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Aliases for HHLA3 Gene

Aliases for HHLA3 Gene

  • HERV-H LTR-Associating 3 2 3 5
  • Human Endogenous Retrovirus-H Long Terminal Repeat-Associating Protein 3 4

External Ids for HHLA3 Gene

Previous GeneCards Identifiers for HHLA3 Gene

  • GC01P070944
  • GC01P069743
  • GC01P070205
  • GC01P070190
  • GC01P070532
  • GC01P070820
  • GC01P068931

Summaries for HHLA3 Gene

GeneCards Summary for HHLA3 Gene

HHLA3 (HERV-H LTR-Associating 3) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHLA3 Gene

Genomics for HHLA3 Gene

Regulatory Elements for HHLA3 Gene

Enhancers for HHLA3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HHLA3 on UCSC Golden Path with GeneCards custom track

Promoters for HHLA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HHLA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for HHLA3 Gene

Chromosome:
1
Start:
70,354,797 bp from pter
End:
70,385,339 bp from pter
Size:
30,543 bases
Orientation:
Plus strand

Genomic View for HHLA3 Gene

Genes around HHLA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHLA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHLA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHLA3 Gene

Proteins for HHLA3 Gene

  • Protein details for HHLA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9XRX5-HHLA3_HUMAN
    Recommended name:
    HERV-H LTR-associating protein 3
    Protein Accession:
    Q9XRX5
    Secondary Accessions:
    • D3DQ74
    • Q5VZP2
    • Q96FH5
    • Q9XRX4

    Protein attributes for HHLA3 Gene

    Size:
    114 amino acids
    Molecular mass:
    12913 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD33288.1; Type=Frameshift; Positions=72; Evidence={ECO:0000305};

    Alternative splice isoforms for HHLA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HHLA3 Gene

Proteomics data for HHLA3 Gene at MOPED

Post-translational modifications for HHLA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HHLA3 Gene

Domains & Families for HHLA3 Gene

Protein Domains for HHLA3 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for HHLA3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HHLA3: view

No data available for Gene Families and UniProtKB/Swiss-Prot for HHLA3 Gene

Function for HHLA3 Gene

genes like me logo Genes that share phenotypes with HHLA3: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HHLA3 Gene

Localization for HHLA3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HHLA3 Gene COMPARTMENTS Subcellular localization image for HHLA3 gene
Compartment Confidence
nucleus 3
extracellular 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HHLA3 Gene

Pathways & Interactions for HHLA3 Gene

SuperPathways for HHLA3 Gene

No Data Available

Interacting Proteins for HHLA3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000359978%0d%0a9606.ENSP00000243346%0d%0a
Selected Interacting proteins: Q9XRX5-HHLA3_HUMAN ENSP00000359978 for HHLA3 Gene via UniProtKB I2D STRING

Gene Ontology (GO) - Biological Process for HHLA3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HHLA3 Gene

Drugs & Compounds for HHLA3 Gene

No Compound Related Data Available

Transcripts for HHLA3 Gene

Unigene Clusters for HHLA3 Gene

HERV-H LTR-associating 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HHLA3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: - - - -
SP7:

Relevant External Links for HHLA3 Gene

GeneLoc Exon Structure for
HHLA3
ECgene alternative splicing isoforms for
HHLA3

Expression for HHLA3 Gene

mRNA expression in normal human tissues for HHLA3 Gene

Protein differential expression in normal tissues from HIPED for HHLA3 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HHLA3 Gene



SOURCE GeneReport for Unigene cluster for HHLA3 Gene Hs.142245

mRNA Expression by UniProt/SwissProt for HHLA3 Gene

Q9XRX5-HHLA3_HUMAN
Tissue specificity: Expressed in kidney and liver.
genes like me logo Genes that share expression patterns with HHLA3: view

Protein tissue co-expression partners for HHLA3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HHLA3 Gene

Orthologs for HHLA3 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for HHLA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HHLA3 36
  • 97 (a)
OneToOne
Species with no ortholog for HHLA3:
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • 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)
  • zebrafish (Danio rerio)

Evolution for HHLA3 Gene

ENSEMBL:
Gene Tree for HHLA3 (if available)
TreeFam:
Gene Tree for HHLA3 (if available)

Paralogs for HHLA3 Gene

No data available for Paralogs for HHLA3 Gene

Variants for HHLA3 Gene

Sequence variations from dbSNP and Humsavar for HHLA3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs4233082 -- 70,364,966(+) accag(C/T)acttt intron-variant
rs4650042 -- 70,364,872(+) TTGAG(A/G)TATtg intron-variant
rs6661178 -- 70,366,370(+) TATAT(A/G)TATTT intron-variant
rs9787313 -- 70,365,382(+) ctcac(A/G)tctgt intron-variant
rs7539544 -- 70,366,158(+) ctttt(C/T)gccga intron-variant, nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for HHLA3 Gene

Variant ID Type Subtype PubMed ID
nsv830137 CNV Loss 17160897
esv27106 CNV Loss 19812545

Variation tolerance for HHLA3 Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HHLA3 Gene

HapMap Linkage Disequilibrium report
HHLA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHLA3 Gene

Disorders for HHLA3 Gene

Relevant External Links for HHLA3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHLA3

No disorders were found for HHLA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HHLA3 Gene

Publications for HHLA3 Gene

  1. Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3). (PMID: 10444326) Mager D.L. … Freeman J.D. (Genomics 1999) 2 3 4 23 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3
  5. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3

Products for HHLA3 Gene

Sources for HHLA3 Gene

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