Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Small integral membrane protein 20

Gene

SMIM20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover.1 Publication

GO - Biological processi

  • mitochondrial respiratory chain complex IV assembly Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33853-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Small integral membrane protein 20
Alternative name(s):
Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa1 Publication
Short name:
MITRAC71 Publication
Gene namesi
Name:SMIM20
Synonyms:C4orf52, MITRAC71 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:37260. SMIM20.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6Mitochondrial matrix1 Publication6
Transmembranei7 – 27HelicalSequence analysisAdd BLAST21
Topological domaini28 – 67Mitochondrial intermembrane1 PublicationAdd BLAST40

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi389203.
OpenTargetsiENSG00000250317.
PharmGKBiPA165663312.

Polymorphism and mutation databases

DMDMi172046141.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003260491 – 67Small integral membrane protein 20Add BLAST67

Proteomic databases

EPDiQ8N5G0.
MaxQBiQ8N5G0.
PaxDbiQ8N5G0.
PeptideAtlasiQ8N5G0.
PRIDEiQ8N5G0.
TopDownProteomicsiQ8N5G0-1. [Q8N5G0-1]
Q8N5G0-2. [Q8N5G0-2]

PTM databases

PhosphoSitePlusiQ8N5G0.

Expressioni

Gene expression databases

BgeeiENSG00000250317.
ExpressionAtlasiQ8N5G0. baseline and differential.
GenevisibleiQ8N5G0. HS.

Organism-specific databases

HPAiHPA016552.

Interactioni

Subunit structurei

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COA3/MITRAC12 and COX4I1. Directly interacts with newly synthesized MT-CO1/COX1.1 Publication

Protein-protein interaction databases

BioGridi133034. 4 interactors.
IntActiQ8N5G0. 2 interactors.
STRINGi9606.ENSP00000427407.

Structurei

3D structure databases

ProteinModelPortaliQ8N5G0.
SMRiQ8N5G0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J5GV. Eukaryota.
ENOG410Y1I1. LUCA.
GeneTreeiENSGT00390000002398.
HOGENOMiHOG000008570.
InParanoidiQ8N5G0.
OMAiKESRQNR.
OrthoDBiEOG091G1379.
PhylomeDBiQ8N5G0.
TreeFamiTF353700.

Family and domain databases

InterProiIPR027917. DUF4538.
[Graphical view]
PfamiPF15061. DUF4538. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N5G0-1) [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
MSRNLRTALI FGGFISLIGA AFYPIYFRPL MRLEEYKKEQ AINRAGIVQE
60
DVQPPGLKVW SDPFGRK
Length:67
Mass (Da):7,702
Last modified:November 2, 2016 - v3
Checksum:iFCBA42B976E900AA
GO
Isoform 2 (identifier: Q8N5G0-2) [UniParc]FASTAAdd to basket

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

Note: Gene prediction.Curated
Show »
Length:168
Mass (Da):18,403
Checksum:i37A1CFA36EADEA40
GO

Sequence cautioni

The sequence AAH06003 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH32431 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0399688A → T.Corresponds to variant rs4521339dbSNPEnsembl.1
Isoform 2 (identifier: Q8N5G0-2)
Natural varianti41A → T.CuratedCorresponds to variant rs2305669dbSNPEnsembl.1
Natural varianti65S → N.CuratedCorresponds to variant rs6448414dbSNPEnsembl.1
Natural varianti76H → N.CuratedCorresponds to variant rs2305670dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0388311M → MVKEVWRVLREEPGRRKESR QNRARGNRVQQNSSNLNPTP APGPHSTESRGRRRAGSEAP PRPGSESLSTSSERGHGPAV GNLVSESAGRSAGQGSPGPD AM in isoform 2. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC133961 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92845.1.
BC006003 mRNA. Translation: AAH06003.1. Different initiation.
BC032431 mRNA. Translation: AAH32431.1. Different initiation.
CCDSiCCDS47038.1. [Q8N5G0-2]
RefSeqiNP_001138904.1. NM_001145432.1. [Q8N5G0-2]
UniGeneiHs.479386.

Genome annotation databases

EnsembliENST00000506197; ENSP00000427407; ENSG00000250317. [Q8N5G0-1]
ENST00000614775; ENSP00000483831; ENSG00000250317. [Q8N5G0-2]
GeneIDi389203.
KEGGihsa:389203.
UCSCiuc003grw.5. human. [Q8N5G0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC133961 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92845.1.
BC006003 mRNA. Translation: AAH06003.1. Different initiation.
BC032431 mRNA. Translation: AAH32431.1. Different initiation.
CCDSiCCDS47038.1. [Q8N5G0-2]
RefSeqiNP_001138904.1. NM_001145432.1. [Q8N5G0-2]
UniGeneiHs.479386.

3D structure databases

ProteinModelPortaliQ8N5G0.
SMRiQ8N5G0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133034. 4 interactors.
IntActiQ8N5G0. 2 interactors.
STRINGi9606.ENSP00000427407.

PTM databases

PhosphoSitePlusiQ8N5G0.

Polymorphism and mutation databases

DMDMi172046141.

Proteomic databases

EPDiQ8N5G0.
MaxQBiQ8N5G0.
PaxDbiQ8N5G0.
PeptideAtlasiQ8N5G0.
PRIDEiQ8N5G0.
TopDownProteomicsiQ8N5G0-1. [Q8N5G0-1]
Q8N5G0-2. [Q8N5G0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000506197; ENSP00000427407; ENSG00000250317. [Q8N5G0-1]
ENST00000614775; ENSP00000483831; ENSG00000250317. [Q8N5G0-2]
GeneIDi389203.
KEGGihsa:389203.
UCSCiuc003grw.5. human. [Q8N5G0-1]

Organism-specific databases

CTDi389203.
DisGeNETi389203.
GeneCardsiSMIM20.
H-InvDBHIX0031425.
HGNCiHGNC:37260. SMIM20.
HPAiHPA016552.
neXtProtiNX_Q8N5G0.
OpenTargetsiENSG00000250317.
PharmGKBiPA165663312.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J5GV. Eukaryota.
ENOG410Y1I1. LUCA.
GeneTreeiENSGT00390000002398.
HOGENOMiHOG000008570.
InParanoidiQ8N5G0.
OMAiKESRQNR.
OrthoDBiEOG091G1379.
PhylomeDBiQ8N5G0.
TreeFamiTF353700.

Enzyme and pathway databases

BioCyciZFISH:G66-33853-MONOMER.

Miscellaneous databases

GenomeRNAii389203.
PROiQ8N5G0.

Gene expression databases

BgeeiENSG00000250317.
ExpressionAtlasiQ8N5G0. baseline and differential.
GenevisibleiQ8N5G0. HS.

Family and domain databases

InterProiIPR027917. DUF4538.
[Graphical view]
PfamiPF15061. DUF4538. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMI20_HUMAN
AccessioniPrimary (citable) accession number: Q8N5G0
Secondary accession number(s): C9JYT8, Q9BRT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: November 2, 2016
Last modified: November 30, 2016
This is version 80 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

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.