQ241/PRO274
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length492 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.

Subcellular location

Membrane; Multi-pass membrane protein Probable.

Tissue specificity

Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.

Involvement in disease

Chondrocalcinosis 2 (CCAL2) [MIM:118600]: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11

Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Sequence similarities

Belongs to the ANKH family.

Sequence caution

The sequence BAB13407.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 492492Progressive ankylosis protein homolog
PRO_0000137467

Regions

Topological domain1 – 8585Cytoplasmic Potential
Transmembrane86 – 10621Helical; Potential
Topological domain107 – 13125Extracellular Potential
Transmembrane132 – 15221Helical; Potential
Topological domain153 – 1586Cytoplasmic Potential
Transmembrane159 – 17921Helical; Potential
Topological domain180 – 18910Extracellular Potential
Transmembrane190 – 21021Helical; Potential
Topological domain211 – 326116Cytoplasmic Potential
Transmembrane327 – 34721Helical; Potential
Topological domain348 – 3503Extracellular Potential
Transmembrane351 – 37121Helical; Potential
Topological domain372 – 40332Cytoplasmic Potential
Transmembrane404 – 42623Helical; Potential
Topological domain427 – 4293Extracellular Potential
Transmembrane430 – 45223Helical; Potential
Topological domain453 – 49240Cytoplasmic Potential

Natural variations

Natural variant51P → L in CCAL2. Ref.10
VAR_022606
Natural variant51P → T in CCAL2. Ref.11
VAR_022607
Natural variant481M → T in CCAL2. Ref.9
VAR_017556
Natural variant2921W → R in CMDD. Ref.8
VAR_012192
Natural variant3311C → R in CMDD. Ref.8
VAR_012193
Natural variant3751Missing in CMDD. Ref.7 Ref.8
VAR_012194
Natural variant3761Missing in CMDD. Ref.7
VAR_012195
Natural variant3771Missing in CMDD. Ref.8
VAR_012196
Natural variant3801P → PA in CMDD. Ref.7 Ref.8
VAR_012197
Natural variant3891G → R in CMDD. Ref.8
Corresponds to variant rs28939080 [ dbSNP | Ensembl ].
VAR_012198
Natural variant4901Missing in CCAL2; sporadic. Ref.9
VAR_017557

Experimental info

Sequence conflict781N → S in AAF88039. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9HCJ1 [UniParc].

Last modified November 16, 2001. Version 2.
Checksum: 44BFEE9089BDEC6B

FASTA49254,241
        10         20         30         40         50         60 
MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA SYGLAYSLMK 

        70         80         90        100        110        120 
FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF HTLIAYSDLG YYIINKLHHV 

       130        140        150        160        170        180 
DESVGSKTRR AFLYLAAFPF MDAMAWTHAG ILLKHKYSFL VGCASISDVI AQVVFVAILL 

       190        200        210        220        230        240 
HSHLECREPL LIPILSLYMG ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF 

       250        260        270        280        290        300 
WWPLALILAT QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY 

       310        320        330        340        350        360 
PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE KILIDIIGVD 

       370        380        390        400        410        420 
FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL APSSVLRIIV LIASLVVLPY 

       430        440        450        460        470        480 
LGVHGATLGV GSLLAGFVGE STMVAIAACY VYRKQKKKME NESATEGEDS AMTDMPPTEE 

