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Protein

Progressive ankylosis protein homolog

Gene

ANKH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processPhosphate transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events
SIGNORiQ9HCJ1

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

EuPathDBiHostDB:ENSG00000154122.12
HGNCiHGNC:15492 ANKH
MIMi605145 gene
neXtProtiNX_Q9HCJ1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs121908409EnsemblClinVar.1
Natural variantiVAR_0226075P → T in CCAL2. 1 PublicationCorresponds to variant dbSNP:rs121908410EnsemblClinVar.1
Natural variantiVAR_01755648M → T in CCAL2. 1 PublicationCorresponds to variant dbSNP:rs121908407EnsemblClinVar.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 dbSNP:rs28939080EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi56172
GeneReviewsiANKH
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
ProteomicsDBi81736

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 Expressed in 213 organ(s), highest expression level in tibia
CleanExiHS_ANKH
ExpressionAtlasiQ9HCJ1 baseline and differential
GenevisibleiQ9HCJ1 HS

Organism-specific databases

HPAiHPA068104

Interactioni

Protein-protein interaction databases

BioGridi121103, 4 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
KOiK22734
OMAiYMGVHGA
OrthoDBiEOG091G0587
PhylomeDBiQ9HCJ1
TreeFamiTF333504

Family and domain databases

InterProiView protein in InterPro
IPR009887 ANKH
PANTHERiPTHR28384 PTHR28384, 2 hits
PfamiView protein in Pfam
PF07260 ANKH, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5E7A0A2R8Y5E7_HUMAN
Progressive ankylosis protein homol...
ANKH
140Annotation score:
D6RGI5D6RGI5_HUMAN
Progressive ankylosis protein homol...
ANKH
126Annotation score:

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 dbSNP:rs121908409EnsemblClinVar.1
Natural variantiVAR_0226075P → T in CCAL2. 1 PublicationCorresponds to variant dbSNP:rs121908410EnsemblClinVar.1
Natural variantiVAR_01755648M → T in CCAL2. 1 PublicationCorresponds to variant dbSNP:rs121908407EnsemblClinVar.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 dbSNP:rs28939080EnsemblClinVar.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

Similar proteinsi

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, 4 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
ProteomicsDBi81736

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
EuPathDBiHostDB:ENSG00000154122.12
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
KOiK22734
OMAiYMGVHGA
OrthoDBiEOG091G0587
PhylomeDBiQ9HCJ1
TreeFamiTF333504

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events
SIGNORiQ9HCJ1

Miscellaneous databases

ChiTaRSiANKH human
GeneWikiiANKH
GenomeRNAii56172
PROiPR:Q9HCJ1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154122 Expressed in 213 organ(s), highest expression level in tibia
CleanExiHS_ANKH
ExpressionAtlasiQ9HCJ1 baseline and differential
GenevisibleiQ9HCJ1 HS

Family and domain databases

InterProiView protein in InterPro
IPR009887 ANKH
PANTHERiPTHR28384 PTHR28384, 2 hits
PfamiView protein in Pfam
PF07260 ANKH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiANKH_HUMAN
AccessioniPrimary (citable) accession number: Q9HCJ1
Secondary accession number(s): B2RCA7
, B3KMG4, D3DTD4, Q9NQW2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: September 12, 2018
This is version 145 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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