ACBD3 (acyl-CoA binding domain containing 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 64746 |
| Gene name | Acyl-CoA binding domain containing 3 |
| Gene symbol | ACBD3 |
| Synonyms (NCBI Gene) |
GCP60GOCAP1GOLPH1PAP7
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
450
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous, with highest expression in testis and ovary. {ECO:0000269|PubMed:11590181}. | |||||||||||||||
| Sequence |
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| Sequence length | 528 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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