ABCC6 ATP binding cassette subfamily C member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCC6provided by HGNC
Official Full Name: ATP binding cassette subfamily C member 6provided by HGNC
Primary source: HGNC:HGNC:57
See related: Ensembl:ENSG00000091262 MIM:603234; AllianceGenome:HGNC:57
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: ARA; PXE; MLP1; MRP6; PXE1; URG7; ABC34; GACI2; MOATE; MOAT-E; EST349056
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 16.7), kidney (RPKM 9.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.11

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (16149565..16223494, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (16154422..16229003, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (16243422..16317351, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.
Title: Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.
The 75-99 C-Terminal Peptide of URG7 Protein Promotes alpha-Synuclein Disaggregation.
Title: The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.
CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.
Title: CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Title: High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Title: The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.
Title: ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.
Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
Title: Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
Title: Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
Title: Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.
Title: Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.

Submit: New GeneRIF Correction See all GeneRIFs (111)

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
Arterial calcification, generalized, of infancy, 2 MedGen: C3276161 OMIM: 614473 GeneReviews: Generalized Arterial Calcification of Infancy	not available
Autosomal recessive inherited pseudoxanthoma elasticum MedGen: C1275116 OMIM: 264800 GeneReviews: Pseudoxanthoma Elasticum	not available
Pseudoxanthoma elasticum, forme fruste MedGen: C1867450 OMIM: 177850 GeneReviews: Pseudoxanthoma Elasticum	not available

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. 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

STS-X95715 (e-PCR)
- UniSTS:26409

D8S2279 (e-PCR)
- UniSTS:473907

G67881 (e-PCR)
- UniSTS:225592

99-4448 (e-PCR)
- UniSTS:240819

A007L01 (e-PCR)
- UniSTS:58824

RH103419 (e-PCR)
- UniSTS:97744

RH70947 (e-PCR)
- UniSTS:3042

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type glutathione S-conjugate transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled inorganic anion transmembrane transporter activity	TAS Traceable Author Statement more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ATP transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in gene expression	IDA Inferred from Direct Assay more info	PubMed
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 intracellular phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in leukotriene transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to magnesium ion	IEA Inferred from Electronic Annotation more info
involved_in response to sodium phosphate	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	TAS Traceable Author Statement more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	TAS Traceable Author Statement more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 6; URG7 protein

Names: ATP-binding cassette, sub-family C (CFTR/MRP), member 6; anthracycline resistance-associated protein; multi-specific organic anion transporter E; multidrug resistance-associated protein 6

NP_001072996.1

EC 7.6.2.3

NP_001162.5

EC 7.6.2.3

NP_001338729.1

EC 7.6.2.3

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_007558.3 RefSeqGene

Range

5124..79053

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1115

mRNA and Protein(s)

NM_001079528.4 → NP_001072996.1 URG7 protein isoform 2

See identical proteins and their annotated locations for NP_001072996.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks much of the coding region and represents a distinct 3' UTR compared to variant 1. The encoded protein (isoform 2) is much shorter and has a distinct C-terminus compared to isoform 1. The encoded protein is not a transporter, but is thought to play a role in protecting hepatocytes during chronic hepatitis B virus infection.

Source sequence(s)

AY078405, BC050733

Consensus CDS

CCDS58430.1

UniProtKB/Swiss-Prot

O95255

Related

ENSP00000461686.1, ENST00000575728.1

Conserved Domains (1) summary

TIGR00957
Location:14 → 74

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_001171.6 → NP_001162.5 ATP-binding cassette sub-family C member 6 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC136624

Consensus CDS

CCDS10568.1

UniProtKB/Swiss-Prot

A2RRN8, A8KIG6, A8Y988, E7ESW8, O95255, P78420, Q8TCY8, Q9UMZ7

UniProtKB/TrEMBL

A0A0G2JMG3

Related

ENSP00000205557.7, ENST00000205557.12

Conserved Domains (1) summary

TIGR00957
Location:14 → 1502

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_001351800.1 → NP_001338729.1 ATP-binding cassette sub-family C member 6 isoform 3

Status: REVIEWED

Source sequence(s)

AC136624, AF076622, AI074459, BC131732

UniProtKB/TrEMBL

A0A0G2JMG3

Conserved Domains (1) summary

cl26602
Location:1 → 1388

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]