Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Progressive ankylosis protein homolog

Gene

ANKH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

  • locomotory behavior Source: UniProtKB
  • regulation of bone mineralization Source: UniProtKB
  • skeletal system development Source: UniProtKB
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Phosphate transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000154122-MONOMER.
ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.

Protein family/group databases

TCDBi2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Progressive ankylosis protein homolog
Short name:
ANK
Gene namesi
Name:ANKH
Synonyms:KIAA1581
ORF Names:UNQ241/PRO274
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:15492. ANKH.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 85CytoplasmicSequence analysisAdd BLAST85
Transmembranei86 – 106HelicalSequence analysisAdd BLAST21
Topological domaini107 – 131ExtracellularSequence analysisAdd BLAST25
Transmembranei132 – 152HelicalSequence analysisAdd BLAST21
Topological domaini153 – 158CytoplasmicSequence analysis6
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Topological domaini180 – 189ExtracellularSequence analysis10
Transmembranei190 – 210HelicalSequence analysisAdd BLAST21
Topological domaini211 – 326CytoplasmicSequence analysisAdd BLAST116
Transmembranei327 – 347HelicalSequence analysisAdd BLAST21
Topological domaini348 – 350ExtracellularSequence analysis3
Transmembranei351 – 371HelicalSequence analysisAdd BLAST21
Topological domaini372 – 403CytoplasmicSequence analysisAdd BLAST32
Transmembranei404 – 426HelicalSequence analysisAdd BLAST23
Topological domaini427 – 429ExtracellularSequence analysis3
Transmembranei430 – 452HelicalSequence analysisAdd BLAST23
Topological domaini453 – 492CytoplasmicSequence analysisAdd BLAST40

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • outer membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Chondrocalcinosis 2 (CCAL2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionChondrocalcinosis 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.
See also OMIM:118600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0226065P → L in CCAL2. 1 PublicationCorresponds to variant rs121908409dbSNPEnsembl.1
Natural variantiVAR_0226075P → T in CCAL2. 1 PublicationCorresponds to variant rs121908410dbSNPEnsembl.1
Natural variantiVAR_01755648M → T in CCAL2. 1 PublicationCorresponds to variant rs121908407dbSNPEnsembl.1
Natural variantiVAR_017557490Missing in CCAL2; sporadic. 1 Publication1
Craniometaphyseal dysplasia, autosomal dominant (CMDD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:123000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012192292W → R in CMDD. 1 Publication1
Natural variantiVAR_012193331C → R in CMDD. 1 Publication1
Natural variantiVAR_012194375Missing in CMDD. 2 Publications1
Natural variantiVAR_012195376Missing in CMDD. 1 Publication1
Natural variantiVAR_012196377Missing in CMDD. 1 Publication1
Natural variantiVAR_012197380P → PA in CMDD. 2 Publications1
Natural variantiVAR_012198389G → R in CMDD. 1 PublicationCorresponds to variant rs28939080dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi56172.
MalaCardsiANKH.
MIMi118600. phenotype.
123000. phenotype.
OpenTargetsiENSG00000154122.
Orphaneti1522. Craniometaphyseal dysplasia.
1416. Familial calcium pyrophosphate deposition.
PharmGKBiPA24801.

Polymorphism and mutation databases

BioMutaiANKH.
DMDMi17366849.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001374671 – 492Progressive ankylosis protein homologAdd BLAST492

Proteomic databases

EPDiQ9HCJ1.
MaxQBiQ9HCJ1.
PaxDbiQ9HCJ1.
PeptideAtlasiQ9HCJ1.
PRIDEiQ9HCJ1.

PTM databases

iPTMnetiQ9HCJ1.
PhosphoSitePlusiQ9HCJ1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000154122.
CleanExiHS_ANKH.
ExpressionAtlasiQ9HCJ1. baseline and differential.
GenevisibleiQ9HCJ1. HS.

Organism-specific databases

HPAiHPA068104.

Interactioni

Protein-protein interaction databases

BioGridi121103. 2 interactors.
IntActiQ9HCJ1. 1 interactor.
STRINGi9606.ENSP00000284268.

Structurei

3D structure databases

ProteinModelPortaliQ9HCJ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ANKH family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH1E. Eukaryota.
ENOG410ZCHM. LUCA.
GeneTreeiENSGT00390000012189.
HOGENOMiHOG000033943.
HOVERGENiHBG018728.
InParanoidiQ9HCJ1.
OMAiYMGVHGA.
OrthoDBiEOG091G0587.
PhylomeDBiQ9HCJ1.
TreeFamiTF333504.

Family and domain databases

InterProiIPR009887. ANKH.
[Graphical view]
PfamiPF07260. ANKH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HCJ1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA
60 70 80 90 100
SYGLAYSLMK FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF
110 120 130 140 150
HTLIAYSDLG YYIINKLHHV DESVGSKTRR AFLYLAAFPF MDAMAWTHAG
160 170 180 190 200
ILLKHKYSFL VGCASISDVI AQVVFVAILL HSHLECREPL LIPILSLYMG
210 220 230 240 250
ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF WWPLALILAT
260 270 280 290 300
QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY
310 320 330 340 350
PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE
360 370 380 390 400
KILIDIIGVD FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL
410 420 430 440 450
APSSVLRIIV LIASLVVLPY LGVHGATLGV GSLLAGFVGE STMVAIAACY
460 470 480 490
VYRKQKKKME NESATEGEDS AMTDMPPTEE VTDIVEMREE NE
Length:492
Mass (Da):54,241
Last modified:November 16, 2001 - v2
Checksum:i44BFEE9089BDEC6B
GO
Isoform 2 (identifier: Q9HCJ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: Missing.

