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, Ju... See more...

Aliases for ACBD3 Gene

Aliases for ACBD3 Gene

  • Acyl-CoA Binding Domain Containing 3 2 3 5
  • PBR- And PKA-Associated Protein 7 2 3 4
  • GCP60 2 3 4
  • Peripheral Benzodiazepine Receptor-Associated Protein PAP7 3 4
  • Acyl-Coenzyme A Binding Domain Containing 3 2 3
  • Golgi Complex Associated Protein 1, 60kDa 2 3
  • Golgi Resident Protein GCP60 3 4
  • Golgi Phosphoprotein 1 3 4
  • GOCAP1 3 4
  • GOLPH1 3 4
  • PAP7 2 3
  • Acyl-CoA-Binding Domain-Containing Protein 3 4
  • Golgi Complex-Associated Protein 1 4
  • PKA (RIalpha)-Associated Protein 3
  • ACBD3 5

External Ids for ACBD3 Gene

Previous HGNC Symbols for ACBD3 Gene

  • GOLPH1
  • GOCAP1

Previous GeneCards Identifiers for ACBD3 Gene

  • GC01M223307
  • GC01M222639
  • GC01M224399
  • GC01M226332
  • GC01M196849

Summaries for ACBD3 Gene

Entrez Gene Summary for ACBD3 Gene

  • 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]

GeneCards Summary for ACBD3 Gene

ACBD3 (Acyl-CoA Binding Domain Containing 3) is a Protein Coding gene. Diseases associated with ACBD3 include Nonparalytic Poliomyelitis and Primary Pigmented Nodular Adrenocortical Disease. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include fatty-acyl-CoA binding. An important paralog of this gene is TMED8.

UniProtKB/Swiss-Prot Summary for ACBD3 Gene

  • Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi (PubMed:11590181). Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase (PubMed:27009356).
  • (Microbial infection) Plays an essential role in Aichi virus RNA replication by recruiting PI4KB at the viral replication sites.

Gene Wiki entry for ACBD3 Gene

Additional gene information for ACBD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACBD3 Gene

Genomics for ACBD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACBD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACBD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACBD3

Top Transcription factor binding sites by QIAGEN in the ACBD3 gene promoter:
  • Egr-4
  • Evi-1
  • GATA-1
  • MIF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-5

Genomic Locations for ACBD3 Gene

Genomic Locations for ACBD3 Gene
chr1:226,144,679-226,186,741
(GRCh38/hg38)
Size:
42,063 bases
Orientation:
Minus strand
chr1:226,332,380-226,374,431
(GRCh37/hg19)
Size:
42,052 bases
Orientation:
Minus strand

Genomic View for ACBD3 Gene

Genes around ACBD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACBD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACBD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACBD3 Gene

Proteins for ACBD3 Gene

  • Protein details for ACBD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3P7-GCP60_HUMAN
    Recommended name:
    Golgi resident protein GCP60
    Protein Accession:
    Q9H3P7
    Secondary Accessions:
    • B2RB29
    • Q5VTJ0
    • Q6P9F1
    • Q8IZC5
    • Q8N4D6
    • Q9H6U3

    Protein attributes for ACBD3 Gene

    Size:
    528 amino acids
    Molecular mass:
    60593 Da
    Quaternary structure:
    • Homodimer (PubMed:23572552). Interacts with the C-terminal cytoplasmic domain of giantin/GOLGB1 (PubMed:11590181). Interacts with PBR and PKA regulatory subunit RI-alpha. Does not interact with PKA regulatory subunit RI-beta nor PKA regulatory subunit RII-alpha (By similarity). Interacts (via Q domain) with PI4KB (via N-terminus) (PubMed:23572552, PubMed:27009356, PubMed:27989622, PubMed:22124328, PubMed:22258260). Interacts (via Q domain) with TBC1D22A AND TBC1D22B; interactions with PI4KB and with TBC1D22A and TBC1D22B are mutually exclusive (PubMed:23572552, PubMed:27009356, PubMed:27989622, PubMed:22124328). Interacts with C10ORF76 and RAB11B (PubMed:23572552).
    • (Microbial infection) Interacts (via GOLD domain) with 3A proteins from various picornaviruses, including poliovirus, enterovirus A71, enterovirus D68, hepatitis A virus, human parechovirus 1, poliovirus, Human rhinovirus-14 (Hrv-14), coysackievirus B2, coysackievirus B3, coysackievirus B5, Aichi virus and human klassevirus (PubMed:23572552, PubMed:22258260, PubMed:31381608). Interacts (via GOLD domain) with Aichi virus protein 3A; this interaction allows the formation of a 3A/ACBD3/PI4KB complex in order to synthesize PI4P at the viral RNA replication sites (PubMed:23572552, PubMed:22124328, PubMed:27989622, PubMed:30755512) (Probable). Interacts with Aichi virus protein 2B (PubMed:22124328). Interacts with Aichi virus protein 2C (PubMed:22124328).

