|
|
major histocompatibility complex, class I, H (pseudogene)
| |
Aliases
for HLA-H gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Major Histocompatibility Complex, Class I, H (Pseudogene)1 2 | | MHC Class I Antigen H3 | | HLAHP2 | | HFE5 | | HLA-12.43 | | HFE15 | | HLA-AR3 | | MVCD75 | | HLAH3 | | |
Export aliases for HLA-H gene to outside databasesPrevious GC identifers: GC06P029926 GC06M029910 GC06P029962 GC06P029963 GC06P029912 GC06Pf29990 GC06P029655 |
Summaries
for HLA-H gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HLA-H:
This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This genedisplays extensive variation. (provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: HLAH_HUMAN, P01893Function: Involved in the presentation of foreign antigens to the immune system
|
Genomic Views
for HLA-H gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1
- NT_167248.1 NT_167249.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HLA-H gene promoter:
STAT1 AML1a Olf-1 MyoD STAT5A Nkx2-5 AP-2gamma Egr-4 En-1 ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for HLA-H
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-H |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p22.1 HGNC cytogenetic band: 6p21.3HLA-H Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P029858: view genomic region
(about GC identifiers)
Start:
|
29,855,350 bp from pter |
End:
|
29,858,856 bp from pter |
Size:
|
3,507 bases |
Orientation:
|
plus strand |
6/7 alternative locations (see all 7):
| Chr6+,ALT_REF_LOCI_5 29,761,459-29,764,920 | Chr6+,ALT_REF_LOCI_2 29,846,888-29,889,570 | Chr6+,ALT_REF_LOCI_6 29,846,646-29,885,720 | | Chr6+,ALT_REF_LOCI_3 29,847,008-29,861,501 | Chr6+,ALT_REF_LOCI_4 29,769,337-29,772,792 | Chr6+,ALT_REF_LOCI_1 29,793,831-29,805,625 | |
|
Proteins
for HLA-H gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HLAH_HUMAN, P01893 (See
protein sequence)Recommended Name: Putative HLA class I histocompatibility antigen, alpha chain H precursor Size: 362 amino acids; 40892 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin)
Subcellular location: Cell membrane; Single-pass membrane protein (Potential)
Caution: Could be the product of a pseudogene
Sequence caution: Sequence=AAA36218.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Explore the universe of human proteins at neXtProt for HLA-H: NX_P01893
HLA-H Protein expression data from MOPED and PaxDb: About this image 
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
HLA-H for ontologies About GeneDecksing
HLA-H Antibody Products:
Assay Products for HLA-H: |
Protein
Domains /
Families
for HLA-H gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HLA-H for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P01893ProtoNet protein and cluster: P01893 3 Blocks protein families: IPB001039 MHC class I signature IPB003597 Immunoglobulin C-type IPB010579 MHC_I
UniProtKB/Swiss-Prot: HLAH_HUMAN, P01893Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain |
Function
for HLA-H gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HLAH_HUMAN, P01893Function: Involved in the presentation of foreign antigens to the immune system Genatlas biochemistry entry for HLA-H:HLA class I-like gene H,5.4 Hind III fragment,see HFEC@,MHC1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-H
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-H
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for HLA-H | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-H | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HLA-H |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-H |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0032393 | MHC class I receptor activity |
NAS | 6461010 |
HLA-H for ontologies About GeneDecksing
|
Pathways & Interactions
for HLA-H gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ubiquitinated Orc1 is degraded by the proteasome | |
1  BioSystems Pathway for HLA-H
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HLA-H
1 Interacting protein for HLA-H (P018933) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
IEA | -- | | GO:0006955 | immune response |
NAS | 6461010 |
HLA-H for ontologies About GeneDecksing
|
Drugs & Compounds
for HLA-H gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for HLA-H
Search CenterWatch for drugs/clinical trials and news about HLA-H
|
Transcripts
for HLA-H gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
Unigene Cluster for HLA-H: Major histocompatibility complex, class I, H (pseudogene) Hs.728808 [show with all ESTs]Unigene Representative Sequence: AK0905002 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000383620(uc021ytv.1 uc021ytw.1 uc021ytx.1) ENST00000383326(uc010jro.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-H
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-H
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for HLA-H | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-H | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HLA-H |
