ACBD3 acyl-CoA binding domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACBD3provided by HGNC
Official Full Name: acyl-CoA binding domain containing 3provided by HGNC
Primary source: HGNC:HGNC:15453
See related: Ensembl:ENSG00000182827 MIM:606809; AllianceGenome:HGNC:15453
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: PAP7; GCP60; GOCAP1; GOLPH1
Summary: The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 19.9), esophagus (RPKM 18.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (226144679..226186741, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (225332550..225374626, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (226332380..226374442, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Recruitment of PI4KIIIbeta to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins.
Title: Recruitment of PI4KIIIβ to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins.
Identification of ACBD3 as a new molecular biomarker in pan-cancers through bioinformatic analysis: a preclinical study.
Title: Identification of ACBD3 as a new molecular biomarker in pan-cancers through bioinformatic analysis: a preclinical study.
An A-kinase anchoring protein (ACBD3) coordinates traffic-induced PKA activation at the Golgi.
Title: An A-kinase anchoring protein (ACBD3) coordinates traffic-induced PKA activation at the Golgi.
The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi.
Title: The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi.
ACBD3 Bioinformatic Analysis and Protein Expression in Breast Cancer Cells.
Title: ACBD3 Bioinformatic Analysis and Protein Expression in Breast Cancer Cells.
ACBD3 is up-regulated in gastric cancer and promotes cell cycle G1-to-S transition in an AKT-dependent manner.
Title: ACBD3 is up-regulated in gastric cancer and promotes cell cycle G1-to-S transition in an AKT-dependent manner.
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells.
Title: Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells.
In vitro reconstitution revealed that the membrane is necessary for the formation of ACBD3:PI4KB:Rab11 protein complex at physiological (nanomolar) concentrations.
Title: Phosphatidylinositol 4-kinase IIIβ (PI4KB) forms highly flexible heterocomplexes that include ACBD3, 14-3-3, and Rab11 proteins.
The picornaviruses use their small nonstructural protein 3A that binds the Golgi dynamics domain of the ACBD3 protein.
Title: Structural insights into Acyl-coenzyme A binding domain containing 3 (ACBD3) protein hijacking by picornaviruses.
This review aims to give a timely overview of recent findings on Acyl-CoA-binding domain-containing 3 protein, including its emerging role in membrane domain organization at the Golgi and the mitochondria. [review]
Title: Acyl-CoA-Binding Domain-Containing 3 (ACBD3; PAP7; GCP60): A Multi-Functional Membrane Domain Organizer.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with acyl-CoA binding domain containing 3 (ACBD3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of acyl-CoA binding domain containing 3 (ACBD3) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-132660 (e-PCR)
- UniSTS:185378

RH80265 (e-PCR)
- UniSTS:86325

RH125959 (e-PCR)
- UniSTS:162671

RH80922 (e-PCR)
- UniSTS:90240

D1S3722 (e-PCR)
- UniSTS:77721

C76375 (e-PCR)
- UniSTS:207261

RH69697 (e-PCR)
- UniSTS:1958

AI234525 (e-PCR)
- UniSTS:250338

SHGC-37008 (e-PCR)
- UniSTS:78567

BCD1405 (e-PCR)
- UniSTS:51434

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty-acyl-CoA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A regulatory subunit binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in steroid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Golgi resident protein GCP60

Names: PBR- and PKA-associated protein 7; PKA (RIalpha)-associated protein; acyl-Coenzyme A binding domain containing 3; golgi complex associated protein 1, 60kDa; golgi phosphoprotein 1; peripheral benzodiazepine receptor-associated protein PAP7

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.