Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HAP1 (huntingtin associated protein 1)

Identity

Alias_namesHAP2
huntingtin-associated protein 1
Alias_symbol (synonym)HLP
hHLP1
HIP5
Other alias
HGNC (Hugo) HAP1
LocusID (NCBI) 9001
Atlas_Id 50706
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 41722639 and ends at 41734646 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HAP1 (17q21.2) / GAST (17q21.2)KANSL1 (17q21.31) / HAP1 (17q21.2)LIG3 (17q12) / HAP1 (17q21.2)
HAP1 17q21.2 / GAST 17q21.2LIG3 17q12 / HAP1 17q21.2

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

 


External links

Nomenclature
HGNC (Hugo)HAP1   4812
Cards
Entrez_Gene (NCBI)HAP1  9001  huntingtin associated protein 1
AliasesHAP2; HIP5; HLP; hHLP1
GeneCards (Weizmann)HAP1
Ensembl hg19 (Hinxton)ENSG00000173805 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173805 [Gene_View]  chr17:41722639-41734646 [Contig_View]  HAP1 [Vega]
ICGC DataPortalENSG00000173805
TCGA cBioPortalHAP1
AceView (NCBI)HAP1
Genatlas (Paris)HAP1
WikiGenes9001
SOURCE (Princeton)HAP1
Genetics Home Reference (NIH)HAP1
Genomic and cartography
GoldenPath hg38 (UCSC)HAP1  -     chr17:41722639-41734646 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HAP1  -     17q21.2   [Description]    (hg19-Feb_2009)
EnsemblHAP1 - 17q21.2 [CytoView hg19]  HAP1 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIHAP1 [Mapview hg19]  HAP1 [Mapview hg38]
OMIM600947   
Gene and transcription
Genbank (Entrez)AB209105 AF040723 AK022007 BC156728 CB128405
RefSeq transcript (Entrez)NM_001079870 NM_001079871 NM_003949 NM_177977
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HAP1
Cluster EST : UnigeneHs.158300 [ NCBI ]
CGAP (NCI)Hs.158300
Alternative Splicing GalleryENSG00000173805
Gene ExpressionHAP1 [ NCBI-GEO ]   HAP1 [ EBI - ARRAY_EXPRESS ]   HAP1 [ SEEK ]   HAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)HAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9001
GTEX Portal (Tissue expression)HAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54257   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54257  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54257
Splice isoforms : SwissVarP54257
PhosPhoSitePlusP54257
Domains : Interpro (EBI)HAP1_N   
Domain families : Pfam (Sanger)HAP1_N (PF04849)   
Domain families : Pfam (NCBI)pfam04849   
Conserved Domain (NCBI)HAP1
DMDM Disease mutations9001
Blocks (Seattle)HAP1
SuperfamilyP54257
Human Protein AtlasENSG00000173805
Peptide AtlasP54257
HPRD02972
IPIIPI00302434   IPI00302435   IPI00793761   IPI00955471   IPI00793044   IPI00792437   IPI00791753   
Protein Interaction databases
DIP (DOE-UCLA)P54257
IntAct (EBI)P54257
FunCoupENSG00000173805
BioGRIDHAP1
STRING (EMBL)HAP1
ZODIACHAP1
Ontologies - Pathways
QuickGOP54257
Ontology : AmiGOprotein binding  nucleolus  mitochondrion  lysosome  autophagosome  endoplasmic reticulum  centrosome  centriole  cytosol  cytoskeleton  exocytosis  autophagy  chemical synaptic transmission  brain development  synaptic vesicle  anterograde axonal transport  retrograde axonal transport  protein localization  protein transport  actin cytoskeleton  inclusion body  regulation of exocytosis  cerebellum development  hypothalamus cell differentiation  cell projection organization  cell junction  positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  positive regulation of synaptic transmission, GABAergic  positive regulation of neurotrophin production  ion channel binding  positive regulation of epidermal growth factor receptor signaling pathway  vesicle transport along microtubule  neurotrophin TRK receptor signaling pathway  brain-derived neurotrophic factor binding  positive regulation of neurogenesis  negative regulation of beta-amyloid formation  regulation of organelle transport along microtubule  positive regulation of non-motile cilium assembly  axon cytoplasm  negative regulation of cytoplasmic translation  
Ontology : EGO-EBIprotein binding  nucleolus  mitochondrion  lysosome  autophagosome  endoplasmic reticulum  centrosome  centriole  cytosol  cytoskeleton  exocytosis  autophagy  chemical synaptic transmission  brain development  synaptic vesicle  anterograde axonal transport  retrograde axonal transport  protein localization  protein transport  actin cytoskeleton  inclusion body  regulation of exocytosis  cerebellum development  hypothalamus cell differentiation  cell projection organization  cell junction  positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  positive regulation of synaptic transmission, GABAergic  positive regulation of neurotrophin production  ion channel binding  positive regulation of epidermal growth factor receptor signaling pathway  vesicle transport along microtubule  neurotrophin TRK receptor signaling pathway  brain-derived neurotrophic factor binding  positive regulation of neurogenesis  negative regulation of beta-amyloid formation  regulation of organelle transport along microtubule  positive regulation of non-motile cilium assembly  axon cytoplasm  negative regulation of cytoplasmic translation  
Pathways : KEGGGABAergic synapse    Huntington's disease   
NDEx NetworkHAP1
Atlas of Cancer Signalling NetworkHAP1
Wikipedia pathwaysHAP1
Orthology - Evolution
OrthoDB9001
GeneTree (enSembl)ENSG00000173805
Phylogenetic Trees/Animal Genes : TreeFamHAP1
HOVERGENP54257
HOGENOMP54257
Homologs : HomoloGeneHAP1
Homology/Alignments : Family Browser (UCSC)HAP1
Gene fusions - Rearrangements
Fusion : MitelmanHAP1/GAST [17q21.2/17q21.2]  
Fusion : MitelmanLIG3/HAP1 [17q12/17q21.2]  [t(17;17)(q12;q21)]  
Fusion: TCGAHAP1 17q21.2 GAST 17q21.2 BRCA
Fusion: TCGALIG3 17q12 HAP1 17q21.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAP1
dbVarHAP1
ClinVarHAP1
1000_GenomesHAP1 
Exome Variant ServerHAP1
ExAC (Exome Aggregation Consortium)HAP1 (select the gene name)
Genetic variants : HAPMAP9001
Genomic Variants (DGV)HAP1 [DGVbeta]
DECIPHERHAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHAP1 
Mutations
ICGC Data PortalHAP1 
TCGA Data PortalHAP1 
Broad Tumor PortalHAP1
OASIS PortalHAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HAP1
DgiDB (Drug Gene Interaction Database)HAP1
DoCM (Curated mutations)HAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAP1 (select a term)
intoGenHAP1
Cancer3DHAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600947   
Orphanet
MedgenHAP1
Genetic Testing Registry HAP1
NextProtP54257 [Medical]
TSGene9001
GENETestsHAP1
Target ValidationHAP1
Huge Navigator HAP1 [HugePedia]
snp3D : Map Gene to Disease9001
BioCentury BCIQHAP1
ClinGenHAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9001
Chemical/Pharm GKB GenePA29188
Clinical trialHAP1
Miscellaneous
canSAR (ICR)HAP1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAP1
EVEXHAP1
GoPubMedHAP1
iHOPHAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:02:43 CEST 2017

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