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Aliases for HIGD1A Gene

Aliases for HIGD1A Gene

  • HIG1 Hypoxia Inducible Domain Family Member 1A 2 3 5
  • 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

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

Regulatory Elements for HIGD1A Gene

Promoters for HIGD1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HIGD1A on UCSC Golden Path with GeneCards custom track

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 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

  • Ubiquitination at Lys 19
  • Modification sites at PhosphoSitePlus

Other Protein References for HIGD1A Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HIGD1A

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

Q9Y241

UniProtKB/Swiss-Prot:

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

Animal Model 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
Jensen Localization Image for HIGD1A Gene COMPARTMENTS Subcellular localization image for HIGD1A gene
Compartment Confidence
mitochondrion 4
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:0005743 mitochondrial inner membrane IEA --
GO:0043234 protein complex IDA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with HIGD1A: view

Pathways & Interactions 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:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HIGD1A: view

No data available for Pathways by source and 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:

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

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, MOPED, and MaxQB for HIGD1A Gene



SOURCE GeneReport for Unigene cluster for HIGD1A Gene Hs.593134

genes like me logo Genes that share expression patterns with HIGD1A: view

Protein tissue co-expression partners for HIGD1A Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia HIGD1A 35
  • 89.61 (n)
  • 84.95 (a)
-- 36
  • 83 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
HIGD1D 36
  • 84 (a)
OneToMany
HIGD1D 36
  • 84 (a)
OneToMany
HIGD1D 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HIGD1A 35
  • 89.96 (n)
  • 89.25 (a)
HIGD1A 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Higd1a 35
  • 83.51 (n)
  • 86.02 (a)
Higd1a 16
Gm9790 36
  • 83 (a)
OneToMany
Higd1a 36
  • 84 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia HIGD1A 35
  • 99.07 (n)
  • 99.07 (a)
-- 36
  • 99 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Higd1a 35
  • 82.08 (n)
  • 84.95 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HIGD1A 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIGD1A 35
  • 66.3 (n)
  • 68.48 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 75 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia higd1a 35
  • 69.23 (n)
  • 74.73 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
hig1 35
  • 65.81 (n)
  • 74.36 (a)
hig1 36
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9500 35
fruit fly
(Drosophila melanogaster)
Insecta CG11825 36
  • 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

(4) 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
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
rs5026995 -- 42,787,596(+) AAAAA(A/T)ATATA intron-variant

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

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

HapMap Linkage Disequilibrium report
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. 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 67
  2. 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
  3. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein J.I. … Sullivan P.F. (Nat Commun 2014) 3
  4. Nuclear localization of the mitochondrial factor HIGD1A during metabolic stress. (PMID: 23646141) Ameri K. … Maltepe E. (PLoS ONE 2013) 3
  5. Higd-1a interacts with Opa1 and is required for the morphological and functional integrity of mitochondria. (PMID: 23878241) An H.J. … Lee H. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3

Products for HIGD1A Gene

Sources for HIGD1A Gene

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