This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010] See more...

Aliases for HLA-H Gene

Aliases for HLA-H Gene

  • Major Histocompatibility Complex, Class I, H (Pseudogene) 2 3 5
  • Putative HLA Class I Histocompatibility Antigen, Alpha Chain H 4
  • MHC Class I Antigen H 4
  • HLA-12.4 4
  • HLA-AR 4
  • HLAHP 3
  • HLA-H 5
  • HLAH 4

External Ids for HLA-H Gene

Previous GeneCards Identifiers for HLA-H Gene

  • GC06P029926
  • GC06M029910
  • GC06P029962
  • GC06P029963
  • GC06P029912
  • GC06Pf29990
  • GC06P029858
  • GC06P029655
  • GC06P030063
  • GC06P030178
  • GC06P030087
  • GC06P030099
  • GC06P032184
  • GC06P032420
  • GC06P032554
  • GC06P033180
  • GC06P030340
  • GC06P030485
  • GC06P030686
  • GC06P030850
  • GC06P031013
  • GC06P031170
  • GC06P031342
  • GC06P031599

Summaries for HLA-H Gene

Entrez Gene Summary for HLA-H Gene

  • This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010]

GeneCards Summary for HLA-H Gene

HLA-H (Major Histocompatibility Complex, Class I, H (Pseudogene)) is a Pseudogene. Among its related pathways are Antigen processing-Cross presentation and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and beta-2-microglobulin binding.

UniProtKB/Swiss-Prot Summary for HLA-H Gene

  • Involved in the presentation of foreign antigens to the immune system.

Additional gene information for HLA-H Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLA-H Gene

Genomics for HLA-H Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HLA-H Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLA-H on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the HLA-H gene promoter:
  • AML1a
  • AP-2gamma
  • ATF6
  • Egr-4
  • En-1
  • MyoD
  • Nkx2-5
  • Olf-1
  • STAT1
  • STAT5A

Genomic Locations for HLA-H Gene

Genomic Locations for HLA-H Gene
chr6:29,887,573-29,891,079
(GRCh38/hg38)
Size:
3,507 bases
Orientation:
Plus strand
chr6:29,855,350-29,858,856
(GRCh37/hg19)
Size:
3,507 bases
Orientation:
Plus strand

Genomic View for HLA-H Gene

Genes around HLA-H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-H Gene

  • Protein details for HLA-H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01893-HLAH_HUMAN
    Recommended name:
    Putative HLA class I histocompatibility antigen, alpha chain H
    Protein Accession:
    P01893

    Protein attributes for HLA-H Gene

    Size:
    362 amino acids
    Molecular mass:
    40892 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin).
    SequenceCaution:
    • Sequence=AAA36218.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for HLA-H Gene

Post-translational modifications for HLA-H Gene

  • Glycosylation at Asn110
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HLA-H Gene

Domains & Families for HLA-H Gene

Gene Families for HLA-H Gene

Protein Domains for HLA-H Gene

InterPro:
Blocks:
  • Immunoglobulin C-type
  • MHC class I signature
  • MHC_I, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-H Gene

GenScript: Design optimal peptide antigens:
  • MHC class I antigen H (HLAH_HUMAN)
  • Hereditary haemochromatosis protein (Q9UM46_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01893

UniProtKB/Swiss-Prot:

HLAH_HUMAN :
  • Belongs to the MHC class I family.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HLA-H: view

Function for HLA-H Gene

Molecular function for HLA-H Gene

UniProtKB/Swiss-Prot Function:
Involved in the presentation of foreign antigens to the immune system.
GENATLAS Biochemistry:
HLA class I-like gene H,5.4 Hind III fragment,see HFEC@,MHC1

Phenotypes From GWAS Catalog for HLA-H Gene

Gene Ontology (GO) - Molecular Function for HLA-H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 29764935
GO:0030881 beta-2-microglobulin binding IMP 9162021
GO:0042605 peptide antigen binding IBA 21873635
genes like me logo Genes that share ontologies with HLA-H: view
genes like me logo Genes that share phenotypes with HLA-H: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HLA-H Gene

Localization for HLA-H Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-H Gene

Cell membrane. Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for HLA-H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IBA, TAS --
GO:0005887 integral component of plasma membrane NAS 6461010
GO:0009897 external side of plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with HLA-H: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for HLA-H Gene

Pathways & Interactions for HLA-H Gene

genes like me logo Genes that share pathways with HLA-H: view

Interacting Proteins for HLA-H Gene

Gene Ontology (GO) - Biological Process for HLA-H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity IBA 21873635
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IBA, TAS --
GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib IBA 21873635
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS --
genes like me logo Genes that share ontologies with HLA-H: view

No data available for SIGNOR curated interactions for HLA-H Gene

Drugs & Compounds for HLA-H Gene

No Compound Related Data Available

Transcripts for HLA-H Gene

mRNA/cDNA for HLA-H Gene

7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-H Gene

No ASD Table

Relevant External Links for HLA-H Gene

GeneLoc Exon Structure for
HLA-H

Expression for HLA-H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HLA-H Gene

mRNA differential expression in normal tissues according to GTEx for HLA-H Gene

This gene is overexpressed in Whole Blood (x7.1).

