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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HLA-J Gene

pseudogene   GIFtS: 34
GCID: GC06P029989

major histocompatibility complex, class I, J (pseudogene)


(Previous symbols: HLA-CDA12, D6S203)
 Explore 1 disease affiliated with
HLA-J via our new
 Human Malady Compendium 
Biological research products
for HLA-J
    

(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, J (Pseudogene)1 2
CDA121 2
D6S2031 2
HLA-591 2
HLA-CDA121 2

External Ids:    HGNC: 49671   Entrez Gene: 31372   Ensembl: ENSG000002046227   UniProtKB: Q301754   

Export aliases for HLA-J gene to outside databases

Previous GC identifers: GC06U990057 GC06M030029 GC06P029857 GC06P029905 GC06P030018 GC06P029908 GC06P029909 GC06P029910 GC06P030082 GC06P030073 GC06P029979 GC06P029984


(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-J:
This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. (provided
by RefSeq, May 2010)




(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-J gene promoter:
         ER-alpha   GATA-3   p53   HSF1 (long)   E4BP4   HEN1   HSF2   HSF1short   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HLA-J

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-J


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.31   Ensembl cytogenetic band:  6p22.1   HGNC cytogenetic band: 6p21.3

HLA-J Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-J gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P029989:  view genomic region     (about GC identifiers)

Start:
29,973,748 bp from pter      End:
29,977,733 bp from pter
Size:
3,986 bases      Orientation:
plus strand

6/7 alternative locations (see all 7):
Chr6+,ALT_REF_LOCI_5 29,967,035-29,971,020      Chr6+,ALT_REF_LOCI_3 29,964,306-29,978,717      Chr6+,ALT_REF_LOCI_4 29,891,981-29,895,966     
Chr6+,ALT_REF_LOCI_1 29,910,811-29,922,484      Chr6+,ALT_REF_LOCI_2 29,963,870-30,006,431      Chr6+,ALT_REF_LOCI_6 29,963,880-30,002,820     

(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/TrEMBL: Q30175 (See protein sequence)
Recommended Name: MHC class I HLA-J antigen  
Size: 218 amino acids; 24841 Da


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HLA-J for domains           About GeneDecksing

3 InterPro domains/families:
 IPR011162 MHC_I/II-like_Ag-recog
 IPR011161 MHC_I-like_Ag-recog
 IPR001039 MHC_I_a_a1/a2

Graphical View of Domain Structure for InterPro Entry Q30175

ProtoNet protein and cluster: Q30175

1 Blocks protein family: IPB001039 MHC class I signature

UniProtKB/TrEMBL: Q30175
Similarity: Belongs to the MHC class I family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:
     Genatlas biochemistry entry for HLA-J:
HLA class I-like gene J,5.9 Hind III fragment,see MHC1

Animal Models:
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HLA-J 

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Sirion Biotech Customized inducible overexpressing cell line services for HLA-J

In Situ Assay
Products:
   

 
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(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-pathwaycontained gene-specific pathways
1Ubiquitinated Orc1 is degraded by the proteasome
Proteasome Degradation0.56


1 BioSystems Pathway for HLA-J 
    Proteasome Degradation


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HLA-J

(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 Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HLA-J
Search CenterWatch for drugs/clinical trials and news about HLA-J 

(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, Sirion Biotech, 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-J:

Major histocompatibility complex, class I, J (pseudogene)
Hs.720762  [show with all ESTs]
Unigene Representative Sequence: NR_024240
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000469281(uc003nou.4 uc003rtl.4) ENST00000462773(uc003nov.4)
ENST00000495278(uc021yty.1) ENST00000494367

miRNA
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Inhib. RNA
Products:
     
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Browse OriGene siRNA
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Clone
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-J

Additional cDNA sequence: 

BC020891.1 BC062324.1 BC089454.1 NR_024240.1 

8 DOTS entries:

DT.102843761  DT.99933773  DT.121345683  DT.121345984  DT.91806393  DT.100733440  DT.91783875  DT.95376858 

2 AceView cDNA sequences:

BC020891 BC062324 

GeneLoc Exon Structure


(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-J expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
HLA-J Expression
About this image
Genevestigator expression for HLA-J

SOURCE GeneReport for Unigene cluster: Hs.720762
    SABiosciences Custom PCR Arrays for HLA-J

Primer
Products:
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-J
In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HLA-J

(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-J (if available)
TreeFam Gene Tree for HLA-J (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(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

10/183 NCBI SNPs in HLA-J are shown (see all 183    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs94686781,2
C,F,H--29971788(+) acctcC/Ttggtc 2 -- us2k1 int17Minor allele frequency- T:0.01NS EA NA MN WA 630
rs92610991,2
C,F--29971913(+) TGGACT/CGTCCT 2 -- int1 us2k16Minor allele frequency- C:0.06NA MN CSA WA EA 452
rs1849995321,2
--29971942(+) AAGGAC/TTGGGT 2 -- int1 us2k10--------
rs1504049011,2
--29971947(+) CTGGGC/TTCTTC 2 -- int1 us2k10--------
rs117546051,2
C,F,H--29971973(+) cacagT/Cgtgag 2 -- int1 us2k11Minor allele frequency- C:0.11MN 90
rs92611001,2
C,F,H--29972049(+) AACACT/CGGTGG 2 -- us2k1 int16Minor allele frequency- C:0.03NS EA MN NA 626
rs1121129751,2
C--29972083(+) TCCCTA/GTTCTC 2 -- us2k1 int10--------
rs94686791,2
C,F,H--29972188(+) aatgaA/Ggactc 2 -- int1 us2k15Minor allele frequency- G:0.02NS EA WA 536
rs3569651,2
C,F--29972328(-) tgtcaG/Actcct 2 -- us2k1 int14Minor allele frequency- A:0.02NA MN WA 330
rs69111251,2
C--29972389(+) tgagaC/Tactcg 2 -- int1 us2k10--------

HapMap Linkage Disequilibrium report for HLA-J (29973748 - 29977733 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for HLA-J
     2 CNVs: 99484 3599
Locus Specific Mutation Databases (LSDB): HLA-J

SABiosciences Cancer Mutation PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for HLA-J

(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-J for disorders           About GeneDecksing

1 disease for HLA-J:    About MalaCards
multiple sclerosis

Human Genome Epidemiology (HuGE) Navigator: HLA-J (2813 documents)

Export disorders for HLA-J gene to outside databases

(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-J gene integrated from 9 sources:
(articles sorted by number of sources associating them with HLA-J)
    Utopia: connect your pdf to the dynamic
world of online information

  1. HLA-J, a second inactivated class I HLA gene related to HLA-G and HLA-A. Implications for the evolution of the HLA-A-related genes. (PubMed id 1602142)1, 3 Messer G....Girdlestone J. (1992)
  2. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
  3. A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01. (PubMed id 20593013)1 Cree B.A.... . (2010)
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  6. A physical map including a new class I gene (cda12) o f the human major histocompatibility complex (A2/B13 haplotype) derived from a monosomy 6 mutant cell line. (PubMed id 2497062)1 Ragoussis J....Ziegler A. (1989)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 3137 HGNC: 4967 AceView: HLA-J Ensembl:ENSG00000204622 euGenes: HUgn3137
ECgene: HLA-J H-InvDB: HLA-J

(According to HUGE)
About This Section
  --

(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
NameDescription
PharmGKB entry for HLA-J Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for HLA-J gene:
Search GeneIP for patents involving HLA-J

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
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