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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

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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei26 – 4621HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei60 – 8021HelicalPROSITE-ProRule annotationAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671681.

Polymorphism and mutation databases

BioMutaiHIGD1A.
DMDMi74753465.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 9392HIG1 domain family member 1A, mitochondrialPRO_0000215770Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Modified residuei8 – 81PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y241.
MaxQBiQ9Y241.
PaxDbiQ9Y241.
PRIDEiQ9Y241.
TopDownProteomicsiQ9Y241-1. [Q9Y241-1]
Q9Y241-2. [Q9Y241-2]

PTM databases

iPTMnetiQ9Y241.
PhosphoSiteiQ9Y241.

Expressioni

Inductioni

By hypoxia.1 Publication

Gene expression databases

BgeeiQ9Y241.
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 respratory chain supercomplexes.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CASP4P496621EBI-1051940,EBI-1057327
PAK7Q9P2861EBI-1051940,EBI-1051061
SNRPBP146781EBI-1051940,EBI-372458

Protein-protein interaction databases

BioGridi117472. 15 interactions.
IntActiQ9Y241. 3 interactions.
MINTiMINT-4725327.
STRINGi9606.ENSP00000398064.

Structurei

Secondary structure

1
93
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi17 – 215Combined sources
Helixi30 – 4819Combined sources
Beta strandi49 – 535Combined sources
Helixi65 – 8117Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LOMNMR-A1-93[»]
ProteinModelPortaliQ9Y241.
SMRiQ9Y241. Positions 1-93.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 9393HIG1PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 HIG1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4431. Eukaryota.
ENOG41121ET. LUCA.
GeneTreeiENSGT00530000063398.
HOGENOMiHOG000234513.
HOVERGENiHBG054361.
InParanoidiQ9Y241.
OMAiGYSMYQE.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti92 – 921K → E in CAB53686 (PubMed:11230166).Curated
Sequence conflicti92 – 921K → E in CAG33666 (Ref. 4) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MEQKLVEEILQAITM in isoform 2. 1 PublicationVSP_041211

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
EntryMethodResolution (Å)ChainPositionsPDBsum
2LOMNMR-A1-93[»]
ProteinModelPortaliQ9Y241.
SMRiQ9Y241. Positions 1-93.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117472. 15 interactions.
IntActiQ9Y241. 3 interactions.
MINTiMINT-4725327.
STRINGi9606.ENSP00000398064.

PTM databases

iPTMnetiQ9Y241.
PhosphoSiteiQ9Y241.

Polymorphism and mutation databases

BioMutaiHIGD1A.
DMDMi74753465.

Proteomic databases

EPDiQ9Y241.
MaxQBiQ9Y241.
PaxDbiQ9Y241.
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.
GeneCardsiHIGD1A.
HGNCiHGNC:29527. HIGD1A.
HPAiHPA043336.
neXtProtiNX_Q9Y241.
PharmGKBiPA142671681.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4431. Eukaryota.
ENOG41121ET. LUCA.
GeneTreeiENSGT00530000063398.
HOGENOMiHOG000234513.
HOVERGENiHBG054361.
InParanoidiQ9Y241.
OMAiGYSMYQE.
PhylomeDBiQ9Y241.
TreeFamiTF314628.

Miscellaneous databases

ChiTaRSiHIGD1A. human.
GeneWikiiHIGD1A.
GenomeRNAii25994.
NextBioi47702.
PROiQ9Y241.

Gene expression databases

BgeeiQ9Y241.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Epigenetic regulation of gene expression in cervical cancer cells by the tumor microenvironment."
    Denko N.C., Schindler C., Koong A., Laderoute K., Green C., Giaccia A.J.
    Clin. Cancer Res. 6:480-487(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION.
    Tissue: Cervix carcinoma.
  2. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Umbilical cord blood.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Bone marrow, Brain, Lung and Skin.
  6. Bienvenut W.V., Waridel P., Quadroni M.
    Submitted (MAR-2009) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 2-19 AND 26-47, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Embryonic kidney.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex."
    Vukotic M., Oeljeklaus S., Wiese S., Vogtle F.N., Meisinger C., Meyer H.E., Zieseniss A., Katschinski D.M., Jans D.C., Jakobs S., Warscheid B., Rehling P., Deckers M.
    Cell Metab. 15:336-347(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION.
  9. Cited for: STRUCTURE BY NMR.

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: May 11, 2016
This is version 125 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.