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HHLA3 Gene(Protein Coding)

HERV-H LTR-Associating 3

GCID:
GC01P070354
GIFtS:
41
Genes Participants
UDN Logo

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 , CIViC 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

Products:

  1. Regulatory Element

Regulatory Elements for HHLA3 Gene

Enhancers for HHLA3 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
GH01G070409 1.4 FANTOM5 ENCODE 21.1 +56.4 56436 3.5 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 SRSF11 HHLA3 CTH ENSG00000278636
GH01G070352 1.2 ENCODE 20.2 -0.6 -609 3.6 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 HHLA3 ANKRD13C LRRC40 GC01M070275
GH01G070319 0.5 ENCODE 10.8 -34.7 -34691 2.0 JUND CEBPG ZBTB33 HHLA3 GC01M070275 ANKRD13C
GH01G070460 0.8 ENCODE 4.2 +106.5 106450 0.8 BCOR HDAC1 LEF1 TAL1 RELA TCF12 NCOR1 TRIM24 HES1 SMARCE1 HHLA3 LOC105378793 GC01M070473
GH01G070284 0.4 ENCODE 6.2 -70.2 -70153 1.1 ZNF121 HHLA3 GC01M070275 GC01P070230
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000008419 -597 2801 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766

Transcription factor binding sites by QIAGEN in the HHLA3 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for HHLA3 Gene

Proteins for HHLA3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HHLA3 Gene

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

Post-translational modifications for HHLA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HHLA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

GenScript: Design optimal peptide antigens:

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

Products:

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

Gene Ontology (GO) - Molecular Function for HHLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with HHLA3: view
genes like me logo Genes that share phenotypes with HHLA3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for HHLA3 Gene

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 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

PathCards logo More details on SuperPathways for HHLA3
No Data Available

Interacting Proteins for HHLA3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/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 IID UniProtKB 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HHLA3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HHLA3 Gene

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

Unigene Clusters for HHLA3 Gene

HERV-H LTR-associating 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HHLA3 Gene

mRNA expression in normal human tissues for HHLA3 Gene
mRNA expression by BioGPS for HHLA3 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for HHLA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HHLA3 Gene:

HHLA3

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35
  • 97 (a)
 OneToOne
Species where no ortholog for HHLA3 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)
  • 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
rs1000030676 -- 70,365,032(+) CACAG(G/T)GAAAC intron-variant
rs1000208440 -- 70,353,957(+) AGGTG(A/G)AGAGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000226569 -- 70,354,228(+) CTGTA(C/G)CCGGT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1000288398 -- 70,353,860(+) GAACG(A/G)CCCGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000536887 -- 70,357,474(+) ATAGA(A/G)CAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv27106 CNV loss 19812545
esv3586353 CNV loss 21293372
nsv1012563 CNV gain 25217958
nsv830137 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. 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 64

Products for HHLA3 Gene

Sources for HHLA3 Gene

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