HHLA3 Gene
protein-coding GIFtS: 41
GCID: GC01P070820
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HERV-H LTR-Associating 3
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Aliases
for HHLA3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
10fRNAdb,
12H-InvDB,
13NCBI,
14NONCODE,
and/or 15RNAdb)
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| 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 |
Export aliases for HHLA3 gene to outside databasesPrevious GC identifers: GC01P070944 GC01P069743 GC01P070205 GC01P070190 GC01P070532 GC01P068931 |
Summaries
for HHLA3 gene(According to Entrez Gene,
GeneCards,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
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GeneCards Summary for HHLA3 Gene:
HHLA3 (HERV-H LTR-associating 3) is a protein-coding gene.
|
Genomic Views
for HHLA3 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 75),
Regulatory elements and Epigenetics data according to
QIAGEN, and/or
SwitchGear Genomics)
About This Section
TryGeneCards Plus | RefSeq DNA sequence:- NC_000001.11 NC_018912.2 NT_032977.10
Regulatory elements:
 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
Search Chromatin IP Primers for HHLA3
Epigenetics:
| | DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 1p31.1HHLA3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P070820: view genomic region
(about GC identifiers)
Start:
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70,820,488 bp from pter |
End:
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70,851,022 bp from pter |
Size:
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30,535 bases |
Orientation:
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plus strand |
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Proteins
for HHLA3 gene
(According to
1UniProtKB,
HORDE,
2neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to PhosphoSitePlus,
Specific Peptides from DME,
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
Cloud-Clone Corp.,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Cloud-Clone Corp.,
Antibodies by
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
LSBio,
Abcam, and/or
Cloud-Clone Corp.)
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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 Q9XRX4Alternative splicing: 3 isoforms: Q9XRX5-4 Q9XRX5-2 Q9XRX5-3 Explore the universe of human proteins at neXtProt for HHLA3: NX_Q9XRX5
Explore proteomics data for HHLA3 at MOPED
See HHLA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB
REFSEQ proteins (3 alternative transcripts):
NP_001026863.1 NP_001031722.1 NP_001031723.1
ENSEMBL proteins: ENSP00000354815 ENSP00000352938 ENSP00000432048 ENSP00000359978 ENSP00000431678 ENSP00000434063 ENSP00000395155
HHLA3 Human Recombinant
Protein Products:HHLA3 Antibody
Products:HHLA3 Assay Products: |
Domains /
Families
for HHLA3 gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
TryGeneCards Plus | ProtoNet protein and cluster: Q9XRX5 |
Function
for HHLA3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
genOway,
transcription factor targeting from QIAGEN
and/or HOMER,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
SwitchGear Genomics,
Gene Editing from DNA2.0,
Clones from OriGene,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
ESI BIO,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Gene Ontology (GO): 1 molecular function term: About this table
HHLA3 for ontologies About GeneDecksing
Animal Models:
Inhib. RNA
Products: |  | OriGene RNAi products in human, mouse, rat for HHLA3
| | | Predesigned siRNA for gene silencing in human, mouse, rat HHLA3 |
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for HHLA3 | |  | Browse ESI BIO Cell Lines and PureStem Progenitors for HHLA3  | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA3 |
Localization
for HHLA3 gene
(According to UniProtKB, COMPARTMENTS Subcellular localization database,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Subcellular locations from COMPARTMENTS:
| Compartment | Confidence |
|---|
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| extracellular | 2 | | cytosol | 1 | | nucleus | 1 |
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Pathways & Interactions
for HHLA3 gene
(SuperPaths according to PathCards,
Pathways according to
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Sino Biological,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
QIAGEN,
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 Apr 2014 via
Entrez Gene).
