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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
  • 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 Phosphoprotein 1 3 4
  • GOCAP1 3 4
  • GOLPH1 3 4
  • GCP60 3 4
  • Acyl-CoA-Binding Domain-Containing Protein 3 4
  • Golgi Complex-Associated Protein 1 4
  • PKA (RIalpha)-Associated Protein 3
  • Golgi Resident Protein GCP60 3
  • PAP7 3

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. Among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Clathrin derived vesicle budding. GO annotations related to this gene include fatty-acyl-CoA binding. An important paralog of this gene is TMED8.

UniProtKB/Swiss-Prot 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) Sensitizes PI4KB activation by Kobuviral (Aichi) 3A protein.

Gene Wiki entry for ACBD3 Gene

Additional gene information for ACBD3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACBD3 Gene

Genomics for ACBD3 Gene

Regulatory Elements for ACBD3 Gene

Enhancers for ACBD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H225650 1.7 FANTOM5 ENCODE dbSUPER 98.8 +531.8 531838 8 HDGF PKNOX1 ZFP64 SIN3A FEZF1 DMAP1 ZNF2 ZNF302 ZNF548 FOS ACBD3 ACBD3-AS1 LINC01703 ENAH RPL34P7 LBR LOC105373110 SDE2 ENSG00000272562 H3F3A
GH01H225995 1.9 FANTOM5 ENCODE dbSUPER 69.2 +186.4 186433 8 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF548 SP3 NFYC ZC3H11A MEF2D ACBD3 ACBD3-AS1 H3F3A SDE2 RPL34P7 TMEM63A GC01M225948
GH01H225424 1.7 FANTOM5 ENCODE dbSUPER 55.9 +759.8 759848 5 PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 ACBD3 ACBD3-AS1 LBR WDR26 ENAH LINC01703 SDE2 ENSG00000272562 LOC105373110 GC01M225093
GH01H225776 1.2 ENCODE 51.8 +408.5 408482 4 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN KDM1A ACBD3 ACBD3-AS1 LINC01703 LEFTY1 LEFTY3 EPHX1 SRP9
GH01H225459 2 FANTOM5 Ensembl ENCODE dbSUPER 30.9 +722.2 722208 9 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF766 ZNF143 ZNF207 SP3 ZNF592 LBR ACBD3 RPL34P7 LOC105373110 ACBD3-AS1 ENSG00000255835 PYCR2 LEFTY2 ENSG00000248322 ENAH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACBD3 on UCSC Golden Path with GeneCards custom track

Promoters for ACBD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000021081 330 2400 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for ACBD3 Gene

Chromosome:
1
Start:
226,144,679 bp from pter
End:
226,186,730 bp from pter
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:
    • 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 with PI4KB, TBC1D22A AND TBC1D22B; interactions with PI4KB and with TBC1D22A and TBC1D22B are mutually exclusive (PubMed:23572552, PubMed:27009356, PubMed:27989622). Interacts with C10ORF76 and RAB11B (PubMed:23572552).
    • (Microbial infection) Interacts with 3A proteins from various picornaviruses, including hepatitis A virus, human parechovirus 1, and human klassevirus. Kobuviral (Aichi) 3A protein binding may compete the physiological interaction with TBC1D22A, while enteroviral (poliovirus) 3A protein does not seem to interfere (PubMed:23572552). Interacts (via GOLD domain) with Kobuviral (Aichi) 3A protein (PubMed:27989622, PubMed:23572552).

    Three dimensional structures from OCA and Proteopedia for ACBD3 Gene

neXtProt entry for ACBD3 Gene

Post-translational modifications for ACBD3 Gene

  • Ubiquitination at posLast=507507
  • 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

Suggested Antigen Peptide Sequences for ACBD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H3P7

UniProtKB/Swiss-Prot:

GCP60_HUMAN :
  • The GOLD domain is essential for giantin binding.
Domain:
  • The GOLD domain is essential for giantin binding.
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) Sensitizes PI4KB activation by Kobuviral (Aichi) 3A protein.

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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACBD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 2
cytosol 2

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 IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
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

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:0006810 transport 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • 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

Unigene Clusters for ACBD3 Gene

Acyl-CoA binding domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACBD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for ACBD3 Gene

GeneLoc Exon Structure for
ACBD3
ECgene alternative splicing isoforms for
ACBD3

Expression for ACBD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ACBD3 Gene:

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(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with ACBD3: view

Primer Products

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 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia ACBD3 33 34
  • 94.26 (n)
dog
(Canis familiaris)
Mammalia ACBD3 33 34
  • 90.69 (n)
mouse
(Mus musculus)
Mammalia Acbd3 33 16 34
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Acbd3 33
  • 86.22 (n)
oppossum
(Monodelphis domestica)
Mammalia ACBD3 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACBD3 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACBD3 33 34
  • 79.52 (n)
lizard
(Anolis carolinensis)
Reptilia ACBD3 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acbd3 33
  • 72.83 (n)
Str.11138 33
zebrafish
(Danio rerio)
Actinopterygii zgc:162964 33
  • 61.5 (n)
ACBD3 34
  • 56 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG14232 34
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y41E3.7 34
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.413 34
  • 43 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4248 33
Species where no ortholog for ACBD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for ACBD3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000004133 -- 226,176,250(+) GTGAA(A/G)CCCTG intron-variant
rs1000095051 -- 226,156,343(+) TCACA(A/G)GTAAT intron-variant
rs1000098866 -- 226,175,959(+) GAACC(C/T)GTGAA intron-variant
rs1000177280 -- 226,162,795(+) CATGA(C/T)CTATT intron-variant
rs1000192656 -- 226,159,518(+) AAAGA(A/C/T)TTAAG intron-variant

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)

Relevant External Links for ACBD3 Gene

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

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

Disorders for ACBD3 Gene

Relevant External Links for ACBD3

Genetic Association Database (GAD)
ACBD3
Human Genome Epidemiology (HuGE) Navigator
ACBD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACBD3

No disorders were found for ACBD3 Gene.

No data available for MalaCards , 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 22 60
  2. 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 60
  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) 2016) 3 4 60
  4. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger AL … DeRisi JL (mBio 2013) 3 4 60
  5. Specificity and spatial dynamics of protein kinase A signaling organized by A-kinase-anchoring proteins. (PMID: 20150326) Pidoux G … Taskén K (Journal of molecular endocrinology 2010) 2 3 60

Products for ACBD3 Gene

Sources for ACBD3 Gene

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