Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACBD3 (acyl-CoA binding domain containing 3)

Identity

Alias (NCBI)GCP60
GOCAP1
GOLPH1
PAP7
HGNC (Hugo) ACBD3
HGNC Alias symbGCP60
PAP7
HGNC Alias namePBR- and PKA-associated protein 7
HGNC Previous nameGOLPH1
 GOCAP1
HGNC Previous namegolgi complex associated protein 1, 60kDa
 acyl-Coenzyme A binding domain containing 3
LocusID (NCBI) 64746
Atlas_Id 49848
Location 1q42.12  [Link to chromosome band 1q42]
Location_base_pair Starts at 226144679 and ends at 226186741 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACBD3 (1q42.12) / BOLA2 (16p11.2)ESRRG (1q41) / ACBD3 (1q42.12)MAVS (20p13) / ACBD3 (1q42.12)
ESRRG 1q41 / ACBD3 1q42.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(1)(q42) ESRRG/ACBD3


External links

Nomenclature
HGNC (Hugo)ACBD3   15453
Cards
Entrez_Gene (NCBI)ACBD3    acyl-CoA binding domain containing 3
AliasesGCP60; GOCAP1; GOLPH1; PAP7
GeneCards (Weizmann)ACBD3
Ensembl hg19 (Hinxton)ENSG00000182827 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182827 [Gene_View]  ENSG00000182827 [Sequence]  chr1:226144679-226186741 [Contig_View]  ACBD3 [Vega]
ICGC DataPortalENSG00000182827
TCGA cBioPortalACBD3
AceView (NCBI)ACBD3
Genatlas (Paris)ACBD3
SOURCE (Princeton)ACBD3
Genetics Home Reference (NIH)ACBD3
Genomic and cartography
GoldenPath hg38 (UCSC)ACBD3  -     chr1:226144679-226186741 -  1q42.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACBD3  -     1q42.12   [Description]    (hg19-Feb_2009)
GoldenPathACBD3 - 1q42.12 [CytoView hg19]  ACBD3 - 1q42.12 [CytoView hg38]
ImmunoBaseENSG00000182827
genome Data Viewer NCBIACBD3 [Mapview hg19]  
OMIM606809   
Gene and transcription
Genbank (Entrez)AB043587 AF020762 AK025520 AK057118 AK314468
RefSeq transcript (Entrez)NM_022735
Consensus coding sequences : CCDS (NCBI)ACBD3
Alternative Splicing GalleryENSG00000182827
Gene ExpressionACBD3 [ NCBI-GEO ]   ACBD3 [ EBI - ARRAY_EXPRESS ]   ACBD3 [ SEEK ]   ACBD3 [ MEM ]
Gene Expression Viewer (FireBrowse)ACBD3 [ Firebrowse - Broad ]
GenevisibleExpression of ACBD3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64746
GTEX Portal (Tissue expression)ACBD3
Human Protein AtlasENSG00000182827-ACBD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3P7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3P7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3P7
PhosPhoSitePlusQ9H3P7
Domaine pattern : Prosite (Expaxy)ACB_1 (PS00880)    ACB_2 (PS51228)    GOLD (PS50866)   
Domains : Interpro (EBI)Acyl-CoA-binding_prot_CS    Acyl-CoA-binding_protein    Acyl-CoA-binding_sf    FERM/acyl-CoA-bd_prot_sf    GOLD_dom    GOLD_dom_sf   
Domain families : Pfam (Sanger)ACBP (PF00887)    GOLD_2 (PF13897)   
Domain families : Pfam (NCBI)pfam00887    pfam13897   
Conserved Domain (NCBI)ACBD3
PDB (RSDB)2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
PDB Europe2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
PDB (PDBSum)2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
PDB (IMB)2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
Structural Biology KnowledgeBase2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
SCOP (Structural Classification of Proteins)2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
CATH (Classification of proteins structures)2N72    2N73    5LZ1    5LZ3    5LZ6    5TDQ    6HLN    6HLT    6HLV    6HLW    6HM8    6HMV   
SuperfamilyQ9H3P7
AlphaFold pdb e-kbQ9H3P7   
Human Protein Atlas [tissue]ENSG00000182827-ACBD3 [tissue]
HPRD08432
Protein Interaction databases
DIP (DOE-UCLA)Q9H3P7
IntAct (EBI)Q9H3P7
BioGRIDACBD3
STRING (EMBL)ACBD3
ZODIACACBD3
Ontologies - Pathways
QuickGOQ9H3P7
Ontology : AmiGOfatty-acyl-CoA binding  Golgi membrane  Golgi membrane  Golgi membrane  protein binding  mitochondrion  Golgi apparatus  steroid biosynthetic process  post-Golgi vesicle-mediated transport  membrane  protein kinase A regulatory subunit binding  
Ontology : EGO-EBIfatty-acyl-CoA binding  Golgi membrane  Golgi membrane  Golgi membrane  protein binding  mitochondrion  Golgi apparatus  steroid biosynthetic process  post-Golgi vesicle-mediated transport  membrane  protein kinase A regulatory subunit binding  
NDEx NetworkACBD3
Atlas of Cancer Signalling NetworkACBD3
Wikipedia pathwaysACBD3
Orthology - Evolution
OrthoDB64746
GeneTree (enSembl)ENSG00000182827
Phylogenetic Trees/Animal Genes : TreeFamACBD3
Homologs : HomoloGeneACBD3
Homology/Alignments : Family Browser (UCSC)ACBD3
Gene fusions - Rearrangements
Fusion : MitelmanESRRG/ACBD3 [1q41/1q42.12]  
Fusion PortalESRRG 1q41 ACBD3 1q42.12 BRCA
Fusion : QuiverACBD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACBD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACBD3
dbVarACBD3
ClinVarACBD3
MonarchACBD3
1000_GenomesACBD3 
Exome Variant ServerACBD3
GNOMAD BrowserENSG00000182827
Varsome BrowserACBD3
Genomic Variants (DGV)ACBD3 [DGVbeta]
DECIPHERACBD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACBD3 
Mutations
ICGC Data PortalACBD3 
TCGA Data PortalACBD3 
Broad Tumor PortalACBD3
OASIS PortalACBD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACBD3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACBD3
Mutations and Diseases : HGMDACBD3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutasearch ACBD3
DgiDB (Drug Gene Interaction Database)ACBD3
DoCM (Curated mutations)ACBD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACBD3 (select a term)
Cancer3DACBD3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606809   
Orphanet
DisGeNETACBD3
MedgenACBD3
Genetic Testing Registry ACBD3
NextProtQ9H3P7 [Medical]
GENETestsACBD3
Target ValidationACBD3
Huge Navigator ACBD3 [HugePedia]
ClinGenACBD3
Clinical trials, drugs, therapy
MyCancerGenomeACBD3
Protein Interactions : CTDACBD3
Pharm GKB GenePA28803
Pharm GKB PathwaysPA165111376   
PharosQ9H3P7
Clinical trialACBD3
Miscellaneous
canSAR (ICR)ACBD3
HarmonizomeACBD3
DataMed IndexACBD3
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACBD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Sep 15 22:02:10 CEST 2021

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