HHLA1 Gene
protein-coding GIFtS : 43
GCID: GC08 M133074
HERV-H LTR-associating 1 (Previous symbol: PLA2L )
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Aliasesfor HHLA1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases HERV-H LTR-Associating 1 1 2 PLA2L1 2 HERV-H LTR-Associating Protein 12
Export aliases for HHLA1 gene to outside databases Previous GC identifers: GC08M131787 GC08M133108 GC08M132746 GC08M133032 GC08M133145 GC08M128391
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Summariesfor HHLA1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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Genomic Viewsfor HHLA1 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000008.10 NC_018919.1 NT_008046.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HHLA1 gene promoter: Lmo2 Nkx2-5 HNF-3beta Evi-1 POU2F1 POU2F1a FOXO4 POU2F1b POU2F1c RSRFC4 Other transcription factors Search SABiosciences Chromatin IP Primers for HHLA1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HHLA1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 8q24 Ensembl cytogenetic band: 8q24.22 HGNC cytogenetic band: 8q24 HHLA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08M133074: view genomic region
(about GC identifiers )
Start:
133,073,733 bp from pter
End:
133,123,406 bp from pter
Size:
49,674 bases
Orientation:
minus strand
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Proteinsfor HHLA1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: HHLA1_HUMAN, C9JL84 (See
protein sequence )Recommended Name: HERV-H LTR-associating protein 1 precursor Size : 531 amino acids; 58297 Da
Subcellular location : Secreted (Potential)Alternative splicing : 2 isoforms : C9JL84-1 C9JL84-2 (Expressed in teratocarcinoma cell lines)Explore the universe of human proteins at neXtProt for HHLA1: NX_C9JL84 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_C9JL84 HHLA1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_001138567.1 ENSEMBL proteins: ENSP00000407107 ENSP00000388322 Human Recombinant Protein Products for HHLA1: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005576 extracellular region
IEA --
HHLA1 for ontologies About GeneDecksing HHLA1 Antibody Products: Assay Products for HHLA1:
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Protein
Domains / Familiesfor HHLA1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section ProtoNet protein and cluster: C9JL84
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Functionfor HHLA1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 HHLA1 : HERVH LTR-associating 1,linked to OC90 by intergenic splicing Animal Models: Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HHLA1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HHLA1OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HHLA1 (NM_001145095 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HHLA1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HHLA1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA1
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Pathways & Interactionsfor HHLA1 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 HHLA1 STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)1 Interacting protein for HHLA1 (ENSP00000388322 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table
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Drugs & Compoundsfor HHLA1 gene (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 Tocris compounds for HHLA1 Search CenterWatch for drugs/clinical trials and news about HHLA1
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Transcriptsfor HHLA1 gene (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 REFSEQ mRNAs for HHLA1 gene (2 alternative transcripts): NM_005712.1 NM_001145095.1 Unigene Cluster for HHLA1:
HERV-H LTR-associating 1 Hs.285026 [show with all ESTs ] Unigene Representative Sequence: NM_001145095 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000473291 ENST00000434736 ENST00000414222 (uc003yth.2 uc011liy.1 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HHLA1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HHLA1OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HHLA1 (NM_001145095 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HHLA1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HHLA1
Additional cDNA sequence: AK022619.1
2 DOTS entries : DT.92048812 DT.120635422
2 AceView cDNA sequences :
AF110315 NM_005712 GeneLoc Exon Structure
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Expression for HHLA1 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™ ,
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 HHLA1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: ACTATAATCTAbout this image HHLA1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
Stem Cell Differentiation: 2 LifeMap Cells Name Category Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass Matrigel embedded cells (Derivation of cardio... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See HHLA1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HHLA1 SOURCE GeneReport for Unigene cluster: Hs.285026 SABiosciences Custom PCR Arrays for HHLA1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HHLA1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse / rat HHLA1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HHLA1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HHLA1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA1
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Orthologsfor HHLA1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for HHLA1 gene from 3/4 species (see all 4 ) About this table
ENSEMBL Gene Tree for HHLA1 (if available)TreeFam Gene Tree for HHLA1 (if available)
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Paralogsfor HHLA1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor HHLA1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 8 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HHLA1 (133073733 - 133123406 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for HHLA1 3 Indels : 95693 82776 95692
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HHLA1
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Disorders
/ Diseasesfor HHLA1 gene
(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
HHLA1 for disorders About GeneDecksing
OMIM gene information: 604109
OMIM disorders : --3 diseases for HHLA1 : About MalaCards benign paroxysmal positional nystagmus oligohydramnios nystagmus 2 diseases from the University of Copenhagen DISEASES database for HHLA1 :Benign paroxysmal positional nystagmus Oligohydramnios Export disorders for HHLA1 gene to outside databases
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Publicationsfor HHLA1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for HHLA1 gene integrated from 9 sources : (articles sorted by number of sources associating them with HHLA1) Utopia : connect your pdf to the dynamic world of online information
Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes. (PubMed id 10329003) 1 , 2 , 3, 9 Kowalski P.E....Mager D.L. (1999) Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene. (PubMed id 8382789) 1 , 2 Feuchter-Murthy A.E.... Mager D.L. (1993) Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627) 1 Eriksson N....Mountain J. (2010) DNA sequence and analysis of human chromosome 8. (PubMed id 16421571) 2 Nusbaum C....Lander E.S. (2006) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 Ota T.... Sugano S. (2004) A human endogenous retrovirus suppresses translation of an associated fusion transcript, PLA2L. (PubMed id 9621083) 9 Kowalski P.E. and Mager D.L. (1998)
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External Searches for HHLA1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HHLA1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing HHLA1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HHLA1 gene (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
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About This Section Patent Information for HHLA1 gene: Search GeneIP for patents involving HHLA1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HHLA1 gene (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 )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for HHLA1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HHLA1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HHLA1 OriGene Protein Over-expression Lysate for HHLA1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HHLA1 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HHLA1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HHLA1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for HHLA1 OriGene Custom Protein Services for HHLA1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HHLA1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HHLA1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HHLA1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HHLA1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HHLA1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HHLA1
Search Tocris compounds for HHLA1
HHLA1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA1
Search ThermoFisher Antibodies for HHLA1
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HHLA1
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Aliases for HHLA1
Databases for HHLA1
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Expression for HHLA1
Function for HHLA1
Genomic Views for HHLA1
Intellectual Property for HHLA1
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