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Entry version 156 (12 Aug 2020)
Sequence version 2 (16 Nov 2001)
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Protein

Progressive ankylosis protein homolog

Gene

ANKH

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processPhosphate transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9HCJ1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5223345, Miscellaneous transport and binding events

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9HCJ1

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.66.9.1, the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Progressive ankylosis protein homolog
Short name:
ANK
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ANKH
Synonyms:KIAA1581
ORF Names:UNQ241/PRO274
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000154122.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15492, ANKH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605145, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HCJ1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 85CytoplasmicSequence analysisAdd BLAST85
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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

DisGeNET

More...
DisGeNETi
56172

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ANKH

MalaCards human disease database

More...
MalaCardsi
ANKH
MIMi118600, phenotype
123000, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000154122

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1522, Craniometaphyseal dysplasia
1416, Familial calcium pyrophosphate deposition

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24801

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HCJ1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ANKH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17366849

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001374671 – 492Progressive ankylosis protein homologAdd BLAST492

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9HCJ1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HCJ1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9HCJ1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9HCJ1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9HCJ1

PeptideAtlas

More...
PeptideAtlasi
Q9HCJ1

PRoteomics IDEntifications database

More...
PRIDEi
Q9HCJ1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
3485
81736 [Q9HCJ1-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HCJ1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9HCJ1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000154122, Expressed in tibia and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HCJ1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HCJ1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000154122, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
121103, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q9HCJ1, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000284268

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HCJ1, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ANKH family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QWCU, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012189

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_044298_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HCJ1

KEGG Orthology (KO)

More...
KOi
K22734

Identification of Orthologs from Complete Genome Data

More...
OMAi
SAPMNEV

Database of Orthologous Groups

More...
OrthoDBi
484099at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HCJ1

TreeFam database of animal gene trees

More...
TreeFami
TF333504

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009887, ANKH

The PANTHER Classification System

More...
PANTHERi
PTHR28384, PTHR28384, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07260, ANKH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:294
Mass (Da):32,259
Checksum:iED76E746015E449A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RGI5D6RGI5_HUMAN
Progressive ankylosis protein homol...
ANKH
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0558241 – 198Missing in isoform 2. 1 PublicationAdd BLAST198

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3885.1 [Q9HCJ1-1]

NCBI Reference Sequences

More...
RefSeqi
NP_473368.1, NM_054027.4 [Q9HCJ1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000284268; ENSP00000284268; ENSG00000154122 [Q9HCJ1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56172

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56172

UCSC genome browser

More...
UCSCi
uc003jfm.5, human [Q9HCJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

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
jPOSTiQ9HCJ1
MassIVEiQ9HCJ1
MaxQBiQ9HCJ1
PaxDbiQ9HCJ1
PeptideAtlasiQ9HCJ1
PRIDEiQ9HCJ1
ProteomicsDBi3485
81736 [Q9HCJ1-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
43269, 114 antibodies

The DNASU plasmid repository

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DNASUi
56172

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
56172
DisGeNETi56172
EuPathDBiHostDB:ENSG00000154122.12

GeneCards: human genes, protein and diseases

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GeneCardsi
ANKH
GeneReviewsiANKH
HGNCiHGNC:15492, ANKH
HPAiENSG00000154122, Low tissue specificity
MalaCardsiANKH
MIMi118600, phenotype
123000, phenotype
605145, gene
neXtProtiNX_Q9HCJ1
OpenTargetsiENSG00000154122
Orphaneti1522, Craniometaphyseal dysplasia
1416, Familial calcium pyrophosphate deposition
PharmGKBiPA24801

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QWCU, Eukaryota
GeneTreeiENSGT00390000012189
HOGENOMiCLU_044298_0_0_1
InParanoidiQ9HCJ1
KOiK22734
OMAiSAPMNEV
OrthoDBi484099at2759
PhylomeDBiQ9HCJ1
TreeFamiTF333504

Enzyme and pathway databases

PathwayCommonsiQ9HCJ1
ReactomeiR-HSA-5223345, Miscellaneous transport and binding events
SIGNORiQ9HCJ1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
56172, 11 hits in 875 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ANKH, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ANKH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
56172
PharosiQ9HCJ1, Tbio

Protein Ontology

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PROi
PR:Q9HCJ1
RNActiQ9HCJ1, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000154122, Expressed in tibia and 228 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiANKH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HCJ1
Secondary accession number(s): B2RCA7
, B3KMG4, D3DTD4, Q9NQW2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: August 12, 2020
This is version 156 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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