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Protein

HIG1 domain family member 1A, mitochondrial

Gene

HIGD1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  • negative regulation of apoptotic process Source: MGI
  • oxidation-reduction process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Stress response, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1234158. Regulation of gene expression by Hypoxia-inducible Factor.

Names & Taxonomyi

Protein namesi
Recommended name:
HIG1 domain family member 1A, mitochondrial
Alternative name(s):
Hypoxia-inducible gene 1 protein
RCF1 homolog A
Short name:
RCF1a
Gene namesi
Name:HIGD1A
Synonyms:HIG1
ORF Names:HSPC010
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:29527. HIGD1A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei26 – 46HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei60 – 80HelicalPROSITE-ProRule annotationAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi25994.
OpenTargetsiENSG00000181061.
PharmGKBiPA142671681.

Polymorphism and mutation databases

BioMutaiHIGD1A.
DMDMi74753465.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002157702 – 93HIG1 domain family member 1A, mitochondrialAdd BLAST92

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserine1 Publication1
Modified residuei8PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y241.
PaxDbiQ9Y241.
PeptideAtlasiQ9Y241.
PRIDEiQ9Y241.
TopDownProteomicsiQ9Y241-1. [Q9Y241-1]
Q9Y241-2. [Q9Y241-2]

PTM databases

iPTMnetiQ9Y241.
PhosphoSitePlusiQ9Y241.

Expressioni

Inductioni

By hypoxia.1 Publication

Gene expression databases

BgeeiENSG00000181061.
CleanExiHS_HIGD1A.
ExpressionAtlasiQ9Y241. baseline and differential.
GenevisibleiQ9Y241. HS.

Organism-specific databases

HPAiHPA043336.

Interactioni

Subunit structurei

Associates with cytochrome c oxidase (COX, complex IV); proposed complex component. Also associates with respiratory chain supercomplexes.1 Publication

Protein-protein interaction databases

BioGridi117472. 15 interactors.
IntActiQ9Y241. 4 interactors.
MINTiMINT-4725327.
STRINGi9606.ENSP00000398064.

Structurei

Secondary structure

193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi17 – 21Combined sources5
Helixi30 – 48Combined sources19
Beta strandi49 – 53Combined sources5
Helixi65 – 81Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LOMNMR-A1-93[»]
ProteinModelPortaliQ9Y241.
SMRiQ9Y241.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 93HIG1PROSITE-ProRule annotationAdd BLAST93

Sequence similaritiesi

Contains 1 HIG1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4431. Eukaryota.
ENOG41121ET. LUCA.
GeneTreeiENSGT00530000063398.
HOGENOMiHOG000234513.
HOVERGENiHBG054361.
InParanoidiQ9Y241.
OMAiREYWAKP.
OrthoDBiEOG091G166Q.
PhylomeDBiQ9Y241.
TreeFamiTF314628.

Family and domain databases

InterProiIPR007667. Hypoxia_induced_domain.
[Graphical view]
PfamiPF04588. HIG_1_N. 1 hit.
[Graphical view]
PROSITEiPS51503. HIG1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y241-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSTDTGVSLP SYEEDQGSKL IRKAKEAPFV PVGIAGFAAI VAYGLYKLKS
60 70 80 90
RGNTKMSIHL IHMRVAAQGF VVGAMTVGMG YSMYREFWAK PKP
Length:93
Mass (Da):10,143
Last modified:November 1, 1999 - v1
Checksum:i9399D8D1D381B66B
GO
Isoform 2 (identifier: Q9Y241-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEQKLVEEILQAITM

Show »
Length:107
Mass (Da):11,770
Checksum:i50D7C32FE5921B0E
GO

Sequence cautioni

The sequence BG400624 differs from that shown. Reason: Frameshift at position 32.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti92K → E in CAB53686 (PubMed:11230166).Curated1
Sequence conflicti92K → E in CAG33666 (Ref. 4) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0412111M → MEQKLVEEILQAITM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF145385 mRNA. Translation: AAD33954.1.
AF077034 mRNA. Translation: AAD27767.1.
AL110233 mRNA. Translation: CAB53686.1.
CR457385 mRNA. Translation: CAG33666.1.
BC000601 mRNA. Translation: AAH00601.1.
BC009583 mRNA. Translation: AAH09583.1.
BC009594 mRNA. Translation: AAH09594.1.
BC070277 mRNA. Translation: AAH70277.1.
BG400624 mRNA. No translation available.
CCDSiCCDS43073.1. [Q9Y241-1]
CCDS46806.1. [Q9Y241-2]
PIRiT14766.
RefSeqiNP_001093138.1. NM_001099668.1. [Q9Y241-2]
NP_001093139.1. NM_001099669.1. [Q9Y241-1]
NP_054775.2. NM_014056.3. [Q9Y241-1]
UniGeneiHs.593134.
Hs.728813.

