Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HLA-H (major histocompatibility complex, class I, H (pseudogene))

Identity

Other aliasHLAHP
HGNC (Hugo) HLA-H
LocusID (NCBI) 3136
Atlas_Id 64334
Location 6p22.1  [Link to chromosome band 6p22]
Location_base_pair Starts at 29887573 and ends at 29891079 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)
HLA-A (6p22.1) / HLA-H (6p22.1)HLA-H (6p22.1) / EPAS1 (2p21)HLA-H (6p22.1) / HLA-B (6p21.33)
HLA-H (6p22.1) / HLA-C (6p21.33)HLA-H (6p22.1) / TTC29 (4q31.22)HLA-H (6p22.1) / ZMYND11 (10p15.3)
LOC100507412 (-) / HLA-H (6p22.1)MICB (6p21.33) / HLA-H (6p22.1)YIPF2 (19p13.2) / HLA-H (6p22.1)

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)HLA-H   4965
Cards
Entrez_Gene (NCBI)HLA-H  3136  major histocompatibility complex, class I, H (pseudogene)
AliasesHLAHP
GeneCards (Weizmann)HLA-H
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr6:29887573-29891079 [Contig_View]  HLA-H [Vega]
TCGA cBioPortalHLA-H
AceView (NCBI)HLA-H
Genatlas (Paris)HLA-H
WikiGenes3136
SOURCE (Princeton)HLA-H
Genetics Home Reference (NIH)HLA-H
Genomic and cartography
GoldenPath hg38 (UCSC)HLA-H  -     chr6:29887573-29891079 +  6p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HLA-H  -     6p22.1   [Description]    (hg19-Feb_2009)
GoldenPathHLA-H - 6p22.1 [CytoView hg19]  HLA-H - 6p22.1 [CytoView hg38]
Mapping of homologs : NCBIHLA-H [Mapview hg19]  HLA-H [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK090500 AK293556 AK299998 AK300878 AK308374
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)NC_000006 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)HLA-H
Cluster EST : UnigeneHs.728808 [ NCBI ]
CGAP (NCI)Hs.728808
Gene ExpressionHLA-H [ NCBI-GEO ]   HLA-H [ EBI - ARRAY_EXPRESS ]   HLA-H [ SEEK ]   HLA-H [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3136
GTEX Portal (Tissue expression)HLA-H
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01893   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01893  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01893
Splice isoforms : SwissVarP01893
PhosPhoSitePlusP01893
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I-like_Ag-recog    MHC_I-like_Ag-recog_sf    MHC_I/II-like_Ag-recog    MHC_I_a_a1/a2    MHC_I_a_C   
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_I (PF00129)    MHC_I_C (PF06623)   
Domain families : Pfam (NCBI)pfam07654    pfam00129    pfam06623   
Domain families : Smart (EMBL)IGc1 (SM00407)  
Conserved Domain (NCBI)HLA-H
DMDM Disease mutations3136
Blocks (Seattle)HLA-H
SuperfamilyP01893
Peptide AtlasP01893
IPIIPI00004672   
Protein Interaction databases
DIP (DOE-UCLA)P01893
IntAct (EBI)P01893
BioGRIDHLA-H
STRING (EMBL)HLA-H
ZODIACHLA-H
Ontologies - Pathways
QuickGOP01893
Ontology : AmiGOGolgi membrane  positive regulation of T cell mediated cytotoxicity  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of endogenous peptide antigen via MHC class Ib  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent  signaling receptor binding  protein binding  extracellular space  plasma membrane  plasma membrane  integral component of plasma membrane  immune response  immune response  external side of plasma membrane  cell surface  ER to Golgi transport vesicle membrane  phagocytic vesicle membrane  beta-2-microglobulin binding  early endosome membrane  azurophil granule membrane  peptide antigen binding  MHC class I protein complex  neutrophil degranulation  regulation of immune response  recycling endosome membrane  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIGolgi membrane  positive regulation of T cell mediated cytotoxicity  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of endogenous peptide antigen via MHC class Ib  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent  signaling receptor binding  protein binding  extracellular space  plasma membrane  plasma membrane  integral component of plasma membrane  immune response  immune response  external side of plasma membrane  cell surface  ER to Golgi transport vesicle membrane  phagocytic vesicle membrane  beta-2-microglobulin binding  early endosome membrane  azurophil granule membrane  peptide antigen binding  MHC class I protein complex  neutrophil degranulation  regulation of immune response  recycling endosome membrane  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  integral component of lumenal side of endoplasmic reticulum membrane  
NDEx NetworkHLA-H
Atlas of Cancer Signalling NetworkHLA-H
Wikipedia pathwaysHLA-H
Orthology - Evolution
OrthoDB3136
Phylogenetic Trees/Animal Genes : TreeFamHLA-H
HOGENOMP01893
Homologs : HomoloGeneHLA-H
Homology/Alignments : Family Browser (UCSC)HLA-H
Gene fusions - Rearrangements
Fusion : QuiverHLA-H
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLA-H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-H
dbVarHLA-H
ClinVarHLA-H
1000_GenomesHLA-H 
Exome Variant ServerHLA-H
Varsome BrowserHLA-H
Genetic variants : HAPMAP3136
Genomic Variants (DGV)HLA-H [DGVbeta]
DECIPHERHLA-H [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHLA-H 
Mutations
ICGC Data PortalHLA-H 
TCGA Data PortalHLA-H 
Broad Tumor PortalHLA-H
OASIS PortalHLA-H [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDHLA-H
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 HLA-H
DgiDB (Drug Gene Interaction Database)HLA-H
DoCM (Curated mutations)HLA-H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-H (select a term)
intoGenHLA-H
Cancer3DHLA-H(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHLA-H
MedgenHLA-H
Genetic Testing Registry HLA-H
NextProtP01893 [Medical]
TSGene3136
GENETestsHLA-H
Target ValidationHLA-H
Huge Navigator HLA-H [HugePedia]
snp3D : Map Gene to Disease3136
BioCentury BCIQHLA-H
ClinGenHLA-H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3136
Chemical/Pharm GKB GenePA35084
Clinical trialHLA-H
Miscellaneous
canSAR (ICR)HLA-H (select the gene name)
DataMed IndexHLA-H
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-H
EVEXHLA-H
GoPubMedHLA-H
iHOPHLA-H
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 : Tue Sep 3 15:31:13 CEST 2019

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