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: -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

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

EuPathDBiHostDB:ENSG00000250317.8
HGNCiHGNC:37260 SMIM20
MIMi617465 gene
neXtProtiNX_Q8N5G0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

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
ProteomicsDBi72047
72048 [Q8N5G0-2]
TopDownProteomicsiQ8N5G0-1 [Q8N5G0-1]
Q8N5G0-2 [Q8N5G0-2]

PTM databases

iPTMnetiQ8N5G0
PhosphoSitePlusiQ8N5G0

Expressioni

Gene expression databases

BgeeiENSG00000250317 Expressed in 195 organ(s), highest expression level in muscle of leg
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, 6 interactors
CORUMiQ8N5G0
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

InterProiView protein in InterPro
IPR027917 SMIM20
PANTHERiPTHR34923 PTHR34923, 1 hit
PfamiView protein in Pfam
PF15061 DUF4538, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RH91E5RH91_HUMAN
Small integral membrane protein 20
SMIM20
48Annotation score:

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 dbSNP:rs4521339Ensembl.1
Isoform 2 (identifier: Q8N5G0-2)
Natural varianti41A → TCuratedCorresponds to variant dbSNP:rs2305669Ensembl.1
Natural varianti65S → NCuratedCorresponds to variant dbSNP:rs6448414Ensembl.1
Natural varianti76H → NCuratedCorresponds to variant dbSNP:rs2305670Ensembl.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 [Q8N5G0-1]
RefSeqiNP_001138904.1, NM_001145432.1 [Q8N5G0-1]
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

Similar proteinsi

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 [Q8N5G0-1]
RefSeqiNP_001138904.1, NM_001145432.1 [Q8N5G0-1]
UniGeneiHs.479386

3D structure databases

ProteinModelPortaliQ8N5G0
SMRiQ8N5G0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133034, 6 interactors
CORUMiQ8N5G0
IntActiQ8N5G0, 2 interactors
STRINGi9606.ENSP00000427407

PTM databases

iPTMnetiQ8N5G0
PhosphoSitePlusiQ8N5G0

Polymorphism and mutation databases

DMDMi172046141

Proteomic databases

EPDiQ8N5G0
MaxQBiQ8N5G0
PaxDbiQ8N5G0
PeptideAtlasiQ8N5G0
PRIDEiQ8N5G0
ProteomicsDBi72047
72048 [Q8N5G0-2]
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
EuPathDBiHostDB:ENSG00000250317.8
GeneCardsiSMIM20
H-InvDBiHIX0031425
HGNCiHGNC:37260 SMIM20
HPAiHPA016552
MIMi617465 gene
neXtProtiNX_Q8N5G0
OpenTargetsiENSG00000250317
PharmGKBiPA165663312
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J5GV Eukaryota
ENOG410Y1I1 LUCA
GeneTreeiENSGT00390000002398
HOGENOMiHOG000008570
InParanoidiQ8N5G0
OMAiKESRQNR
OrthoDBiEOG091G1379
PhylomeDBiQ8N5G0
TreeFamiTF353700

Miscellaneous databases

GenomeRNAii389203
PROiPR:Q8N5G0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000250317 Expressed in 195 organ(s), highest expression level in muscle of leg
ExpressionAtlasiQ8N5G0 baseline and differential
GenevisibleiQ8N5G0 HS

Family and domain databases

InterProiView protein in InterPro
IPR027917 SMIM20
PANTHERiPTHR34923 PTHR34923, 1 hit
PfamiView protein in Pfam
PF15061 DUF4538, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSIM20_HUMAN
AccessioniPrimary (citable) accession number: Q8N5G0
Secondary accession number(s): C9JYT8, Q9BRT5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: November 2, 2016
Last modified: October 10, 2018
This is version 91 of the entry and version 3 of the sequence. See 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again