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Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HHLA3
Interactions:
Search GeneGlobe Interaction Network for HHLA3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
Selected Interacting proteins for HHLA3 (Q9XRX51, 3 ENSP000003599784) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
|
Drugs & Compounds
for HHLA3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience,
ApexBio,
HMDB,
BitterDB, and/or
Novoseek,
Ligands according to IUPHAR,
and Drugs according to DrugBank,
Enzo Life Sciences, and/or
PharmGKB)
About This Section
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 Browse compounds at ApexBio
 Browse Tocris compounds for HHLA3
|
Transcripts
for HHLA3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
Conferences by KenesGroup,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
SwitchGear Genomics,
Tagged/untagged cDNA clones from
OriGene,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene, and/or
QIAGEN
)
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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_0010366458 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
Inhib. RNA
Products: | | OriGene RNAi products in human, mouse, rat for HHLA3
| |
| | Predesigned siRNA for gene silencing in human, mouse, rat HHLA3 |
Primer
Products: | | OriGene qPCR primer pairs and template standards for HHLA3
OriGene qSTAR qPCR primer pairs in human, mouse for HHLA3
| | | Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HHLA3 | | | QuantiTect SYBR Green Assays in human, mouse, rat HHLA3 | | | QuantiFast Probe-based Assays in human, mouse, rat HHLA3 |
Additional mRNA sequence: AF126163.1 BC010922.1 NR_027404.1 4 DOTS entries: DT.86855512 DT.40200675 DT.453870 DT.99928763 Selected AceView cDNA sequences (see all 42): BQ787849 BU731616 BX105337 BQ673373 CR595442 AA689437 CK429743 AA235113 BM906004 BU860794 BI868263 BF968417 NM_007071 AF126163 AA600248 N33882 AI754552 AA283852 AL583502 BG196895 AF126164 BM708957 AI276859 CA395526
GeneLoc Exon Structure
Selected 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 |
|---|
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| SP1: | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | - | | - | | | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | - | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for HHLA3
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Expression
for HHLA3 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™,
Protein expression images according to data from SPIRE 1MOPED,
2PaxDb, and 3MaxQB,
plus additional links to
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
QIAGEN,
Primers from
OriGene, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HHLA3 expression in normal human tissues
(normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATACATCCA
About this image HHLA3 Protein expression data from MOPED1, PaxDb2 and
MaxQB3:  About this image
SOURCE GeneReport for Unigene cluster: Hs.142245
UniProtKB/Swiss-Prot: HHLA3_HUMAN, Q9XRX5Tissue specificity: Expressed in kidney and liver
Custom PCR Arrays for HHLA3
Primer
Products: | | OriGene qPCR primer pairs and template standards for HHLA3
OriGene qSTAR qPCR primer pairs in human, mouse for HHLA3
| | | Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HHLA3 | | | QuantiTect SYBR Green Assays in human, mouse, rat HHLA3 | | | QuantiFast Probe-based Assays in human, mouse, rat HHLA3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA3 |
Orthologs
for HHLA3 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)
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This gene was present in the common ancestor of human and chimp.
Orthologs for HHLA3 gene from 1 species (see representative species ) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chimpanzee
(Pan troglodytes) |
Mammalia |
HHLA36 |
HERV-H LTR-associating 3 |
97(a) |
1 ↔ 1 |
1(70996647-71009476) |
ENSEMBL Gene Tree for HHLA3 (if available)
TreeFam Gene Tree for HHLA3 (if available) |
Paralogs
for HHLA3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Genomic Variants
for HHLA3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
4UniProtKB, 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), the Human Cytochrome P450 Allele
Nomenclature Database, and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HHLA3 (70820488 - 70851022 bp)
Structural Variations
Database of Genomic Variants (DGV) 2 variations for HHLA3: About this table
| | Site Specific Mutation Identification with PCR Assays |
| | SeqTarget long-range PCR primers for resequencing HHLA3 |
|
Disorders
/ Diseases
for HHLA3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Conferences by KenesGroup,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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OMIM gene information: 604372
OMIM disorders: --
HHLA3 for disorders About GeneDecksing
Export disorders for HHLA3 gene to outside databases
|
Publications
for HHLA3 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)
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PubMed articles for HHLA3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with HHLA3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (Genomics 1999)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
- 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. (Genome Res. 2004)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
- 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
|
External Searches for HHLA3 gene (in PubMed,
OMIM, and NCBI Bookshelf)
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|
Genome Databases showing HHLA3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
Other Databases showing HHLA3 gene
(According to HUGE)
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Specialized Databases showing HHLA3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for HHLA3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
TryGeneCards Plus | 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
|
Products
for HHLA3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or
ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory,
genOway)
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 | |
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| | | | |
 |
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|  | Block miRNA regulation of human, mouse, rat HHLA3 using miScript Target Protectors | | SeqTarget long-range PCR primers for resequencing HHLA3 | | | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HHLA3 | | Predesigned siRNA for gene silencing in human, mouse, rat HHLA3 | | | QuantiFast Probe-based Assays in human, mouse, rat HHLA3 | | QuantiTect SYBR Green Assays in human, mouse, rat HHLA3 | | | Custom PCR Arrays for HHLA3 | | Search Chromatin IP Primers for HHLA3 | | | Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HHLA3 | | Search GeneGlobe Interaction Network for HHLA3 | | | Regulatory tfbs in HHLA3 promoter |
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 |  |  |  | |
| | | Search Tocris compounds for HHLA3 |
| | |  |  |  |
 | | | | |
 |
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 |  | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA3 |
| |  |  |  |  | | | Search ThermoFisher Antibodies for HHLA3 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHLA3 |
| | | | LSBio Antibodies in human, mouse, rat for HHLA3 |
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