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Aliases for HHLA1 Gene

Aliases for HHLA1 Gene

  • HERV-H LTR-Associating 1 2 3
  • 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. Diseases associated with HHLA1 include benign paroxysmal positional nystagmus and oligohydramnios.

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 HHLA1 Gene

Genomics for HHLA1 Gene

Regulatory Elements for HHLA1 Gene

Genomic Location for HHLA1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HHLA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHLA1 Gene

Proteins for HHLA1 Gene

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

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

    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

Proteomics data for HHLA1 Gene at MOPED

Post-translational modifications for HHLA1 Gene

  • Glycosylation at Asn79, Asn143, and Asn161
  • Modification sites at PhosphoSitePlus

Other Protein References for HHLA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HHLA1 Gene

Domains 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

Molecular function for HHLA1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HHLA1 Gene

Localization for HHLA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHLA1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HHLA1 Gene COMPARTMENTS Subcellular localization image for HHLA1 gene
Compartment Confidence
extracellular 3
lysosome 1
mitochondrion 1
plasma membrane 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 for HHLA1 Gene

SuperPathways for HHLA1 Gene

No Data Available

Interacting Proteins for HHLA1 Gene

Gene Ontology (GO) - Biological Process for HHLA1 Gene

None

No data available for Pathways by source for HHLA1 Gene

Transcripts for HHLA1 Gene

mRNA/cDNA for HHLA1 Gene

(1) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(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:

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

mRNA expression in normal human tissues 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 (8.5), Brain - Hypothalamus (6.9), Brain - Cortex (6.4), Brain - Substantia nigra (5.6), Brain - Frontal Cortex (BA9) (4.9), and Brain - Amygdala (4.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HHLA1 Gene

SOURCE GeneReport for Unigene cluster for HHLA1 Gene Hs.285026

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

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 98.93 (n)
  • 97.93 (a)
cow
(Bos Taurus)
Mammalia HHLA1 35
  • 78.66 (n)
  • 71.59 (a)
HHLA1 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HHLA1 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hhla1 35
  • 72.78 (n)
  • 61.62 (a)
Hhla1 16
Hhla1 36
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 35 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves HHLA1 35
  • 66.48 (n)
  • 62.39 (a)
HHLA1 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HHLA1 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii HHLA1 36
  • 64 (a)
OneToOne
Species with no ortholog for HHLA1:
  • 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 MAF
rs715257 -- 132,102,752(-) ATTCT(A/G)GCTGG intron-variant
rs715258 -- 132,102,593(-) TCTTA(C/T)AGCAG intron-variant
rs891764 -- 132,090,404(+) TTCTA(A/G)AGAGG intron-variant
rs893388 -- 132,090,952(-) GAAAC(C/T)CTGTC intron-variant
rs893389 -- 132,090,451(-) CATTT(A/C)CACAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv891453 CNV Gain 21882294
nsv6401 CNV Insertion 18451855
nsv507494 CNV Insertion 20534489

Relevant External Links for HHLA1 Gene

HapMap Linkage Disequilibrium report
HHLA1

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

Disorders for HHLA1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for HHLA1 Gene including...

Search for HHLA1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for HHLA1 Gene

Relevant External Links for HHLA1

Genetic Association Database (GAD)
HHLA1
genes like me logo Genes that share disorders with HHLA1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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
  3. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N. … Mountain J. (PLoS Genet. 2010) 3 48
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for HHLA1 Gene

  • antibodies-online peptides for HHLA1
  • antibodies-online antibodies for HHLA1
  • antibodies-online kits for HHLA1

Sources for HHLA1 Gene

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