abca4 ATP binding cassette subfamily A member 4 [Xenopus tropicalis (tropical clawed frog)] - Gene

Summary

Official Symbol: abca4provided by Xenbase
Official Full Name: ATP binding cassette subfamily A member 4provided by Xenbase
Primary source: Xenbase:XB-GENE-1000810
See related: Ensembl:ENSXETG00000008223 AllianceGenome:Xenbase:XB-GENE-1000810
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Xenopus tropicalis
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Silurana
Also known as: ffm; rmp; abcr; rp19; stgd; abc10; armd2; cord3; stgd1
Summary: Predicted to enable ABC-type transporter activity; ATP binding activity; and ATP hydrolysis activity. Predicted to act upstream of or within transmembrane transport. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in fundus dystrophy and retinal degeneration (multiple). Orthologous to human ABCA4 (ATP binding cassette subfamily A member 4). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 4

Exon count:: 52

Annotation release	Status	Assembly	Chr	Location
104	current	UCB_Xtro_10.0 (GCF_000004195.4)	4	NC_030680.2 (103655260..103778282)
103	previous assembly	Xenopus_tropicalis_v9.1 (GCF_000004195.3)	4	NC_030680.1 (93488459..93602465)

Chromosome 4 - NC_030680.2 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two new ABCA4 mutations were identified in a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Title: Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Evolutionary alterations may increase the retinoid metabolite recycling capacity of ABCA4 and may improve dark adaptation.
Title: Evolution of ABCA4 proteins in vertebrates.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by Xenbase

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: retinal-specific phospholipid-transporting ATPase ABCA4

Names: ATP-binding cassette, sub-family A (ABC1), member 4; retinal-specific ATP transporter ABCA4

NP_001011033.1

EC 7.6.2.1

XP_031755908.1

EC 7.6.2.1

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.

mRNA and Protein(s)

NM_001011033.1 → NP_001011033.1 retinal-specific phospholipid-transporting ATPase ABCA4

See identical proteins and their annotated locations for NP_001011033.1

Status: PROVISIONAL

Source sequence(s)

AY509741

UniProtKB/TrEMBL

Q5YG24

Related

ENSXETP00000079927.2, ENSXETT00000072372.2

Conserved Domains (3) summary

TIGR01257
Location:1 → 2347

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:2013 → 2233

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

cl21474
Location:604 → 778

ABC2_membrane; ABC-2 type transporter

RefSeqs of Annotated Genomes: Xenopus tropicalis Annotation Release 104 details...

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

Reference UCB_Xtro_10.0 Primary Assembly

Genomic

NC_030680.2 Reference UCB_Xtro_10.0 Primary Assembly

Range

103655260..103778282

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_031900048.1 → XP_031755908.1 retinal-specific phospholipid-transporting ATPase ABCA4 isoform X1

UniProtKB/TrEMBL

A0A6I8RDT6

Conserved Domains (1) summary

TIGR01257
Location:1 → 2347

rim_protein; retinal-specific rim ABC transporter