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

HCP5 Gene

RNA gene   GIFtS: 39
GCID: GC06P031375

HLA complex P5 (non-protein coding)

(Previous name: HLA complex P5 )
 Explore 6 diseases affiliated with
HCP5 via our new
 Human Malady Compendium 
Biological research products
for HCP5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Subcategory (RNA class): processed_transcript

Quality score for this RNA gene is 3

Aliases
HLA Complex P5 (Non-Protein Coding)1 2     HLA Complex P51
D6S2650E1 2     HLA Complex Protein P53
P5-11 2     Protein P5-13
6S2650E2 5     

External Ids:    HGNC: 216591   Entrez Gene: 108662   Ensembl: ENSG000002063377   OMIM: 6046765   UniProtKB: Q6MZN73   

Export aliases for HCP5 gene to outside databases

Previous GC identifers: GC06P031201 GC06P031535 GC06P031538 GC01M241088 GC06P031430 GC06Pj31419 GC06P031372


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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_167247.1  NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HCP5 gene promoter:
         AhR   Egr-1   Pax-2   Pax-2a   Arnt   Egr-4   AREB6   c-Rel   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCP5 promoter sequence
   Search SABiosciences Chromatin IP Primers for HCP5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCP5


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

HCP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCP5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031375:  view genomic region     (about GC identifiers)

Start:
31,368,479 bp from pter      End:
31,445,283 bp from pter
Size:
76,805 bases      Orientation:
plus strand

3 alternative locations:
Chr6+,ALT_REF_LOCI_5 31,423,327-31,424,790      Chr6+,ALT_REF_LOCI_7 31,351,192-31,353,821      Chr6+,ALT_REF_LOCI_2 31,418,402-31,460,224     

(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: HCP5_HUMAN, Q6MZN7 (See protein sequence)
Recommended Name: HLA class I histocompatibility antigen protein P5  
Size: 132 amino acids; 14098 Da
Miscellaneous: Variation Gly-112 is associated with low viral loads in untreated HIV patients. The level of circulating
virus in the plasma of HIV patients (viral set point) varies among individuals during the nonsymptomatic phase
preceding the progression to AIDS. This polymorphism explains 9.6% of the total variation in set point and is
associated with the HLA-B*5701 allele, which has the strongest described protective impact on HIV disease progression.
However, it is possible that HPC5 polymorphism, and not HLA-B*5701 allele, plays a direct role in the control in
viremia in HIV patients
Miscellaneous: HCP5 is localized within the MHC class I region, but is not structurally related to MHC class I genes.
HCP5 is related in sequence to human endogenous retroviruses HERV-L and HERV-16. It has sequence homology with
retroviral Pol genes in HERV retroviral element; thus, it is itself a good candidate to interact with HIV-1, possibly
through an antisense mechanism against retroviral transcript
Sequence caution: Sequence=AAA59986.1; Type=Frameshift; Positions=58, 125;
Secondary accessions: Q04490

Explore the universe of human proteins at neXtProt for HCP5: NX_Q6MZN7

HCP5 Protein expression data from MOPED and PaxDb:    About this image 
HCP5 Protein Expression

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

ProtoNet protein and cluster: Q6MZN7


(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

Animal Models:
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HCP5 

miRNA
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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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HCP5

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006952defense response TAS8462994

HCP5 for ontologies           About GeneDecksing



(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
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Browse Tocris compounds for HCP5
Search CenterWatch for drugs/clinical trials and news about HCP5 

(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 HCP5:

HLA complex P5 (non-protein coding)
Hs.691948  [show with all ESTs]
Unigene Representative Sequence: NR_040662
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000414046(uc003ntl.3) ENST00000460889 ENST00000467369 ENST00000541196


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Inhib. RNA
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Additional cDNA sequence: 

AJ437509.2 AK093953.1 AK290875.1 BC106759.2 BC113853.1 BC114462.1 BX640979.1 L06175.1 
L29367.1 NR_040662.1 

10 DOTS entries:

DT.97768739  DT.313725  DT.100688520  DT.92422376  DT.100688519  DT.92070423  DT.100020361  DT.100866984 
DT.95340351  DT.95272356 

24/109 AceView cDNA sequences (see all 109):

AW188708 BI835464 AI911613 BU687810 BQ925322 BX640979 AI889617 AL555668 
BQ943852 T28905 AA890242 AI872340 AJ437509 NM_006674 AI282556 AK093953 
CR626077 BU620516 AA642585 AA149082 BM836915 AI624797 AA313338 BQ935363 

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

Expression evidence for HCP5:none

HCP5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGTTGTCAA
HCP5 Expression
About this image
See HCP5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HCP5

SOURCE GeneReport for Unigene cluster: Hs.691948

UniProtKB/Swiss-Prot: HCP5_HUMAN, Q6MZN7
Tissue specificity: Expressed in lymphoid tissues; Detected in spleen as well as in B-cell lines, NK cell lines and
activated lymphocytes

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In Situ
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(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 HCP5 (if available)
TreeFam Gene Tree for HCP5 (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

10/130 NCBI SNPs in HCP5 are shown (see all 130    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs25964721,2
C,F,A,H--31428967(+) AAGCCA/GTATGT 1 -- us2k129Minor allele frequency- G:0.18NS EA NA WA CSA 2846
rs773492731,2
C,F--31428987(+) CATTGC/TTATTT 1 -- us2k11Minor allele frequency- T:0.16NA 120
rs1846920151,2
--31429113(+) GGCTCA/TCATTT 1 -- us2k10--------
rs1891418791,2
--31429119(+) CATTTA/GTAATT 1 -- us2k10--------
rs796396021,2
C--31429228(+) TTAAAA/CATTAG 1 -- us2k10--------
rs1817512201,2
--31429239(+) TCAGCC/TATGGT 1 -- us2k10--------
rs1172980431,2
F--31429286(+) GAGGCG/AGAAGG 1 -- us2k11Minor allele frequency- A:0.02EA 120
rs1125006591,2
--31429296(+) GATCAG/CTTGAG 1 -- us2k11Minor allele frequency- C:0.50CSA 2
rs1466443461,2
--31429403(+) AAATAA/GATAGA 1 -- us2k10--------
rs1868281771,2
--31429410(+) TAGAAA/GTTATA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HCP5 (31368479 - 31445283 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 25 variations for HCP5
     15/24 CNVs (see all 24): 47978 8509 3601 36506 51892 8510 34591 2625 34518 64473 7564 93623 34623 32782 53986
     1 Indel: 43716
Human Gene Mutation Database (HGMD): HCP5

SABiosciences Cancer Mutation PCR Assays
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(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

HCP5 for disorders           About GeneDecksing

OMIM gene information: 604676    OMIM disorders: --

6 diseases for HCP5:    About MalaCards
systemic lupus erythematosus    lupus erythematosus    psoriatic arthritis    arthritis
psoriasis    toxic epidermal necrolysis

Human Genome Epidemiology (HuGE) Navigator: HCP5 (15 documents)

Export disorders for HCP5 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 HCP5 gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with HCP5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The P5 multicopy gene family in the MHC is related in sequence to human endogenous retroviruses HERV-L and HERV-16. (PubMed id 10199916)1, 2, 3 Kulski J.K. and Dawkins R.L. (1999)
  2. A novel coding sequence belonging to a new multicopy gene family mapping within the human MHC class I region. (PubMed id 8462994)1, 2, 3 Vernet C....Pontarotti P. (1993)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  4. A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. (PubMed id 21912425)1 Tohkin M....Ikezawa Z. (2013)
  5. Novel associations for hypothyroidism include known au toimmune risk loci. (PubMed id 22493691)1 Eriksson N....Do C.B. (2012)
  6. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
  7. Association of the genetic marker for abacavir hypers ensitivity HLA-B*5701 with HCP5 rs2395029 in Mexican Mestizos. (PubMed id 21510768)1 Sanchez-Giron F....Carnevale A. (2011)
  8. Rising HIV-1 viral load set point at a population lev el coincides with a fading impact of host genetic factors on HIV-1 control. (PubMed id 21860345)1 van Manen D....Schuitemaker H. (2011)
  9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  10. Genome-wide association study of Stevens-Johnson Synd rome and Toxic Epidermal Necrolysis in Europe. (PubMed id 21801394)1 GAcnin E....Mockenhaupt M. (2011)

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

  Query String
PubMed
OMIM
NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 10866 HGNC: 21659 AceView: HCP5 Ensembl:ENSG00000206337 euGenes: HUgn10866
ECgene: HCP5 H-InvDB: HCP5

(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 HCP5 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 HCP5 gene:
Search GeneIP for patents involving HCP5

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
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About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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VWF
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von Willebrand factor
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