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Aliases for HEATR5A Gene

Aliases for HEATR5A Gene

  • HEAT Repeat Containing 5A 2 3 5
  • C14orf125 3 4
  • Chromosome 14 Open Reading Frame 125 2
  • HEAT Repeat-Containing Protein 5A 3
  • KIAA1316 4

External Ids for HEATR5A Gene

Previous HGNC Symbols for HEATR5A Gene

  • C14orf125

Previous GeneCards Identifiers for HEATR5A Gene

  • GC14M030833
  • GC14M031760
  • GC14M011878

Summaries for HEATR5A Gene

GeneCards Summary for HEATR5A Gene

HEATR5A (HEAT Repeat Containing 5A) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is HEATR5B.

Additional gene information for HEATR5A 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 HEATR5A Gene

Genomics for HEATR5A Gene

GeneHancer (GH) Regulatory Elements for HEATR5A Gene

Promoters and enhancers for HEATR5A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I031418 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.1 111 3.9 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9 LOC101927124 HEATR5A LOC644295 HECTD1 DTD2 ENSG00000203546
GH14I031414 Promoter/Enhancer 1 EPDnew ENCODE 550.4 +6.3 6274 0.2 ELF3 SAP130 JUN SCRT2 STAT3 FOSL2 EP300 HEATR5A LOC101927124 ENSG00000203546 ATP5MC1P2
GH14I031456 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 -36.6 -36581 2.3 HDGF PKNOX1 CLOCK FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 DTD2 ENSG00000203546 HEATR5A LOC101927124 HECTD1 GC14P031438
GH14I031377 Enhancer 1.1 Ensembl ENCODE 17.4 +42.5 42471 1.3 FOXA2 MLX ARID4B DMAP1 SLC30A9 TCF12 RUNX3 RXRA SP5 NFYC HEATR5A LOC101927124 HECTD1 RNU6-541P NUBPL ENSG00000203546 ATP5MC1P2
GH14I031261 Enhancer 1.5 FANTOM5 Ensembl ENCODE 10 +156.5 156496 5.5 PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ENSG00000203546 HECTD1 RPL21P5 HEATR5A LOC101927124 DTD2 ENSG00000199291 GC14M031259 LOC105370436 NARSP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEATR5A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEATR5A gene promoter:

Genomic Locations for HEATR5A Gene

Genomic Locations for HEATR5A Gene
chr14:31,291,788-31,420,582
(GRCh38/hg38)
Size:
128,795 bases
Orientation:
Minus strand
chr14:31,760,994-31,889,788
(GRCh37/hg19)

Genomic View for HEATR5A Gene

Genes around HEATR5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEATR5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEATR5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEATR5A Gene

Proteins for HEATR5A Gene

  • Protein details for HEATR5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XA9-HTR5A_HUMAN
    Recommended name:
    HEAT repeat-containing protein 5A
    Protein Accession:
    Q86XA9
    Secondary Accessions:
    • Q68DD8
    • Q6P3S5
    • Q6P5R9
    • Q9H8D7
    • Q9NXB7
    • Q9P2N0
    • Q9UFQ3

    Protein attributes for HEATR5A Gene

    Size:
    2040 amino acids
    Molecular mass:
    222004 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91098.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for HEATR5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEATR5A Gene

Post-translational modifications for HEATR5A Gene

No Post-translational modifications

Other Protein References for HEATR5A Gene

No data available for DME Specific Peptides for HEATR5A Gene

Domains & Families for HEATR5A Gene

Gene Families for HEATR5A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for HEATR5A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HEATR5A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86XA9

UniProtKB/Swiss-Prot:

HTR5A_HUMAN :
  • Belongs to the HEATR5 family.
Family:
  • Belongs to the HEATR5 family.
genes like me logo Genes that share domains with HEATR5A: view

Function for HEATR5A Gene

genes like me logo Genes that share phenotypes with HEATR5A: view

Animal Model Products

miRNA for HEATR5A Gene

miRTarBase miRNAs that target HEATR5A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HEATR5A Gene

Localization for HEATR5A 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 HEATR5A gene
Compartment Confidence
plasma membrane 3
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HEATR5A Gene

