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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
  • 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. 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. Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity).

Gene Wiki entry for ACBD3 Gene

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

Genomics for ACBD3 Gene

Regulatory Elements for ACBD3 Gene

Promoters for ACBD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACBD3 on UCSC Golden Path with GeneCards custom track

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. 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).

neXtProt entry for ACBD3 Gene

Proteomics data for ACBD3 Gene at MOPED

Post-translational modifications for ACBD3 Gene

  • Ubiquitination at Lys 507
  • Modification sites at PhosphoSitePlus

Other Protein References for ACBD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ACBD3 Gene

Domains & Families for ACBD3 Gene

Gene Families for ACBD3 Gene

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.
  • Contains 1 ACB (acyl-CoA-binding) domain.
  • Contains 1 GOLD domain.
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. Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity).

Gene Ontology (GO) - Molecular Function for ACBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22124328
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

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
Jensen Localization Image for ACBD3 Gene COMPARTMENTS Subcellular localization image for ACBD3 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 4
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ACBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0016020 membrane IDA 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

1 PharmGKB pathway for ACBD3 Gene

Gene Ontology (GO) - Biological Process for ACBD3 Gene

None

No data available for SIGNOR curated interactions for ACBD3 Gene

Drugs & Compounds for ACBD3 Gene

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

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

(33) 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:

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 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, MOPED, and MaxQB for ACBD3 Gene



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.
genes like me logo Genes that share expression patterns with ACBD3: view

Protein tissue co-expression partners for ACBD3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ACBD3 35
  • 94.26 (n)
  • 96.97 (a)
ACBD3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACBD3 35
  • 90.69 (n)
  • 96.08 (a)
ACBD3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acbd3 35
  • 86.67 (n)
  • 88.19 (a)
Acbd3 16
Acbd3 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACBD3 35
  • 99.56 (n)
  • 99.81 (a)
ACBD3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acbd3 35
  • 86.22 (n)
  • 87.62 (a)
oppossum
(Monodelphis domestica)
Mammalia ACBD3 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACBD3 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACBD3 35
  • 79.52 (n)
  • 84.11 (a)
ACBD3 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACBD3 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acbd3 35
  • 72.83 (n)
  • 81.89 (a)
Str.11138 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
zgc:162964 35
  • 61.5 (n)
  • 62.41 (a)
ACBD3 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14232 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y41E3.7 36
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4248 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.413 36
  • 43 (a)
OneToOne
Species with no ortholog for ACBD3:
  • 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
rs2306120 - 226,164,797(+) TTTTT(G/T)TCTTG reference, missense
rs1062716 -- 226,146,583(-) AGTCT(A/T)GGGTT utr-variant-3-prime
rs1043641 -- 226,145,292(-) TAACT(A/G)CAGTA utr-variant-3-prime
rs1238116 -- 226,164,059(+) aggca(A/G)aggat intron-variant
rs1219663 -- 226,162,666(+) TCAGA(C/T)AAGAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832747 CNV Gain 17160897
nsv873232 CNV Gain 21882294
nsv832759 CNV Loss 17160897
nsv819122 CNV Loss 19587683
nsv826897 CNV Loss 20364138
esv2591433 CNV Insertion 19546169

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

HapMap Linkage Disequilibrium report
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 J. 2003) 2 3 23 67
  2. Specificity and spatial dynamics of protein kinase A signaling organized by A-kinase-anchoring proteins. (PMID: 20150326) Pidoux G. … TaskAcn K. (J. Mol. Endocrinol. 2010) 2 3
  3. Molecular cloning, genomic organization, chromosomal mapping and subcellular localization of mouse PAP7: a PBR and PKA-RIalpha associated protein. (PMID: 12711385) Liu J. … Papadopoulos V. (Gene 2003) 3 23
  4. Identification, localization, and function in steroidogenesis of PAP7: a peripheral-type benzodiazepine receptor- and PKA (RIalpha)-associated protein. (PMID: 11731621) Li H. … Papadopoulos V. (Mol. Endocrinol. 2001) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for ACBD3 Gene

Sources for ACBD3 Gene

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