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Aliases for HIGD1A Gene

Aliases for HIGD1A Gene

  • HIG1 Hypoxia Inducible Domain Family, Member 1A 2 3
  • 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 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. An important paralog of this gene is HIGD1B.

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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIGD1A Gene

Genomics for HIGD1A Gene

Genomic Location for HIGD1A Gene

Start:
42,757,177 bp from pter
End:
42,804,535 bp from pter
Size:
47,359 bases
Orientation:
Minus strand

Genomic View for HIGD1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HIGD1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIGD1A Gene

Regulatory Elements 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 respratory 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

Proteomics data for HIGD1A Gene at MOPED

Post-translational modifications for HIGD1A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys19

Other Protein References for HIGD1A Gene

No data available for DME Specific Peptides for HIGD1A Gene

Domains for HIGD1A Gene

Protein Domains for HIGD1A Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

HIG1A_HUMAN
Domain:
  • Contains 1 HIG1 domain.:
    • Q9Y241
genes like me logo Genes that share domains with HIGD1A: view

No data available for Gene Families 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.

Phenotypes for HIGD1A Gene

GenomeRNAi human phenotypes for HIGD1A:
genes like me logo Genes that share phenotypes with HIGD1A: view

miRNA for HIGD1A Gene

miRTarBase miRNAs that target HIGD1A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for HIGD1A Gene COMPARTMENTS Subcellular localization image for HIGD1A gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HIGD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0043234 protein complex IDA --
genes like me logo Genes that share ontologies with HIGD1A: view

Pathways for HIGD1A Gene

SuperPathways for HIGD1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for HIGD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042149 cellular response to glucose starvation --
GO:0043066 negative regulation of apoptotic process IDA 21856340
GO:0055114 oxidation-reduction process IEA --
GO:0071456 cellular response to hypoxia --
GO:0090201 negative regulation of release of cytochrome c from mitochondria --
genes like me logo Genes that share ontologies with HIGD1A: view

No data available for Pathways by source for HIGD1A Gene

Transcripts for HIGD1A Gene

Unigene Clusters for HIGD1A Gene

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

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 for HIGD1A Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HIGD1A Gene

SOURCE GeneReport for Unigene cluster for HIGD1A Gene Hs.593134

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

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 -- 37
  • 99 (a)
OneToMany
-- 37
  • 99 (a)
OneToMany
HIGD1A 36
  • 99.07 (n)
  • 99.07 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 83 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
HIGD1A 36
  • 89.61 (n)
  • 84.95 (a)
HIGD1D 37
  • 84 (a)
OneToMany
HIGD1D 37
  • 84 (a)
OneToMany
HIGD1D 37
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HIGD1A 36
  • 89.96 (n)
  • 89.25 (a)
HIGD1A 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm9790 37
  • 83 (a)
OneToMany
Higd1a 36
  • 83.51 (n)
  • 86.02 (a)
Higd1a 16
Higd1a 37
  • 84 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 83 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HIGD1A 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Higd1a 36
  • 82.08 (n)
  • 84.95 (a)
chicken
(Gallus gallus)
Aves HIGD1A 36
  • 66.3 (n)
  • 68.48 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 75 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia higd1a 36
  • 69.23 (n)
  • 74.73 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9500 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
hig1 36
  • 65.81 (n)
  • 74.36 (a)
hig1 37
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11825 37
  • 31 (a)
OneToMany
Species with no ortholog for HIGD1A:
  • 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

Paralogs for HIGD1A Gene

Selected SIMAP similar genes for HIGD1A Gene using alignment to 3 proteins:

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

Variants for HIGD1A Gene

Sequence variations from dbSNP and Humsavar for HIGD1A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs6865 -- 42,784,549(+) CGTGT(G/T)CATTT utr-variant-3-prime
rs1127544 -- 42,784,495(-) ACATT(C/G)AACTA utr-variant-3-prime
rs4399859 -- 42,790,918(+) GTGAC(G/T)CTCCT intron-variant
rs4404423 -- 42,786,619(+) GGATA(C/T)TGTAC intron-variant
rs4682855 -- 42,784,676(+) CTTAA(A/G)TTATT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv236207 CNV Loss 16902084
esv1004289 CNV Deletion 20482838
nsv435763 CNV Deletion 17901297
nsv513043 CNV Loss 21212237
esv2725200 CNV Deletion 23290073
esv4812 CNV Deletion 18987735
esv1232041 CNV Deletion 17803354
esv6998 CNV Loss 19470904

Relevant External Links for HIGD1A Gene

HapMap Linkage Disequilibrium report
HIGD1A

Disorders for HIGD1A Gene

(1) MalaCards Diseases for HIGD1A Gene

Search for HIGD1A Gene in MalaCards »

Relevant External Links for HIGD1A

Genetic Association Database (GAD)
HIGD1A
Human Genome Epidemiology (HuGE) Navigator
HIGD1A
genes like me logo Genes that share disorders with HIGD1A: view

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

Publications for HIGD1A Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4
  2. 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) 2 3 4
  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
  4. Epigenetic regulation of gene expression in cervical cancer cells by the tumor microenvironment. (PMID: 10690527) Denko N.C. … Giaccia A.J. (Clin. Cancer Res. 2000) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49

Products for HIGD1A Gene

  • antibodies-online peptides for HIGD1A
  • antibodies-online antibodies for HIGD1A
  • antibodies-online kits for HIGD1A

Sources for HIGD1A Gene

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