Human Gene HLA-G (uc011gqm.3) Description and Page Index
  Description: Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.
RefSeq Summary (NM_002127): HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: BC021708.2, X17273.1 [ECO:0000331] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:1,096,153-1,276,307 Size: 180,155 Total Exon Count: 6 Strand: +
Coding Region
   Position: chr6_mann_hap4:1,096,224-1,098,488 Size: 2,265 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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+  Comments and Description Text from UniProtKB
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: HLA-G
CDC HuGE Published Literature: HLA-G
Positive Disease Associations: Behcet Syndrome , birth weight; placental weight , Crohn's disease ulcerative colitis , Drug-Induced Liver Injury , HIV , Immunoglobulin E , pre-eclampsia , preeclampsia , pregnancy loss, recurrent , pregnancy loss, recurrent; in vitro fertilization success , sarcoidosis
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  3. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
           more ... click here to view the complete list

+  Comparative Toxicogenomics Database (CTD)
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+  Microarray Expression Data
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+  mRNA Secondary Structure of 3' and 5' UTRs
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-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like_dom
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003597 - Ig_C1-set
IPR011161 - MHC_I-like_Ag-recog
IPR011162 - MHC_I/II-like_Ag-recog
IPR027648 - MHC_I_a
IPR001039 - MHC_I_a_a1/a2

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00129 - Class I Histocompatibility antigen, domains alpha 1 and 2
PF07654 - Immunoglobulin C1-set domain

SCOP Domains:
48726 - Immunoglobulin
54452 - MHC antigen-recognition domain

Protein Data Bank (PDB) 3-D Structure

1YDP
- X-ray Chimera LS-SNP

2D31
- X-ray Chimera LS-SNP

2DYP
- X-ray Chimera LS-SNP
To conserve bandwidth, only the images from the first 3 structures are shown.
3BZE - X-ray Chimera LS-SNP 3CDG - X-ray Chimera LS-SNP 3CII - X-ray Chimera LS-SNP
3KYN - X-ray Chimera LS-SNP 3KYO - X-ray Chimera LS-SNP
Chimera help

ModBase Predicted Comparative 3D Structure on P17693
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

+  Orthologous Genes in Other Species
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+  Descriptions from all associated GenBank mRNAs
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-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis
hsa04514 - Cell adhesion molecules (CAMs)
hsa04612 - Antigen processing and presentation
hsa04650 - Natural killer cell mediated cytotoxicity
hsa04940 - Type I diabetes mellitus
hsa05320 - Autoimmune thyroid disease
hsa05330 - Allograft rejection
hsa05332 - Graft-versus-host disease
hsa05416 - Viral myocarditis

-  Other Names for This Gene
  Alternate Gene Symbols: HLA-6.0, HLAG, HLAG_HUMAN, NM_002127, NP_002118, P17693, U88244, uc011gqm.2
UCSC ID: uc011gqm.3
RefSeq Accession: NM_002127
Protein: P17693 (aka HLAG_HUMAN