    Three dimensional structures from OCA and Proteopedia for ACBD3 Gene

neXtProt entry for ACBD3 Gene

Post-translational modifications for ACBD3 Gene

  • Ubiquitination at Lys507
  • Modification sites at PhosphoSitePlus

Other Protein References for ACBD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACBD3 Gene

Domains & Families for ACBD3 Gene

Gene Families for ACBD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACBD3 Gene

Suggested Antigen Peptide Sequences for ACBD3 Gene

GenScript: Design optimal peptide antigens:
  • Peripheral benzodiazepine receptor-associated protein PAP7 (GCP60_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3P7

UniProtKB/Swiss-Prot:

GCP60_HUMAN :
  • The central Gln-rich region (Q domain) is involved in binding to PI4KB, TBC1D22A and TBC1D22B (PubMed:23572552). The C-terminal GOLD domain is essential for giantin binding. The GOLD domain is also involved in homodimerization (PubMed:23572552).
Domain:
  • The central Gln-rich region (Q domain) is involved in binding to PI4KB, TBC1D22A and TBC1D22B (PubMed:23572552). The C-terminal GOLD domain is essential for giantin binding. The GOLD domain is also involved in homodimerization (PubMed:23572552).
  • (Microbial infection) The GOLD domain is involved in binding to the picornaviral protein 3A.
genes like me logo Genes that share domains with ACBD3: view

Function for ACBD3 Gene

Molecular function for ACBD3 Gene

UniProtKB/Swiss-Prot Function:
Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi (PubMed:11590181). Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase (PubMed:27009356).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Plays an essential role in Aichi virus RNA replication by recruiting PI4KB at the viral replication sites.

Phenotypes From GWAS Catalog for ACBD3 Gene

Gene Ontology (GO) - Molecular Function for ACBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0005515 protein binding IPI 22124328
GO:0034237 protein kinase A regulatory subunit binding IPI 17911601
genes like me logo Genes that share ontologies with ACBD3: view
genes like me logo Genes that share phenotypes with ACBD3: view

Animal Models for ACBD3 Gene

MGI Knock Outs for ACBD3:
  • Acbd3 Acbd3<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACBD3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACBD3 Gene

Localization for ACBD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACBD3 Gene

Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side. Mitochondrion. Note=Also mitochondrial (via its interaction with PBR). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACBD3 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 4
nucleus 3
cytosol 3
plasma membrane 2
endoplasmic reticulum 2
endosome 2
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005739 mitochondrion IEA --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ACBD3: view

Pathways & Interactions for ACBD3 Gene

genes like me logo Genes that share pathways with ACBD3: view

Pathways by source for ACBD3 Gene

Gene Ontology (GO) - Biological Process for ACBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with ACBD3: view

No data available for SIGNOR curated interactions for ACBD3 Gene

Drugs & Compounds for ACBD3 Gene

(4) Drugs for ACBD3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(31) Additional Compounds for ACBD3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACBD3: view

Transcripts for ACBD3 Gene

mRNA/cDNA for ACBD3 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACBD3

Alternative Splicing Database (ASD) splice patterns (SP) for ACBD3 Gene

No ASD Table

Relevant External Links for ACBD3 Gene

GeneLoc Exon Structure for
ACBD3

Expression for ACBD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACBD3 Gene

Protein differential expression in normal tissues from HIPED for ACBD3 Gene

This gene is overexpressed in Nasal epithelium (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACBD3 Gene



Protein tissue co-expression partners for ACBD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACBD3

SOURCE GeneReport for Unigene cluster for ACBD3 Gene:

Hs.520207

mRNA Expression by UniProt/SwissProt for ACBD3 Gene:

Q9H3P7-GCP60_HUMAN
Tissue specificity: Ubiquitous, with highest expression in testis and ovary.

