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:: 34

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (16149565..16223494, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (16154422..16229003, complement)
105.20220307	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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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?

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 <i>ABCC6</i> 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.
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Title: Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Title: ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Increased endothelial sodium channel activity by extracellular vesicles in human aortic endothelial cells: putative role of MLP1 and bioactive lipids.
Title: Increased endothelial sodium channel activity by extracellular vesicles in human aortic endothelial cells: putative role of MLP1 and bioactive lipids.
Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology.
Title: Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology.
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Title: Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.

Submit: New GeneRIF Correction See all GeneRIFs (106)

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	Compare labs
Pseudoxanthoma elasticum MedGen: C0033847 OMIM: 264800 GeneReviews: Pseudoxanthoma Elasticum	Compare labs
Pseudoxanthoma elasticum, forme fruste MedGen: C1867450 OMIM: 177850 GeneReviews: Pseudoxanthoma Elasticum	Compare labs

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

Homology

Homologs of the ABCC6 gene: The ABCC6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 226 organisms have orthologs with human gene ABCC6
Orthologs

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 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	PubMed
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 cellular phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in inorganic diphosphate transport	IEA Inferred from Electronic Annotation more info
involved_in leukotriene transport	IDA Inferred from Direct Assay more info	PubMed
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	PubMed
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 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	PubMed
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

XP_011520781.1

EC 7.6.2.3

XP_011520782.1

EC 7.6.2.3

XP_011520783.1

EC 7.6.2.3

XP_011520784.1

EC 7.6.2.3

XP_016878701.1

EC 7.6.2.3

XP_016878703.1

EC 7.6.2.3

XP_047290025.1

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

Q9UMZ7

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

Conserved Domains (1) summary

cl26602
Location:1 → 1388

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

RNA

NR_147784.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC136624, AF076622, AI074459, AM711638

Related

ENST00000456970.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

16149565..16223494 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017023212.2 → XP_016878701.1 ATP-binding cassette sub-family C member 6 isoform X2
XM_011522479.3 → XP_011520781.1 ATP-binding cassette sub-family C member 6 isoform X1

Conserved Domains (5) summary

TIGR00957
Location:14 → 1491

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

cd03244
Location:1252 → 1472

ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

cd03250
Location:629 → 818

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

pfam16185
Location:27 → 146

MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region

cl00549
Location:940 → 1205

ABC_membrane; ABC transporter transmembrane region
XM_011522480.1 → XP_011520782.1 ATP-binding cassette sub-family C member 6 isoform X3

See identical proteins and their annotated locations for XP_011520782.1

Conserved Domains (1) summary

TIGR00957
Location:1 → 1388

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_011522481.4 → XP_011520783.1 ATP-binding cassette sub-family C member 6 isoform X3

See identical proteins and their annotated locations for XP_011520783.1

Conserved Domains (1) summary

TIGR00957
Location:1 → 1388

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_047434069.1 → XP_047290025.1 ATP-binding cassette sub-family C member 6 isoform X5
XM_017023214.2 → XP_016878703.1 ATP-binding cassette sub-family C member 6 isoform X4
XM_011522482.4 → XP_011520784.1 ATP-binding cassette sub-family C member 6 isoform X6

Conserved Domains (4) summary

cd03250
Location:629 → 829

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

COG1132
Location:296 → 845

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

pfam16185
Location:27 → 146

MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region

cl00549
Location:315 → 578

ABC_membrane; ABC transporter transmembrane region