ACBD7 acyl-CoA binding domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACBD7provided by HGNC
Official Full Name: acyl-CoA binding domain containing 7provided by HGNC
Primary source: HGNC:HGNC:17715
See related: Ensembl:ENSG00000176244 AllianceGenome:HGNC:17715
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: bA455B2.2
Summary: Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within several processes, including energy homeostasis; leptin-mediated signaling pathway; and response to food. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 9.1), testis (RPKM 1.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10p13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (15075475..15088776, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (15089450..15102751, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (15117474..15130775, complement)

Chromosome 10 - NC_000010.11 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: 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?

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

Readthrough ACBD7-DCLRE1CP1

Readthrough gene: ACBD7-DCLRE1CP1, Included gene: DCLRE1CP1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty-acyl-CoA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: acyl-CoA-binding domain-containing protein 7

Names: acyl-Coenzyme A binding domain containing 7

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_001039844.3 → NP_001034933.1 acyl-CoA-binding domain-containing protein 7

See identical proteins and their annotated locations for NP_001034933.1

Status: VALIDATED

Source sequence(s)

AK095538, AL590365, BX114172

Consensus CDS

CCDS31153.1

UniProtKB/Swiss-Prot

A6NCI2, B3KTG8, Q8N6N7

Related

ENSP00000367453.4, ENST00000356189.6

Conserved Domains (1) summary

cl00221
Location:3 → 87

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...