Gene

abcc6a

ID

ZDB-GENE-050517-18

Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 6a

Symbol

abcc6a Nomenclature History

Previous Names

grate (1)

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Predicted to have ATPase-coupled transmembrane transporter activity. Involved in chordate embryonic development and regulation of bone mineralization. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in arterial calcification of infancy; coronary artery disease; and pseudoxanthoma elasticum. Is expressed in Kupffer's vesicle; forerunner cell group; opercular flap; and tail bud. Orthologous to human ABCC6 (ATP binding cassette subfamily C member 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 19 figures from 9 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With abcc6a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
arterial calcification of infancy	Alliance	Arterial calcification, generalized, of infancy, 2	614473
pseudoxanthoma elasticum	Alliance	Pseudoxanthoma elasticum	264800
pseudoxanthoma elasticum	Alliance	Pseudoxanthoma elasticum, forme fruste	177850

Associated With abcc6a Via Experimental Models

Human Disease	Fish	Conditions	Citations
pseudoxanthoma elasticum	abcc6a^{hu4958/hu4958}	standard conditions	Mackay et al., 2015
pseudoxanthoma elasticum	abcc6a^elu15/elu15	standard conditions	Czimer et al., 2021
pseudoxanthoma elasticum	abcc6a^cmg52/cmg52 (AB)	standard conditions	Van Gils et al., 2022
arterial calcification of infancy	abcc6a^{hu4958/hu4958}	standard conditions	Mackay et al., 2015

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017871	ABC transporter-like, conserved site
Domain	IPR003439	ABC transporter-like, ATP-binding domain
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR011527	ABC transporter type 1, transmembrane domain
Family	IPR005292	Multi drug resistance-associated protein
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036640	ABC transporter type 1, transmembrane domain superfamily

Domain Details Per Protein

Protein	Length	AAA+ ATPase domain	ABC transporter-like, ATP-binding domain	ABC transporter-like, conserved site	ABC transporter type 1, transmembrane domain	ABC transporter type 1, transmembrane domain superfamily	Multi drug resistance-associated protein	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:E7F118 InterPro	1507

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	abcc6a-201 (1) Ensembl	Ensembl		6,409 nt	Select Tool
mRNA	abcc6a-202 (1) Ensembl	Ensembl		4,422 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations