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

HHLA3 Gene

protein-coding   GIFtS: 39
GCID: GC01P070820

HERV-H LTR-associating 3

  Search for HHLA3
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
HERV-H LTR-Associating 31 2
Human Endogenous Retrovirus-H Long Terminal Repeat-Associating Protein 32 3
HERV-H LTR-Associating Protein 32
Human Endogenous Retrovirus-H Long Terminal Repeat-Associating 32

External Ids:    HGNC: 49061   Entrez Gene: 111472   Ensembl: ENSG000001975687   OMIM: 6043725   UniProtKB: Q9XRX53   

Export aliases for HHLA3 gene to outside databases

Previous GC identifers: GC01P070944 GC01P069743 GC01P070205 GC01P070190 GC01P070532 GC01P068931


(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HHLA3 gene promoter:
         COUP-TF1   GATA-3   AML1a   COUP   HNF-4alpha2   GATA-2   GATA-1   HNF-4alpha1   HEN1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHHLA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for HHLA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HHLA3


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

Entrez Gene cytogenetic band: 1p31.1   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31.1

HHLA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HHLA3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P070820:  view genomic region     (about GC identifiers)

Start:
70,820,488 bp from pter      End:
70,851,022 bp from pter
Size:
30,535 bases      Orientation:
plus strand

(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: HHLA3_HUMAN, Q9XRX5 (See protein sequence)
Recommended Name: HERV-H LTR-associating protein 3  
Size: 114 amino acids; 12913 Da
Sequence caution: Sequence=AAD33288.1; Type=Frameshift; Positions=72;
Secondary accessions: D3DQ74 Q5VZP2 Q96FH5 Q9XRX4
Alternative splicing: 3 isoforms:  Q9XRX5-4   Q9XRX5-2   Q9XRX5-3   

Explore the universe of human proteins at neXtProt for HHLA3: NX_Q9XRX5

HHLA3 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (3 alternative transcripts): 
NP_001026863.1  NP_001031722.1  NP_001031723.1  

ENSEMBL proteins: 
 ENSP00000354815   ENSP00000352938   ENSP00000432048   ENSP00000359978   ENSP00000431678  
 ENSP00000434063   ENSP00000395155  

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Uscn ELISAs and CLIAs for HHLA3


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

ProtoNet protein and cluster: Q9XRX5


(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

miRNA
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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI16189514


HHLA3 for ontologies           About GeneDecksing



(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 HHLA3

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for HHLA3 (Q9XRX51, 3 ENSP000003599784) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
InteractantInteraction Details
GeneCardExternal ID(s)
NMIQ132871, 3, ENSP000002433464EBI-750554,EBI-372942 I2D: score=5 STRING: ENSP00000243346
CHRM3ENSP000002553804STRING: ENSP00000255380
LRRC29ENSP000003443644STRING: ENSP00000344364
PCDH15ENSP000003549504STRING: ENSP00000354950
TP53BP2ENSP000003419574STRING: ENSP00000341957
About this table

(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 HHLA3
Search CenterWatch for drugs/clinical trials and news about HHLA3 

(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

REFSEQ mRNAs for HHLA3 gene (4 alternative transcripts): 
NM_007071.2  NM_001031693.2  NM_001036645.1  NM_001036646.1  

Unigene Cluster for HHLA3:

HERV-H LTR-associating 3
Hs.142245  [show with all ESTs]
Unigene Representative Sequence: NM_001036645
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000361764 ENST00000359875(uc001dfb.3 uc001dfa.3 uc001dfc.3)
ENST00000486110 ENST00000463058(uc010oqp.2) ENST00000370940 ENST00000531950
ENST00000525653 ENST00000432224

miRNA
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Inhib. RNA
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Additional cDNA sequence: 

AF126163.1 BC010922.1 NR_027404.1 

4 DOTS entries:

DT.86855512  DT.40200675  DT.453870  DT.99928763 

24/42 AceView cDNA sequences (see all 42):

BX105337 CR595442 CK429743 BQ787849 BQ673373 AA689437 BU731616 AI754552 
AF126163 BG773961 BC010922 BG196895 AL583502 BM906004 BI868263 CA395526 
BQ787667 N33882 NM_007071 BU860794 BM708957 BF968417 AA600248 AF126164 

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for HHLA3 (see all 7)    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1:                          -                                                   
SP2:                          -     -     -                                       
SP3:                          -     -     -                                       
SP4:                          -     -     -           -                           
SP5:                                -     -           -                           


ECgene alternative splicing isoforms for HHLA3

(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

HHLA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATACATCCA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See HHLA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HHLA3

SOURCE GeneReport for Unigene cluster: Hs.142245

UniProtKB/Swiss-Prot: HHLA3_HUMAN, Q9XRX5
Tissue specificity: Expressed in kidney and liver

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In Situ
Assay Products:
 

 
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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 HHLA3 (if available)
TreeFam Gene Tree for HHLA3 (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

10/228 NCBI SNPs in HHLA3 are shown (see all 228    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs803092051,2
F,--70818498(+) TTGGGG/AATTTA 5 -- us2k1 int11Minor allele frequency- A:0.14EA 120
rs1818184021,2
--70818516(+) TGATAC/GGTGGT 5 -- int1 us2k10--------
rs1848423841,2
--70818543(+) CAACAC/TTGTAA 5 -- int1 us2k10--------
rs120362561,2
C,F,A,H,--70818576(+) TTAGAT/GAATTA 5 -- int1 us2k123Minor allele frequency- G:0.21NA NS EA WA CSA 2483
rs1883992751,2
--70818582(+) AATTAC/TACAGC 5 -- int1 us2k10--------
rs1510618331,2
--70818613(+) TTTTTA/TATCTG 5 -- int1 us2k10--------
rs729292971,2
C,--70818675(+) CACAGG/CCAAAT 5 -- us2k1 int11Minor allele frequency- C:0.50WA 2
rs1162613121,2
F,--70818846(+) TCTTCA/CATAAT 5 -- int1 us2k11Minor allele frequency- C:0.02WA 118
rs1158236201,2
C,--70818922(+) CTGACA/CAGGCA 5 -- int1 us2k10--------
rs1155290331,2
C,--70818984(+) ACTATG/TTTTAG 5 -- us2k1 int10--------

HapMap Linkage Disequilibrium report for HHLA3 (70820488 - 70851022 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HHLA3
     1 CNV: 63986

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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

HHLA3 for disorders           About MalaCards

HHLA3 for disorders           About GeneDecksing

OMIM gene information: 604372    OMIM disorders: --


Export disorders for HHLA3 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 HHLA3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HHLA3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3). (PubMed id 10444326)1, 2, 3, 9 Mager D.L.... Freeman J.D. (1999)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
  6. 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)

(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: 11147 HGNC: 4906 AceView: HHLA3 Ensembl:ENSG00000197568 euGenes: HUgn11147
ECgene: HHLA3 H-InvDB: HHLA3

(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 HHLA3 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 HHLA3 gene:
Search GeneIP for patents involving HHLA3

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, 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

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

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Category
VWF
(GIFTS: 73)
von Willebrand factor
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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