Gene Gene information from NCBI Gene database.
Entrez ID 64746
Gene name Acyl-CoA binding domain containing 3
Gene symbol ACBD3
Synonyms (NCBI Gene)
GCP60GOCAP1GOLPH1PAP7
Chromosome 1
Chromosome location 1q42.12
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 integr
miRNA miRNA information provided by mirtarbase database.
450
miRTarBase ID miRNA Experiments Reference
MIRT018287 hsa-miR-335-5p Microarray 18185580
MIRT029685 hsa-miR-26b-5p Microarray 19088304
MIRT037332 hsa-miR-877-5p CLASH 23622248
MIRT488453 hsa-miR-1273d PAR-CLIP 23592263
MIRT185617 hsa-miR-4418 PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TBC1D22A Unknown 23572552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000062 Function Fatty-acyl-CoA binding IEA
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 27009356
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606809 15453 ENSG00000182827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3P7
Protein name Golgi resident protein GCP60 (Acyl-CoA-binding domain-containing protein 3) (Golgi complex-associated protein 1) (GOCAP1) (Golgi phosphoprotein 1) (GOLPH1) (PBR- and PKA-associated protein 7) (Peripheral benzodiazepine receptor-associated protein PAP7) [C
Protein 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 (B
PDB 2N72 , 2N73 , 5LZ1 , 5LZ3 , 5LZ6 , 5TDQ , 6HLN , 6HLT , 6HLV , 6HLW , 6HM8 , 6HMV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00887 ACBP 84 170 Acyl CoA binding protein Domain
PF13897 GOLD_2 397 527 Golgi-dynamics membrane-trafficking Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with highest expression in testis and ovary. {ECO:0000269|PubMed:11590181}.
Sequence
MAAVLNAERLEVSVDGLTLSPDPEERPGAEGAPLLPPPLPPPSPPGSGRGPGASGEQPEP
GEAAAGGAAEEARRLEQRWGFGLEELYGLALRFFKEKDGKAFHPTYEEKLKLVALHKQVL
MGPYNPDTCPEVGFFDVLGNDRRREWAALGNMSKEDAMVEFVKLLNRCCH
LFSTYVASHK
IEKEEQEKKRKEEEERRRREEEERERLQKEEEKRRREEEERLRREEEERRRIEEERLRLE
QQKQQIMAALNSQTAVQFQQYAAQQYPGNYEQQQILIRQLQEQHYQQYMQQLYQVQLAQQ
QAALQKQQEVVVAGSSLPTSSKVNATVPSNMMSVNGQAKTHTDSSEKELEPEAAEEALEN
GPKESLPVIAAPSMWTRPQIKDFKEKIQQDADSVITVGRGEVVTVRVPTHEEGSYLFWEF
ATDNYDIGFGVYFEWTDSPNTAVSVHVSESSDDDEEEEENIGCEEKAKKNANKPLLDEIV
PVYRRDCHEEVYAGSHQYPGRGVYLLKFDNSYSLWRSKSVYYRVYYT
R
Sequence length 528
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Salmonella infection   Golgi Associated Vesicle Biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 38098097 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy of testis Testicular atrophy BEFREE 29870995
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29307786
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36012147 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 38098097 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 36012147 Associate
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 24012756, 29870995, 31022988
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29307786
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 37227248 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 38098097 Associate
★☆☆☆☆
Found in Text Mining only