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Aliases for HIGD1A Gene

Aliases for HIGD1A Gene

  • HIG1 Hypoxia Inducible Domain Family Member 1A 2 3 5
  • Hypoxia-Inducible Gene 1 Protein 3 4
  • HIG1 Domain Family, Member 1A 2 3
  • Hypoxia Inducible Gene 1 2 3
  • RCF1 Homolog A 3 4
  • RCF1a 3 4
  • HIG1 3 4
  • HIG1 Hypoxia Inducible Domain Family, Member 1A 2
  • HIG1 Domain Family Member 1A, Mitochondrial 3

External Ids for HIGD1A Gene

Summaries for HIGD1A Gene

GeneCards Summary for HIGD1A Gene

HIGD1A (HIG1 Hypoxia Inducible Domain Family Member 1A) is a Protein Coding gene. Diseases associated with HIGD1A include Hypoxia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cellular Senescence. An important paralog of this gene is ENSG00000280571.

UniProtKB/Swiss-Prot for HIGD1A Gene

  • Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes.

Gene Wiki entry for HIGD1A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIGD1A Gene

Genomics for HIGD1A Gene

Regulatory Elements for HIGD1A Gene

Enhancers for HIGD1A 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
GH03G042778 1.3 Ensembl ENCODE 20.5 +25.3 25349 1.8 PKNOX1 ARNT FEZF1 ZNF2 YY1 ZNF121 GLIS2 ZNF302 FOS KLF7 HIGD1A CCDC13-AS1 ACKR2 KRBOX1 CCDC13 GC03P042799
GH03G042880 1.6 FANTOM5 Ensembl ENCODE 15 -76.5 -76505 1.3 PKNOX1 ATF1 AGO1 ARID4B DMAP1 ZNF2 ZNF48 YY1 ETS1 GLIS2 HIGD1A ENSG00000235288 ACKR2 ZNF662 CCDC13 LINC02158 KRBOX1 CYP8B1 POMGNT2 HNRNPA1P22
GH03G042759 1.6 Ensembl ENCODE dbSUPER 9.5 +42.9 42913 3.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 CCDC13-AS1 KRBOX1 SEC22C POMGNT2 HIGD1A LINC02158
GH03G042810 1.5 Ensembl ENCODE dbSUPER 9.2 -7.1 -7117 2.1 PKNOX1 FOXA2 MLX ARID4B YY1 TCF12 CAVIN1 SP5 PPARG KAT8 HIGD1A CCDC13-AS1 ACKR2 KRBOX1 ENSG00000235288
GH03G042772 1 ENCODE 9.5 +31.4 31385 1.4 FOXA2 ATF1 PKNOX1 SIN3A FEZF1 YY1 TCF12 GATA2 ZNF143 ZNF207 CCDC13-AS1 HIGD1A LINC02158 CCDC13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HIGD1A on UCSC Golden Path with GeneCards custom track

Promoters for HIGD1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000151413 335 2001 HDGF PKNOX1 MLX ARNT AGO1 ZFP64 SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for HIGD1A Gene

Chromosome:
3
Start:
42,782,908 bp from pter
End:
42,804,535 bp from pter
Size:
21,628 bases
Orientation:
Minus strand

Genomic View for HIGD1A Gene

Genes around HIGD1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIGD1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIGD1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIGD1A Gene

Proteins for HIGD1A Gene

  • Protein details for HIGD1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y241-HIG1A_HUMAN
    Recommended name:
    HIG1 domain family member 1A, mitochondrial
    Protein Accession:
    Q9Y241
    Secondary Accessions:
    • Q9UFZ2

    Protein attributes for HIGD1A Gene

    Size:
    93 amino acids
    Molecular mass:
    10143 Da
    Quaternary structure:
    • Associates with cytochrome c oxidase (COX, complex IV); proposed complex component. Also associates with respiratory chain supercomplexes.
    SequenceCaution:
    • Sequence=BG400624; Type=Frameshift; Positions=32; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIGD1A Gene

    Alternative splice isoforms for HIGD1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIGD1A Gene

Post-translational modifications for HIGD1A Gene

  • Ubiquitination at isoforms=219
  • Modification sites at PhosphoSitePlus

Other Protein References for HIGD1A Gene

No data available for DME Specific Peptides for HIGD1A Gene

Domains & Families for HIGD1A Gene

Protein Domains for HIGD1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HIGD1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HIGD1A: view

No data available for Gene Families and UniProtKB/Swiss-Prot for HIGD1A Gene

Function for HIGD1A Gene

Molecular function for HIGD1A Gene

UniProtKB/Swiss-Prot Function:
Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes.
UniProtKB/Swiss-Prot Induction:
By hypoxia.
genes like me logo Genes that share phenotypes with HIGD1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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 HIGD1A Gene

Localization for HIGD1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIGD1A Gene

Mitochondrion membrane; Multi-pass membrane protein. Mitochondrion inner membrane.