Additional cDNA sequence: AK090500.1 AK293556.1 AK299998.1 AK300878.1 AK308374.1 AK309163.1 AK309480.1 NR_001434.2 22 DOTS entries: DT.100058894 DT.91680045 DT.100855576 DT.86995001 DT.95223958 DT.95376774 DT.100044088 DT.100647401 DT.100733374 DT.100733386 DT.100733433 DT.100849442 DT.121310281 DT.453586 DT.75111233 DT.91783956 DT.91787286 DT.91911697 DT.95270461 DT.95331704 DT.95376642 DT.95378900 24/1003 AceView cDNA sequences (see all 1003): BQ639905 CA428125 AA366076 AW236359 BG420296 AI568109 BM555389 BQ690219 AA350145 CF552473 BG754928 AI370977 AW236295 BM821196 AI271725 CA392795 AW574549 AW364302 BM992518 AA588477 BM991437 AU279942 AI041978 BX439073
GeneLoc Exon Structure
|
Expression
for HLA-H gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HLA-H expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See HLA-H Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.728808
SABiosciences Custom PCR Arrays for HLA-H
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-H
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat HLA-H | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLA-H | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-H | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-H |
Orthologs
for HLA-H gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
--
ENSEMBL Gene Tree for HLA-H (if available)
TreeFam Gene Tree for HLA-H (if available) |
Paralogs
for HLA-H gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HLA-H gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HLA-H (29855350 - 29858856 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 25 variations for HLA-H
15/25 CNVs (see all 25): 64462 7558 93590 64461 6756 37607 99483 64460 2622 93588 6760 32776 6763 9032 4669
Locus Specific Mutation Databases (LSDB): HLA-H
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for HLA-H gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HLA-H for disorders About GeneDecksing
OMIM gene information: 613609
OMIM disorders: 235200 612635 176200 176100 104300 190000
10  diseases for HLA-H: About MalaCardsporphyria cutanea tarda transferrin serum level qtl porphyria variegata microvascular complications of diabetes 7
porphyria alzheimer's disease hemochromatosis hepatitis b
hepatitis leukemia
Genetic Association Database (GAD): HLA-H
Human Genome Epidemiology (HuGE) Navigator: HLA-H (3360 documents)
Export disorders for HLA-H gene to outside databases
|
Publications
for HLA-H gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HLA-H gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with HLA-H) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Transcription analysis, physical mapping, and molecular characterization of a nonclassical human leukocyte antigen class I gene. (PubMed id 2294403)1, 3, 9 Chorney M.J....Weissman S.M. (1990)
- Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation. (PubMed id 15350465)1, 4 Kotzampasaki E.M....Stavropoulos-Giokas C. (2004)
- [Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation] (PubMed id 15359910)1, 4 Shiobara S....Nakao S. (2004)
- Examination of four HLA class I pseudogenes. Common events in the evolution of HLA genes and pseudogenes. (PubMed id 1517564)1, 3 Geraghty D.E....Hansen J.A. (1992)
- Exon/intron organization and complete nucleotide sequence of an HLA gene. (PubMed id 6461010)1, 2 Malissen M.... Jordan B.R. (1982)
- HLA-H: a pseudogene with increased variation due to balancing selection at neighboring loci. (PubMed id 9866194)1, 9 Grimsley C....Ober C. (1998)
- A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
|
External Searches for HLA-H gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HLA-H gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HLA-H gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HLA-H gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HLA-H | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for HLA-H gene:
Search GeneIP for patents involving HLA-H
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HLA-H gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HLA-H | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HLA-H | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-H | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HLA-H | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-H | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-H | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HLA-H | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HLA-H | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-H | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLA-H | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-H | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLA-H |
| |
 |  |  |  | |
| | | | Search Tocris compounds for HLA-H |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | HLA-H Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-H |
|  |  |  | | | | Search ThermoFisher Antibodies for HLA-H |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HLA-H |
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