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HHLA1 Gene(Protein Coding)

HERV-H LTR-Associating 1

GCID:
GC08M132061
GIFtS:
41
Genes Participants
UDN Logo

Aliases for HHLA1 Gene

Aliases for HHLA1 Gene

  • HERV-H LTR-Associating 1 2 3 5
  • HERV-H LTR-Associating Protein 1 3
  • PLA2L 3

External Ids for HHLA1 Gene

Previous HGNC Symbols for HHLA1 Gene

  • PLA2L

Previous GeneCards Identifiers for HHLA1 Gene

  • GC08M131787
  • GC08M133108
  • GC08M132746
  • GC08M133032
  • GC08M133145
  • GC08M128391
  • GC08M133074

Summaries for HHLA1 Gene

GeneCards Summary for HHLA1 Gene

HHLA1 (HERV-H LTR-Associating 1) is a Protein Coding gene.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHLA1 Gene

Genomics for HHLA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for HHLA1 Gene

Enhancers for HHLA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G131855 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.8 +253.7 253689 3.0 SIN3A RFX5 GATA2 RCOR1 FOS CREM SMARCC1 USF2 JUNB CEBPB EFR3A HHLA1 GC08M131865 LOC100420215
GH08G132262 0.4 FANTOM5 7.8 -151.5 -151488 0.0 NR2F1 KCNQ3 HHLA1 GC08P132227 GC08M132265
GH08G132549 0.5 FANTOM5 6.1 -438.8 -438797 0.3 GATA3 ZNF512 HHLA1 KCNQ3 HPYR1 LOC105375765
GH08G131645 0.3 FANTOM5 9.7 +465.1 465086 0.3 HHLA1 LOC100420215 LOC105375763
GH08G131901 0.3 FANTOM5 6.5 +209.7 209720 0.0 HHLA1 GC08M131865 LOC100420215
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HHLA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HHLA1 gene promoter:

Genomic Location for HHLA1 Gene

Chromosome:
8
Start:
132,061,486 bp from pter
End:
132,111,159 bp from pter
Size:
49,674 bases
Orientation:
Minus strand

Genomic View for HHLA1 Gene

Genes around HHLA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHLA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHLA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HHLA1 Gene

Proteins for HHLA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HHLA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    C9JL84-HHLA1_HUMAN
    Recommended name:
    HERV-H LTR-associating protein 1
    Protein Accession:
    C9JL84

    Protein attributes for HHLA1 Gene

    Size:
    531 amino acids
    Molecular mass:
    58297 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HHLA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HHLA1 Gene

Protein Expression for HHLA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HHLA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HHLA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HHLA1 Gene

Domains & Families for HHLA1 Gene

Protein Domains for HHLA1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for HHLA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HHLA1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for HHLA1 Gene

Function for HHLA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HHLA1 Gene

GENATLAS Biochemistry:
HERVH LTR-associating 1,linked to OC90 by intergenic splicing

Phenotypes for HHLA1 Gene

GenomeRNAi human phenotypes for HHLA1:
genes like me logo Genes that share phenotypes with HHLA1: view

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HHLA1 Gene

Localization for HHLA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHLA1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HHLA1 gene
Compartment Confidence
extracellular 4
plasma membrane 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HHLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with HHLA1: view

Pathways & Interactions for HHLA1 Gene

SuperPathways for HHLA1 Gene

PathCards logo More details on SuperPathways for HHLA1
No Data Available

Interacting Proteins for HHLA1 Gene

Selected Interacting proteins: C9JL84-HHLA1_HUMAN for HHLA1 Gene via IID

Gene Ontology (GO) - Biological Process for HHLA1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HHLA1 Gene

Drugs & Compounds for HHLA1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HHLA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HHLA1 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HHLA1 Gene

HERV-H LTR-associating 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HHLA1 Gene

No ASD Table

Relevant External Links for HHLA1 Gene

GeneLoc Exon Structure for
HHLA1
ECgene alternative splicing isoforms for
HHLA1

Expression for HHLA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HHLA1 Gene

mRNA expression in normal human tissues for HHLA1 Gene
mRNA expression by BioGPS for HHLA1 GenemRNA expression by GTEx for HHLA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HHLA1 Gene

This gene is overexpressed in Testis (x8.5), Brain - Hypothalamus (x6.9), Brain - Cortex (x6.4), Brain - Substantia nigra (x5.6), Brain - Frontal Cortex (BA9) (x4.9), and Brain - Amygdala (x4.0).

Protein differential expression in normal tissues from HIPED for HHLA1 Gene

This gene is overexpressed in Serum (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HHLA1 Gene



Protein tissue co-expression partners for HHLA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HHLA1 Gene:

HHLA1

SOURCE GeneReport for Unigene cluster for HHLA1 Gene:

Hs.285026
genes like me logo Genes that share expression patterns with HHLA1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HHLA1 Gene

Orthologs for HHLA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HHLA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HHLA1 34
  • 98.93 (n)
cow
(Bos Taurus)
 Mammalia HHLA1 34 35
  • 78.66 (n)
mouse
(Mus musculus)
 Mammalia Hhla1 34 16 35
  • 72.78 (n)
dog
(Canis familiaris)
 Mammalia HHLA1 35
  • 67 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 58 (a)
 OneToMany
-- 35
  • 35 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves HHLA1 34 35
  • 66.48 (n)
lizard
(Anolis carolinensis)
 Reptilia HHLA1 35
  • 40 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii HHLA1 35
  • 64 (a)
 OneToOne
Species where no ortholog for HHLA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HHLA1 Gene

ENSEMBL:
Gene Tree for HHLA1 (if available)
TreeFam:
Gene Tree for HHLA1 (if available)

Paralogs for HHLA1 Gene

No data available for Paralogs for HHLA1 Gene

Variants for HHLA1 Gene

Sequence variations from dbSNP and Humsavar for HHLA1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000051071 -- 132,100,267(+) AAAGG(A/C)AGATC intron-variant
rs1000080494 -- 132,100,038(+) GCAAC(C/T)CAGAC intron-variant
rs1000086107 -- 132,075,761(+) TACTT(A/C)CAAAC intron-variant
rs1000123705 -- 132,062,567(+) AGGCA(C/T)ATCAG utr-variant-3-prime
rs1000155567 -- 132,088,934(+) TCTCC(C/T)TCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HHLA1 Gene

Variant ID Type Subtype PubMed ID
esv3618853 CNV gain 21293372
esv3618868 CNV loss 21293372
esv3618869 CNV loss 21293372
nsv1018172 CNV gain 25217958
nsv1143415 CNV deletion 24896259
nsv507494 OTHER sequence alteration 20534489
nsv612325 CNV gain 21841781
nsv6401 CNV insertion 18451855
nsv949985 CNV deletion 24416366

Variation tolerance for HHLA1 Gene

Gene Damage Index Score: 5.01; 68.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HHLA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HHLA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHLA1 Gene

Disorders for HHLA1 Gene

Relevant External Links for HHLA1

Genetic Association Database (GAD)
HHLA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHLA1

No disorders were found for HHLA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HHLA1 Gene

Publications for HHLA1 Gene

  1. Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes. (PMID: 10329003) Kowalski P.E. … Mager D.L. (Genomics 1999) 2 3 4 22 64
  2. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N. … Mountain J. (PLoS Genet. 2010) 3 46 64
  3. Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene. (PMID: 8382789) Feuchter-Murthy A.E. … Mager D.L. (Nucleic Acids Res. 1993) 3 4 64
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64

Products for HHLA1 Gene

Sources for HHLA1 Gene

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