Evidence on tissue expression from TISSUES for ACBD3 Gene

  • Nervous system(4.5)
  • Blood(4.5)
  • Liver(4.5)
  • Kidney(2.5)
  • Adrenal gland(2.5)
  • Muscle(2.1)
  • Heart(2.1)
  • Lung(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ACBD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACBD3 Gene

Orthologs for ACBD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACBD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACBD3 30 31
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACBD3 30 31
  • 94.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACBD3 30 31
  • 90.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acbd3 30 17 31
  • 86.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acbd3 30
  • 86.22 (n)
Oppossum
(Monodelphis domestica)
Mammalia ACBD3 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACBD3 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACBD3 30 31
  • 79.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACBD3 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acbd3 30
  • 72.83 (n)
Str.11138 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:162964 30
  • 61.5 (n)
ACBD3 31
  • 56 (a)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG14232 31
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y41E3.7 31
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.413 31
  • 43 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4248 30
Species where no ortholog for ACBD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACBD3 Gene

ENSEMBL:
Gene Tree for ACBD3 (if available)
TreeFam:
Gene Tree for ACBD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACBD3: view image

Paralogs for ACBD3 Gene

Paralogs for ACBD3 Gene

genes like me logo Genes that share paralogs with ACBD3: view

Variants for ACBD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACBD3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
780305 Benign: not provided 226,186,655(-) T/A SYNONYMOUS_VARIANT
rs2306120 - p.Glu187Asp

Additional dbSNP identifiers (rs#s) for ACBD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACBD3 Gene

Variant ID Type Subtype PubMed ID
esv2591433 CNV insertion 19546169
esv3589009 CNV loss 21293372
nsv1144439 CNV deletion 24896259
nsv819122 CNV loss 19587683
nsv826897 CNV loss 20364138
nsv832747 CNV gain 17160897
nsv832759 CNV loss 17160897
nsv945331 CNV duplication 23825009

Variation tolerance for ACBD3 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACBD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACBD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACBD3 Gene

Disorders for ACBD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACBD3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nonparalytic poliomyelitis
  • acute nonparalytic poliomyelitis
primary pigmented nodular adrenocortical disease
  • pigmented nodular adrenocortical disease, primary, 2
- elite association - COSMIC cancer census association via MalaCards
Search ACBD3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACBD3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACBD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACBD3 Gene

Publications for ACBD3 Gene

  1. Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues. (PMID: 12692076) Liu J … Papadopoulos V (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003) 2 3 23
  2. ACBD3 Is an Essential Pan-enterovirus Host Factor That Mediates the Interaction between Viral 3A Protein and Cellular Protein PI4KB. (PMID: 30755512) Lyoo H … van Kuppeveld FJM (mBio 2019) 3 4
  3. The Molecular Basis of Aichi Virus 3A Protein Activation of Phosphatidylinositol 4 Kinase IIIβ, PI4KB, through ACBD3. (PMID: 27989622) McPhail JA … Burke JE (Structure (London, England : 1993) 2017) 3 4
  4. Kobuviral Non-structural 3A Proteins Act as Molecular Harnesses to Hijack the Host ACBD3 Protein. (PMID: 28065508) Klima M … Boura E (Structure (London, England : 1993) 2017) 3 4
  5. Structural insights and in vitro reconstitution of membrane targeting and activation of human PI4KB by the ACBD3 protein. (PMID: 27009356) Klima M … Boura E (Scientific reports 2016) 3 4

Products for ACBD3 Gene

Sources for ACBD3 Gene