Protein differential expression in normal tissues from HIPED for HLA-H Gene

This gene is overexpressed in Lavage (30.1), Blymphocyte (20.0), and Urine (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HLA-H Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HLA-H

SOURCE GeneReport for Unigene cluster for HLA-H Gene:

Hs.728808
genes like me logo Genes that share expression patterns with HLA-H: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-H Gene

Orthologs for HLA-H Gene

Evolution for HLA-H Gene

ENSEMBL:
Gene Tree for HLA-H (if available)
TreeFam:
Gene Tree for HLA-H (if available)

No data available for Orthologs for HLA-H Gene

Paralogs for HLA-H Gene

genes like me logo Genes that share paralogs with HLA-H: view

No data available for Paralogs for HLA-H Gene

Variants for HLA-H Gene

Structural Variations from Database of Genomic Variants (DGV) for HLA-H Gene

Variant ID Type Subtype PubMed ID
dgv10342n54 CNV loss 21841781
dgv10344n54 CNV loss 21841781
dgv10345n54 CNV loss 21841781
dgv10346n54 CNV loss 21841781
dgv10347n54 CNV loss 21841781
dgv10348n54 CNV loss 21841781
dgv10349n54 CNV loss 21841781
dgv10350n54 CNV loss 21841781
dgv10351n54 CNV loss 21841781
dgv1086e199 CNV deletion 23128226
dgv1087e199 CNV deletion 23128226
dgv114n17 CNV loss 16327808
dgv1726e212 CNV loss 25503493
dgv1727e212 CNV gain 25503493
dgv1728e212 CNV gain 25503493
dgv1729e212 CNV gain 25503493
dgv1730e212 CNV gain 25503493
dgv1731e212 CNV loss 25503493
dgv211e55 CNV loss 17911159
dgv220n111 CNV duplication 26073780
dgv3467e59 CNV duplication 20981092
dgv3468e59 CNV duplication 20981092
dgv5938n100 CNV gain 25217958
dgv739n27 CNV gain 19166990
dgv7e195 CNV deletion 20811451
dgv992e201 CNV deletion 23290073
dgv993e201 CNV deletion 23290073
esv2422126 CNV deletion 20811451
esv2589773 CNV loss 19546169
esv25966 CNV gain+loss 19812545
esv2665698 CNV deletion 23128226
esv2670487 CNV deletion 23128226
esv2731772 CNV deletion 23290073
esv2731775 CNV deletion 23290073
esv2759412 CNV gain+loss 17122850
esv2761013 CNV loss 21179565
esv2763941 CNV gain+loss 21179565
esv3124 CNV loss 18987735
esv32544 CNV gain+loss 17666407
esv3332677 CNV duplication 20981092
esv3351 OTHER complex 18987735
esv3369212 CNV duplication 20981092
esv3567496 CNV deletion 23714750
esv3570849 CNV loss 25503493
esv3608493 CNV loss 21293372
esv3890806 CNV loss 25118596
esv3890807 CNV loss 25118596
esv6014 CNV loss 19470904
esv9076 CNV loss 19470904
nsv1029669 CNV loss 25217958
nsv1074389 CNV deletion 25765185
nsv10810 CNV gain+loss 18304495
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv1161354 CNV deletion 26073780
nsv428139 CNV gain 18775914
nsv433378 CNV gain 18776910
nsv437962 CNV loss 16468122
nsv442976 CNV loss 18776908
nsv499693 CNV loss 21111241
nsv508398 CNV deletion 20534489
nsv511316 CNV gain 21212237
nsv5240 CNV deletion 18451855
nsv526095 CNV gain 19592680
nsv601241 CNV gain 21841781
nsv601264 CNV loss 21841781
nsv601265 CNV loss 21841781
nsv601272 CNV loss 21841781
nsv820564 CNV deletion 20802225
nsv823469 CNV loss 20364138
nsv823470 CNV loss 20364138
nsv965703 CNV duplication 23825009

Additional Variant Information for HLA-H Gene

Human Gene Mutation Database (HGMD)
HLA-H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-H

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) and Variation tolerance for HLA-H Gene

Disorders for HLA-H Gene

Additional Disease Information for HLA-H

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for HLA-H Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HLA-H Gene

Publications for HLA-H Gene

  1. Transcription analysis, physical mapping, and molecular characterization of a nonclassical human leukocyte antigen class I gene. (PMID: 2294403) Chorney MJ … Weissman SM (Molecular and cellular biology 1990) 2 3 23
  2. [Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation]. (PMID: 15359910) Shiobara S … Nakao S ([Rinsho ketsueki] The Japanese journal of clinical hematology 2004) 3 41
  3. Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation. (PMID: 15350465) Kotzampasaki EM … Stavropoulos-Giokas C (Transplantation proceedings 2004) 3 41
  4. HLA-H: a pseudogene with increased variation due to balancing selection at neighboring loci. (PMID: 9866194) Grimsley C … Ober C (Molecular biology and evolution 1998) 3 23
  5. Examination of four HLA class I pseudogenes. Common events in the evolution of HLA genes and pseudogenes. (PMID: 1517564) Geraghty DE … Hansen JA (Journal of immunology (Baltimore, Md. : 1950) 1992) 2 3

Products for HLA-H Gene

Sources for HLA-H Gene