Aliases for HIGD1A Gene
Aliases for HIGD1A Gene
External Ids for HIGD1A Gene
- HGNC: 29527
- Entrez Gene: 25994
- Ensembl: ENSG00000181061
- UniProtKB: Q9Y241
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.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIGD1A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HIGD1A gene promoter:
Regulatory Element Products
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:
-
- 3p22.1 by Ensembl
- 3p22.1 by Entrez Gene
- 3p22.1 by HGNC
HIGD1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for HIGD1A Gene
Post-translational modifications for HIGD1A Gene
Other Protein References for HIGD1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HIGD1A
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- antibodies-online Antibodies for HIGD1A: See all 11
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- GeneTex HIGD1A antibody for HIGD1A
-
Custom Antibody ServicesProSci Antibodies for HIGD1A
Protein Products
-
OriGene Purified Proteins for HIGD1A
- Search Origene for MassSpec and Protein Over-expression Lysates for HIGD1A
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- Search GeneTex for Proteins for HIGD1A
Assay Products
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
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.
Phenotypes for HIGD1A Gene
- GenomeRNAi human phenotypes for HIGD1A:
Animal Model Products
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-
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CRISPR Products
-
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-
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miRNA for HIGD1A Gene
- miRTarBase miRNAs that target HIGD1A
-
- hsa-mir-1-3p (MIRT023908)
- hsa-mir-16-5p (MIRT031840)
- hsa-mir-1301-3p (MIRT036058)
- hsa-mir-450b-5p (MIRT547957)
- hsa-mir-106a-3p (MIRT547958)
- hsa-mir-4291 (MIRT547959)
- hsa-mir-761 (MIRT547960)
- hsa-mir-3619-5p (MIRT547961)
- hsa-mir-922 (MIRT547962)
- hsa-mir-214-3p (MIRT547963)
- hsa-mir-545-3p (MIRT547964)
- hsa-mir-3617-3p (MIRT547965)
- hsa-mir-3074-3p (MIRT547966)
- hsa-mir-548p (MIRT547967)
- hsa-mir-15a-5p (MIRT547968)
- hsa-mir-497-5p (MIRT547969)
- hsa-mir-424-5p (MIRT547970)
- hsa-mir-195-5p (MIRT547971)
- hsa-mir-15b-5p (MIRT547972)
- hsa-mir-6838-5p (MIRT547973)
- hsa-mir-1277-5p (MIRT557308)
miRNA Products
- Search ViGene Biosciences for HIGD1A
Inhibitory RNA Products
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-
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for HIGD1A
-
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-
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-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| 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 | -- |
Pathways & Interactions for HIGD1A Gene
Pathways by source for HIGD1A Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for HIGD1A Gene
Transcripts for HIGD1A Gene
mRNA/cDNA for HIGD1A Gene
- (3) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (1403) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIGD1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIGD1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIGD1A
- GenScript: Design CRISPR guide RNA sequences for HIGD1A
miRNA Products
- Search ViGene Biosciences for HIGD1A
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIGD1A
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-
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Clone Products
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||
| SP6: | - | - |
Expression for HIGD1A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of HIGD1A Gene:
HIGD1ASOURCE GeneReport for Unigene cluster for HIGD1A Gene:
Hs.593134Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for HIGD1A
-
OriGene qPCR primer pairs and template standards for HIGD1A
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIGD1A 34 |
|
||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | HIGD1A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HIGD1A 34 |
|
||
| HIGD1D 35 35 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Higd1a 16 35 34 |
|
||
| Gm9790 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Higd1a 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HIGD1A 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HIGD1A 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | higd1a 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hig1 34 35 |
|
||
| -- 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9500 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11825 35 |
|
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)
Paralogs for HIGD1A Gene
(4) SIMAP similar genes for HIGD1A Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for HIGD1A Gene
- PGOHUM00000290557
- PGOHUM00000290836
- PGOHUM00000291551
- PGOHUM00000291653
- PGOHUM00000291674
- PGOHUM00000292207
- PGOHUM00000295686
- PGOHUM00000296456
- PGOHUM00000297048
- PGOHUM00000297114
- PGOHUM00000298335
- PGOHUM00000299906
- PGOHUM00000300318
- PGOHUM00000301186
- PGOHUM00000302599
- PGOHUM00000303259
- PGOHUM00000303596
Variants 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 |
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoxia |
|
|
Search HIGD1A in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HIGD1A
No data available for UniProtKB/Swiss-Prot and Genatlas for HIGD1A Gene
Publications for HIGD1A Gene
- 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
- 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
- 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
- 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
- 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
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- Yeast expression
Sources for HIGD1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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- (22) Novoseek
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- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
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- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
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- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer