ANKH ANKH inorganic pyrophosphate transport regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKHprovided by HGNC
Official Full Name: ANKH inorganic pyrophosphate transport regulatorprovided by HGNC
Primary source: HGNC:HGNC:15492
See related: Ensembl:ENSG00000154122 MIM:605145; AllianceGenome:HGNC:15492
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ANK; CMDJ; HANK; MANK; CCAL2; CPPDD; SLC62A1
Summary: This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 21.9), brain (RPKM 17.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (14704800..14871778, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (14644272..14811218, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (14704909..14871887, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
Title: The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3pAQP1/ANKH axis.
Title: m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3p‒AQP1/ANKH axis.
Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.
Title: Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.
Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.
Title: Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.
We used human vascular smooth muscle cells (VSMCs) and a rat model of chronic renal failure (CRF), and observed a native protective mechanism by which VC is reduced via the activation of Wnt1 and its transcriptional target ANKH inorganic pyrophosphate transport regulator (ANKH) gene
Title: Wnt1 inhibits vascular smooth muscle cell calcification by promoting ANKH expression.
ANK/ANKH protein carrying craniometaphyseal dysplasia mutations is present only at low levels due to rapid protein degradation. Decreased amounts of functional ANKH and improper subcellular localization are likely to contribute to CMD although these findings do not fully explain the pathogenic mechanisms seen in patients or the mouse model.
Title: Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.
Craniometaphyseal dysplasia mutations in ANKH diminish hiPSC differentiation into osteoclasts in vitro.
Title: Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.
our findings demonstrate that the miR-20a/ANKH axis mediates the stiff matrix- promoted CEP calcification, suggesting that miR-20a and ANKH are potential targets in restraining the progression of IDD.
Title: Matrix stiffness promotes cartilage endplate chondrocyte calcification in disc degeneration via miR-20a targeting ANKH expression.
Results show that ANK localizes to the trans-Golgi network (TGN), clathrin-coated vesicles and the plasma membrane, and is required for endosomal function and endocytosis
Title: The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
This study validates the association between a functional polymorphism in the 5' UTR of ANKH and Chondrocalcinosis
Title: The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Chondrocalcinosis 2 MedGen: C0856830 OMIM: 118600 GeneReviews: Not available	Compare labs
Craniometaphyseal dysplasia, autosomal dominant MedGen: C1852502 OMIM: 123000 GeneReviews: Craniometaphyseal Dysplasia, Autosomal Dominant	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-02-23) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2022-02-23) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15017 (e-PCR)
- UniSTS:50185

D5S1665E (e-PCR)
- UniSTS:151054

G32452 (e-PCR)
- UniSTS:117038

RH123363 (e-PCR)
- UniSTS:135739

D5S2663 (e-PCR)
- UniSTS:8769

RH104308 (e-PCR)
- UniSTS:98633

RH16357 (e-PCR)
- UniSTS:4697

A004S29 (e-PCR)
- UniSTS:76904

D10S16 (e-PCR)
- UniSTS:155756

A009D34 (e-PCR)
- UniSTS:50056

IB363 (e-PCR)
- UniSTS:59025

SHGC-35145 (e-PCR)
- UniSTS:60313

RH103894 (e-PCR)
- UniSTS:98219

WI-18203 (e-PCR)
- UniSTS:33217

RH12671 (e-PCR)
- UniSTS:45788

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables inorganic diphosphate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables inorganic diphosphate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables inorganic diphosphate transmembrane transporter activity	TAS Traceable Author Statement more info
enables phosphate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP export	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in cementum mineralization	IEA Inferred from Electronic Annotation more info
involved_in diphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in inhibition of non-skeletal tissue mineralization	IEA Inferred from Electronic Annotation more info
involved_in inorganic diphosphate transport	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	NAS Non-traceable Author Statement more info	PubMed
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of bone mineralization	TAS Traceable Author Statement more info	PubMed
involved_in response to sodium phosphate	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	NAS Non-traceable Author Statement more info	PubMed
involved_in transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in outer membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mineralization regulator ANKH

Names: ATP carrier protein ANKH; ankylosis, progressive homolog; progressive ankylosis protein homolog; solute carrier family 62, member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008273.2 RefSeqGene

Range

5008..171986

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1362

mRNA and Protein(s)

NM_054027.6 → NP_473368.1 mineralization regulator ANKH

See identical proteins and their annotated locations for NP_473368.1

Status: REVIEWED

Source sequence(s)

AC010491, BC009835, BQ008340, BU193060, DA126651

Consensus CDS

CCDS3885.1

UniProtKB/Swiss-Prot

B2RCA7, B3KMG4, D3DTD4, Q9HCJ1, Q9NQW2

UniProtKB/TrEMBL

Q53HE9

Related

ENSP00000284268.6, ENST00000284268.8

Conserved Domains (1) summary

pfam07260
Location:1 → 345

ANKH; Progressive ankylosis protein (ANKH)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

14704800..14871778 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009644.3 → XP_016865133.1 mineralization regulator ANKH isoform X1

UniProtKB/TrEMBL

Q53HE9
XM_011514067.2 → XP_011512369.1 mineralization regulator ANKH isoform X2

Conserved Domains (1) summary

pfam07260
Location:1 → 337

ANKH; Progressive ankylosis protein (ANKH)