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 HIGD1A gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HIGD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HIGD1A: view

Pathways & Interactions for HIGD1A Gene

genes like me logo Genes that share pathways with HIGD1A: view

Gene Ontology (GO) - Biological Process for HIGD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043066 negative regulation of apoptotic process IDA 21856340
GO:0055114 oxidation-reduction process IEA --
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS --
genes like me logo Genes that share ontologies with HIGD1A: view

No data available for SIGNOR curated interactions for HIGD1A Gene

Drugs & Compounds for HIGD1A Gene

No Compound Related Data Available

Transcripts for HIGD1A Gene

Unigene Clusters for HIGD1A Gene

HIG1 hypoxia inducible domain family, member 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIGD1A Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - - - - -
SP5: - - - -
SP6: - -

Relevant External Links for HIGD1A Gene

GeneLoc Exon Structure for
HIGD1A
ECgene alternative splicing isoforms for
HIGD1A

Expression for HIGD1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIGD1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HIGD1A Gene

This gene is overexpressed in Bone (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIGD1A Gene



Protein tissue co-expression partners for HIGD1A Gene

NURSA nuclear receptor signaling pathways regulating expression of HIGD1A Gene:

HIGD1A

SOURCE GeneReport for Unigene cluster for HIGD1A Gene:

Hs.593134

Evidence on tissue expression from TISSUES for HIGD1A Gene

  • Nervous system(5)
  • Lung(4.8)
  • Skin(4.7)
  • Kidney(4.4)
  • Blood(4.2)
  • Bone marrow(4.1)
  • Muscle(3.9)
  • Intestine(3.3)
  • Liver(2.9)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with HIGD1A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIGD1A Gene

Orthologs for HIGD1A Gene

This gene was present in the common ancestor of animals.

Orthologs for HIGD1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIGD1A 34
  • 99.07 (n)
-- 35
  • 99 (a)
OneToMany
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HIGD1A 34 35
  • 89.96 (n)
cow
(Bos Taurus)
Mammalia HIGD1A 34
  • 89.61 (n)
HIGD1D 35 35 35
  • 84 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Higd1a 34 16 35
  • 83.51 (n)
Gm9790 35
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Higd1a 34
  • 82.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HIGD1A 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIGD1A 34
  • 66.3 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia higd1a 34
  • 69.23 (n)
zebrafish
(Danio rerio)
Actinopterygii hig1 34 35
  • 65.81 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9500 34
fruit fly
(Drosophila melanogaster)
Insecta CG11825 35
  • 31 (a)
OneToMany
Species where no ortholog for HIGD1A 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HIGD1A Gene

ENSEMBL:
Gene Tree for HIGD1A (if available)
TreeFam:
Gene Tree for HIGD1A (if available)

Paralogs for HIGD1A Gene

Variants for HIGD1A Gene

Sequence variations from dbSNP and Humsavar for HIGD1A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000351039 -- 42,802,007(+) CCGGG(G/T)CAACA intron-variant
rs1000407274 -- 42,803,636(+) CTTCC(A/G)GAAGC intron-variant
rs1000608613 -- 42,786,089(+) TGAAT(A/G)GACAT reference, synonymous-codon
rs1000960089 -- 42,803,953(+) CCTTC(C/T)TCGCC intron-variant
rs1001175236 -- 42,795,787(+) TTTCA(A/G)TCATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HIGD1A Gene

Variant ID Type Subtype PubMed ID
dgv2514n106 CNV deletion 24896259
esv1004289 CNV deletion 20482838
esv1232041 CNV deletion 17803354
esv2725200 CNV deletion 23290073
esv2837013 CNV deletion 24192839
esv3561797 CNV deletion 23714750
esv4812 CNV loss 18987735
esv6998 CNV loss 19470904
nsv1072683 CNV deletion 25765185
nsv1129057 CNV deletion 24896259
nsv1139109 CNV deletion 24896259
nsv1146148 CNV deletion 26484159
nsv236207 CNV deletion 16902084
nsv435763 CNV deletion 17901297
nsv513043 CNV loss 21212237
nsv955515 CNV deletion 24416366
nsv979823 CNV duplication 23825009

Variation tolerance for HIGD1A Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIGD1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIGD1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIGD1A Gene

Disorders for HIGD1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for HIGD1A Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypoxia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HIGD1A

Genetic Association Database (GAD)
HIGD1A
Human Genome Epidemiology (HuGE) Navigator
HIGD1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIGD1A
genes like me logo Genes that share disorders with HIGD1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIGD1A Gene

Publications for HIGD1A Gene

  1. Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex. (PMID: 22342701) Vukotic M. … Deckers M. (Cell Metab. 2012) 2 3 4 64
  2. Higd1a is a positive regulator of cytochrome c oxidase. (PMID: 25605899) Hayashi T. … Takashima S. (Proc. Natl. Acad. Sci. U.S.A. 2015) 2 3 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. 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
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64

Products for HIGD1A Gene

Sources for HIGD1A Gene

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