       490 
VTDIVEMREE NE 

« Hide

References

« Hide 'large scale' references
[1]"Role of the mouse ank gene in control of tissue calcification and arthritis."
Ho A.M., Johnson M.D., Kingsley D.M.
Science 289:265-270(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[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., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Cerebellum.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Ovary.
[7]"Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK."
Reichenberger E., Tiziani V., Watanabe S., Park L., Ueki Y., Santanna C., Baur S.T., Shiang R., Grange D.K., Beighton P., Gardner J., Hamersma H., Sellars S., Ramesar R., Lidral A.C., Sommer A., Raposo do Amaral C.M., Gorlin R.J., Mulliken J.B., Olsen B.R.
Am. J. Hum. Genet. 68:1321-1326(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMDD SER-375 DEL; PHE-376 DEL AND ALA-380 INS.
[8]"Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia."
Nuernberg P., Thiele H., Chandler D., Hoehne W., Cunningham M.L., Ritter H., Leschik G., Uhlmann K., Mischung C., Harrop K., Goldblatt J., Borochowitz Z.U., Kotzot D., Westermann F., Mundlos S., Braun H.-S., Laing N., Tinschert S.
Nat. Genet. 28:37-41(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMDD ARG-292; ARG-331; SER-375 DEL; PHE-377 DEL; ALA-380 INS AND ARG-389.
[9]"Mutations in ANKH cause chondrocalcinosis."
Pendleton A., Johnson M.D., Hughes A., Gurley K.A., Ho A.M., Doherty M., Dixey J., Gillet P., Loeuille D., McGrath R., Reginato A., Shiang R., Wright G., Netter P., Williams C., Kingsley D.M.
Am. J. Hum. Genet. 71:933-940(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CCAL2 THR-48 AND GLU-490 DEL.
[10]"Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH."
Williams C.J., Zhang Y., Timms A., Bonavita G., Caeiro F., Broxholme J., Cuthbertson J., Jones Y., Marchegiani R., Reginato A., Russell R.G.G., Wordsworth B.P., Carr A.J., Brown M.A.
Am. J. Hum. Genet. 71:985-991(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CCAL2 LEU-5.
[11]"Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease."
Williams C.J., Pendleton A., Bonavita G., Reginato A.J., Hughes A.E., Peariso S., Doherty M., McCarty D.J., Ryan L.M.
Arthritis Rheum. 48:2627-2631(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CCAL2 THR-5.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF274753 mRNA. Translation: AAF88039.1.
AB046801 mRNA. Translation: BAB13407.1. Different initiation.
AY358503 mRNA. Translation: AAQ88867.1.
AK315012 mRNA. Translation: BAG37504.1.
CH471102 Genomic DNA. Translation: EAX08034.1.
CH471102 Genomic DNA. Translation: EAX08035.1.
BC009835 mRNA. Translation: AAH09835.1.
BC014526 mRNA. Translation: AAH14526.1.
CCDSCCDS3885.1.
RefSeqNP_473368.1. NM_054027.4.
UniGeneHs.156727.

3D structure databases

ProteinModelPortalQ9HCJ1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121103. 3 interactions.
IntActQ9HCJ1. 1 interaction.
STRING9606.ENSP00000284268.

Protein family/group databases

TCDB2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

PTM databases

PhosphoSiteQ9HCJ1.

Polymorphism databases

DMDM17366849.

Proteomic databases

MaxQBQ9HCJ1.
PaxDbQ9HCJ1.
PRIDEQ9HCJ1.

Protocols and materials databases

DNASU56172.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284268; ENSP00000284268; ENSG00000154122.
GeneID56172.
KEGGhsa:56172.
UCSCuc003jfm.4. human.

Organism-specific databases

CTD56172.
GeneCardsGC05M014706.
GeneReviewsANKH.
HGNCHGNC:15492. ANKH.
MIM118600. phenotype.
123000. phenotype.
605145. gene.
neXtProtNX_Q9HCJ1.
Orphanet1522. Craniometaphyseal dysplasia.
1416. Familial calcium pyrophosphate deposition.
PharmGKBPA24801.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG19764.
HOGENOMHOG000033943.
HOVERGENHBG018728.
InParanoidQ9HCJ1.
OMAYMGVHGA.
OrthoDBEOG7KH9JM.
PhylomeDBQ9HCJ1.
TreeFamTF333504.

Gene expression databases

ArrayExpressQ9HCJ1.
BgeeQ9HCJ1.
CleanExHS_ANKH.
GenevestigatorQ9HCJ1.

Family and domain databases

InterProIPR009887. ANKH.
[Graphical view]
PfamPF07260. ANKH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSANKH. human.
GeneWikiANKH.
GenomeRNAi56172.
NextBio61818.
PROQ9HCJ1.
SOURCESearch...

Entry information

Entry nameANKH_HUMAN
AccessionPrimary (citable) accession number: Q9HCJ1
Secondary accession number(s): B2RCA7, D3DTD4, Q9NQW2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: July 9, 2014
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM