abca12 ATP-binding cassette, sub-family A (ABC1), member 12 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: abca12provided by ZNC
Official Full Name: ATP-binding cassette, sub-family A (ABC1), member 12provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-9790
See related: AllianceGenome:ZFIN:ZDB-GENE-030131-9790
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb352; sb:cb352; si:dkey-95p16.1
Summary: Predicted to enable ABC-type transporter activity; ATP binding activity; and ATP hydrolysis activity. Acts upstream of or within epidermis morphogenesis. Predicted to be located in membrane. Is expressed in EVL; ectoderm; integument; peripheral olfactory organ; and pharynx. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1; autosomal recessive congenital ichthyosis 4A; and autosomal recessive congenital ichthyosis 4B. Orthologous to human ABCA12 (ATP binding cassette subfamily A member 12). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 9

Exon count:: 76

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (40685613..40846467, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (40883825..41044696, complement)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The morphological findings are akin to epidermal changes in harlequin ichthyosis and CEDNIK syndrome, autosomal recessive keratinization disorders due to mutations in the ABCA12 and SNAP29 genes, respectively.
Title: Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.

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General gene information

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Markers

fa01f10.s1 (e-PCR)
- UniSTS:189489

fj28h08.y1 (e-PCR)
- UniSTS:198968

fd04d01.y1 (e-PCR)
- UniSTS:194914

Z9479 (e-PCR)
- UniSTS:52841

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by ZFIN

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
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within epidermis morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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: ATP-binding cassette sub-family A member 12; uncharacterized protein abca12

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007120.7 Reference GRCz11 Primary Assembly

Range

40685613..40846467 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_681540.9 → XP_686632.6 uncharacterized protein abca12

UniProtKB/TrEMBL

A0A8N7T793

Conserved Domains (3) summary

cd03263
Location:5573 → 5799

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

COG1131
Location:4666 → 4941

CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]

pfam12698
Location:4268 → 4588

ABC2_membrane_3; ABC-2 family transporter protein