Genome annotation databases

EnsembliENST00000321331; ENSP00000319393; ENSG00000181061. [Q9Y241-1]
ENST00000418900; ENSP00000402160; ENSG00000181061. [Q9Y241-1]
ENST00000452906; ENSP00000398064; ENSG00000181061. [Q9Y241-2]
GeneIDi25994.
KEGGihsa:25994.
UCSCiuc003cma.5. human. [Q9Y241-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF145385 mRNA. Translation: AAD33954.1.
AF077034 mRNA. Translation: AAD27767.1.
AL110233 mRNA. Translation: CAB53686.1.
CR457385 mRNA. Translation: CAG33666.1.
BC000601 mRNA. Translation: AAH00601.1.
BC009583 mRNA. Translation: AAH09583.1.
BC009594 mRNA. Translation: AAH09594.1.
BC070277 mRNA. Translation: AAH70277.1.
BG400624 mRNA. No translation available.
CCDSiCCDS43073.1. [Q9Y241-1]
CCDS46806.1. [Q9Y241-2]
PIRiT14766.
RefSeqiNP_001093138.1. NM_001099668.1. [Q9Y241-2]
NP_001093139.1. NM_001099669.1. [Q9Y241-1]
NP_054775.2. NM_014056.3. [Q9Y241-1]
UniGeneiHs.593134.
Hs.728813.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LOMNMR-A1-93[»]
ProteinModelPortaliQ9Y241.
SMRiQ9Y241.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117472. 15 interactors.
IntActiQ9Y241. 4 interactors.
MINTiMINT-4725327.
STRINGi9606.ENSP00000398064.

PTM databases

iPTMnetiQ9Y241.
PhosphoSitePlusiQ9Y241.

Polymorphism and mutation databases

BioMutaiHIGD1A.
DMDMi74753465.

Proteomic databases

EPDiQ9Y241.
PaxDbiQ9Y241.
PeptideAtlasiQ9Y241.
PRIDEiQ9Y241.
TopDownProteomicsiQ9Y241-1. [Q9Y241-1]
Q9Y241-2. [Q9Y241-2]

Protocols and materials databases

DNASUi25994.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321331; ENSP00000319393; ENSG00000181061. [Q9Y241-1]
ENST00000418900; ENSP00000402160; ENSG00000181061. [Q9Y241-1]
ENST00000452906; ENSP00000398064; ENSG00000181061. [Q9Y241-2]
GeneIDi25994.
KEGGihsa:25994.
UCSCiuc003cma.5. human. [Q9Y241-1]

Organism-specific databases

CTDi25994.
DisGeNETi25994.
GeneCardsiHIGD1A.
HGNCiHGNC:29527. HIGD1A.
HPAiHPA043336.
neXtProtiNX_Q9Y241.
OpenTargetsiENSG00000181061.
PharmGKBiPA142671681.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4431. Eukaryota.
ENOG41121ET. LUCA.
GeneTreeiENSGT00530000063398.
HOGENOMiHOG000234513.
HOVERGENiHBG054361.
InParanoidiQ9Y241.
OMAiREYWAKP.
OrthoDBiEOG091G166Q.
PhylomeDBiQ9Y241.
TreeFamiTF314628.

Enzyme and pathway databases

ReactomeiR-HSA-1234158. Regulation of gene expression by Hypoxia-inducible Factor.

Miscellaneous databases

ChiTaRSiHIGD1A. human.
GeneWikiiHIGD1A.
GenomeRNAii25994.
PROiQ9Y241.

Gene expression databases

BgeeiENSG00000181061.
CleanExiHS_HIGD1A.
ExpressionAtlasiQ9Y241. baseline and differential.
GenevisibleiQ9Y241. HS.

Family and domain databases

InterProiIPR007667. Hypoxia_induced_domain.
[Graphical view]
PfamiPF04588. HIG_1_N. 1 hit.
[Graphical view]
PROSITEiPS51503. HIG1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHIG1A_HUMAN
AccessioniPrimary (citable) accession number: Q9Y241
Secondary accession number(s): Q9UFZ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.