Pathways & Interactions for HEATR5A Gene

SuperPathways for HEATR5A Gene

No Data Available

Gene Ontology (GO) - Biological Process for HEATR5A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HEATR5A Gene

Drugs & Compounds for HEATR5A Gene

No Compound Related Data Available

Transcripts for HEATR5A Gene

Unigene Clusters for HEATR5A Gene

HEAT repeat containing 5A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEATR5A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b · 28c ^ 29 ^ 30
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for HEATR5A Gene

GeneLoc Exon Structure for
HEATR5A
ECgene alternative splicing isoforms for
HEATR5A

Expression for HEATR5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEATR5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HEATR5A Gene

This gene is overexpressed in Testis (32.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HEATR5A Gene



NURSA nuclear receptor signaling pathways regulating expression of HEATR5A Gene:

HEATR5A

SOURCE GeneReport for Unigene cluster for HEATR5A Gene:

Hs.744979
genes like me logo Genes that share expression patterns with HEATR5A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR5A Gene

Orthologs for HEATR5A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HEATR5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEATR5A 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia HEATR5A 33 34
  • 91.43 (n)
cow
(Bos Taurus)
Mammalia HEATR5A 33 34
  • 90.3 (n)
rat
(Rattus norvegicus)
Mammalia Heatr5a 33
  • 84.74 (n)
mouse
(Mus musculus)
Mammalia Heatr5a 33 16 34
  • 84.24 (n)
oppossum
(Monodelphis domestica)
Mammalia HEATR5A 34
  • 5 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR5A 34
  • 5 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEATR5A 33 34
  • 76.91 (n)
lizard
(Anolis carolinensis)
Reptilia HEATR5A 34
  • 5 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr5a 33
  • 61.88 (n)
zebrafish
(Danio rerio)
Actinopterygii heatr5a 33 34
  • 61.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2747 34
  • 3 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C13F10.4 34
  • 2 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAA1 34
  • 1 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 3 (a)
OneToMany
Species where no ortholog for HEATR5A 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)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for HEATR5A Gene

ENSEMBL:
Gene Tree for HEATR5A (if available)
TreeFam:
Gene Tree for HEATR5A (if available)

Paralogs for HEATR5A Gene

Paralogs for HEATR5A Gene

(1) SIMAP similar genes for HEATR5A Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with HEATR5A: view

Variants for HEATR5A Gene

Sequence variations from dbSNP and Humsavar for HEATR5A Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000004204 -- 31,390,146(-) C/T intron_variant
rs1000010828 -- 31,305,317(-) C/T intron_variant
rs1000034357 -- 31,396,427(-) G/A intron_variant
rs1000045138 -- 31,354,930(-) T/A intron_variant
rs1000071081 -- 31,304,180(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HEATR5A Gene

Variant ID Type Subtype PubMed ID
dgv1064n106 CNV deletion 24896259
esv1624128 CNV deletion 17803354
esv2241940 CNV deletion 18987734
esv2491965 CNV deletion 19546169
esv2664691 CNV deletion 23128226
esv2748558 CNV deletion 23290073
esv2748559 CNV deletion 23290073
esv3181106 CNV deletion 24192839
esv33189 CNV loss 17666407
esv3551323 CNV deletion 23714750
esv3551324 CNV deletion 23714750
nsv983811 CNV duplication 23825009
nsv974471 CNV duplication 23825009
nsv958738 CNV deletion 24416366
nsv84542 CNV deletion 16902084
nsv7250 OTHER inversion 18451855
nsv499776 OTHER inversion 21111241
nsv1148157 CNV deletion 26484159
nsv1138286 CNV deletion 24896259
nsv1138285 CNV deletion 24896259
nsv1134364 CNV deletion 24896259
esv991558 CNV deletion 20482838
esv3633966 CNV loss 21293372
esv3615 CNV loss 18987735

Variation tolerance for HEATR5A Gene

Gene Damage Index Score: 13.40; 95.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEATR5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEATR5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR5A Gene

Disorders for HEATR5A Gene

Additional Disease Information for HEATR5A

No disorders were found for HEATR5A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEATR5A Gene

Publications for HEATR5A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for HEATR5A Gene

Sources for HEATR5A Gene

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