Note: No experimental confirmation available.
Show »
Length:294
Mass (Da):32,259
Checksum:iED76E746015E449A
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti78N → S in AAF88039 (PubMed:10894769).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0226065P → L in CCAL2. 1 PublicationCorresponds to variant rs121908409dbSNPEnsembl.1
Natural variantiVAR_0226075P → T in CCAL2. 1 PublicationCorresponds to variant rs121908410dbSNPEnsembl.1
Natural variantiVAR_01755648M → T in CCAL2. 1 PublicationCorresponds to variant rs121908407dbSNPEnsembl.1
Natural variantiVAR_012192292W → R in CMDD. 1 Publication1
Natural variantiVAR_012193331C → R in CMDD. 1 Publication1
Natural variantiVAR_012194375Missing in CMDD. 2 Publications1
Natural variantiVAR_012195376Missing in CMDD. 1 Publication1
Natural variantiVAR_012196377Missing in CMDD. 1 Publication1
Natural variantiVAR_012197380P → PA in CMDD. 2 Publications1
Natural variantiVAR_012198389G → R in CMDD. 1 PublicationCorresponds to variant rs28939080dbSNPEnsembl.1
Natural variantiVAR_017557490Missing in CCAL2; sporadic. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0558241 – 198Missing in isoform 2. 1 PublicationAdd BLAST198

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF274753 mRNA. Translation: AAF88039.1.
AB046801 mRNA. Translation: BAB13407.1. Different initiation.
AY358503 mRNA. Translation: AAQ88867.1.
AK001799 mRNA. Translation: BAG50976.1.
AC010491 Genomic DNA. No translation available.
AC016575 Genomic DNA. No translation available.
AC025456 Genomic DNA. No translation available.
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.
CCDSiCCDS3885.1. [Q9HCJ1-1]
RefSeqiNP_473368.1. NM_054027.4. [Q9HCJ1-1]
UniGeneiHs.156727.

Genome annotation databases

EnsembliENST00000284268; ENSP00000284268; ENSG00000154122. [Q9HCJ1-1]
GeneIDi56172.
KEGGihsa:56172.
UCSCiuc003jfm.5. human. [Q9HCJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF274753 mRNA. Translation: AAF88039.1.
AB046801 mRNA. Translation: BAB13407.1. Different initiation.
AY358503 mRNA. Translation: AAQ88867.1.
AK001799 mRNA. Translation: BAG50976.1.
AC010491 Genomic DNA. No translation available.
AC016575 Genomic DNA. No translation available.
AC025456 Genomic DNA. No translation available.
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.
CCDSiCCDS3885.1. [Q9HCJ1-1]
RefSeqiNP_473368.1. NM_054027.4. [Q9HCJ1-1]
UniGeneiHs.156727.

3D structure databases

ProteinModelPortaliQ9HCJ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121103. 2 interactors.
IntActiQ9HCJ1. 1 interactor.
STRINGi9606.ENSP00000284268.

Protein family/group databases

TCDBi2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

PTM databases

iPTMnetiQ9HCJ1.
PhosphoSitePlusiQ9HCJ1.

Polymorphism and mutation databases

BioMutaiANKH.
DMDMi17366849.

Proteomic databases

EPDiQ9HCJ1.
MaxQBiQ9HCJ1.
PaxDbiQ9HCJ1.
PeptideAtlasiQ9HCJ1.
PRIDEiQ9HCJ1.

Protocols and materials databases

DNASUi56172.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284268; ENSP00000284268; ENSG00000154122. [Q9HCJ1-1]
GeneIDi56172.
KEGGihsa:56172.
UCSCiuc003jfm.5. human. [Q9HCJ1-1]

Organism-specific databases

CTDi56172.
DisGeNETi56172.
GeneCardsiANKH.
GeneReviewsiANKH.
HGNCiHGNC:15492. ANKH.
HPAiHPA068104.
MalaCardsiANKH.
MIMi118600. phenotype.
123000. phenotype.
605145. gene.
neXtProtiNX_Q9HCJ1.
OpenTargetsiENSG00000154122.
Orphaneti1522. Craniometaphyseal dysplasia.
1416. Familial calcium pyrophosphate deposition.
PharmGKBiPA24801.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH1E. Eukaryota.
ENOG410ZCHM. LUCA.
GeneTreeiENSGT00390000012189.
HOGENOMiHOG000033943.
HOVERGENiHBG018728.
InParanoidiQ9HCJ1.
OMAiYMGVHGA.
OrthoDBiEOG091G0587.
PhylomeDBiQ9HCJ1.
TreeFamiTF333504.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000154122-MONOMER.
ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.

Miscellaneous databases

ChiTaRSiANKH. human.
GeneWikiiANKH.
GenomeRNAii56172.
PROiQ9HCJ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154122.
CleanExiHS_ANKH.
ExpressionAtlasiQ9HCJ1. baseline and differential.
GenevisibleiQ9HCJ1. HS.

Family and domain databases

InterProiIPR009887. ANKH.
[Graphical view]
PfamiPF07260. ANKH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANKH_HUMAN
AccessioniPrimary (citable) accession number: Q9HCJ1
Secondary accession number(s): B2RCA7
, B3KMG4, D3DTD4, Q9NQW2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: November 2, 2016
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.