UniProtKB - Q15526 (SURF1_HUMAN)
Surfeit locus protein 1
SURF1
Functioni
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.
1 Publication2 PublicationsGO - Molecular functioni
- cytochrome-c oxidase activity Source: Ensembl
GO - Biological processi
- aerobic respiration Source: ProtInc
- mitochondrial cytochrome c oxidase assembly Source: UniProtKB
- respiratory chain complex IV assembly Source: ProtInc
Enzyme and pathway databases
PathwayCommonsi | Q15526 |
Reactomei | R-HSA-5628897, TP53 Regulates Metabolic Genes R-HSA-611105, Respiratory electron transport R-HSA-9707564, Cytoprotection by HMOX1 |
SignaLinki | Q15526 |
SIGNORi | Q15526 |
Names & Taxonomyi
Protein namesi | Recommended name: Surfeit locus protein 1 |
Gene namesi | Name:SURF1 Synonyms:SURF-1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11474, SURF1 |
MIMi | 185620, gene |
neXtProti | NX_Q15526 |
VEuPathDBi | HostDB:ENSG00000148290 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane By similarity; Multi-pass membrane protein Sequence analysis
Mitochondrion
- mitochondrial respirasome Source: ProtInc
- mitochondrion Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 61 – 79 | HelicalSequence analysisAdd BLAST | 19 | |
Transmembranei | 274 – 290 | HelicalSequence analysisAdd BLAST | 17 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1)11 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068648 | 56 | A → G in MC4DN1; benign variant. 1 PublicationCorresponds to variant dbSNP:rs116779216EnsemblClinVar. | 1 | |
Natural variantiVAR_068649 | 90 | L → P in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs782024654EnsemblClinVar. | 1 | |
Natural variantiVAR_083393 | 105 – 300 | Missing in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224228Add BLAST | 196 | |
Natural variantiVAR_007450 | 124 | G → E in MC4DN1; reduced protein stability. 2 PublicationsCorresponds to variant dbSNP:rs28933402EnsemblClinVar. | 1 | |
Natural variantiVAR_015258 | 124 | G → R in MC4DN1. Corresponds to variant dbSNP:rs782033035Ensembl. | 1 | |
Natural variantiVAR_068650 | 177 | V → G in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_083394 | 178 | N → Y in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 PublicationCorresponds to variant dbSNP:rs587753385EnsemblClinVar. | 1 | |
Natural variantiVAR_068651 | 205 | G → E in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_068682 | 227 | W → R in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122806EnsemblClinVar. | 1 | |
Natural variantiVAR_068652 | 235 | M → T in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1319811735Ensembl. | 1 | |
Natural variantiVAR_007452 | 246 | I → T in MC4DN1. 2 Publications | 1 | |
Natural variantiVAR_068653 | 248 | A → D in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_068654 | 257 | G → R in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_083395 | 257 | G → V in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1030336089Ensembl. | 1 | |
Natural variantiVAR_083396 | 258 | P → S in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 Publication | 1 | |
Natural variantiVAR_083397 | 270 | E → EHLQYE in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly; . 1 PublicationCorresponds to variant dbSNP:rs782161777Ensembl. | 1 | |
Natural variantiVAR_015259 | 274 | Y → D in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs121918658EnsemblClinVar. | 1 |
Charcot-Marie-Tooth disease 4K (CMT4K)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076315 | 192 | R → W in CMT4K; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782190413EnsemblClinVar. | 1 |
Keywords - Diseasei
Charcot-Marie-Tooth disease, Disease variant, Leigh syndrome, Neurodegeneration, Neuropathy, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 6834 |
GeneReviewsi | SURF1 |
MalaCardsi | SURF1 |
MIMi | 220110, phenotype 616684, phenotype |
OpenTargetsi | ENSG00000148290 |
Orphaneti | 70474, Leigh syndrome with cardiomyopathy 255241, Leigh syndrome with leukodystrophy 391351, SURF1-related Charcot-Marie-Tooth disease type 4 |
PharmGKBi | PA36259 |
Miscellaneous databases
Pharosi | Q15526, Tbio |
Genetic variation databases
BioMutai | SURF1 |
DMDMi | 2498973 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215652 | 1 – 300 | Surfeit locus protein 1Add BLAST | 300 |
Proteomic databases
EPDi | Q15526 |
jPOSTi | Q15526 |
MassIVEi | Q15526 |
MaxQBi | Q15526 |
PaxDbi | Q15526 |
PeptideAtlasi | Q15526 |
PRIDEi | Q15526 |
ProteomicsDBi | 60616 [Q15526-1] 60617 [Q15526-2] |
PTM databases
iPTMneti | Q15526 |
MetOSitei | Q15526 |
PhosphoSitePlusi | Q15526 |
Expressioni
Developmental stagei
Gene expression databases
Bgeei | ENSG00000148290, Expressed in parotid gland and 240 other tissues |
ExpressionAtlasi | Q15526, baseline and differential |
Genevisiblei | Q15526, HS |
Organism-specific databases
HPAi | ENSG00000148290, Low tissue specificity |
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.
1 PublicationBinary interactionsi
Q15526
With | #Exp. | IntAct |
---|---|---|
COA3 [Q9Y2R0] | 6 | EBI-3915286,EBI-6570446 |
Protein-protein interaction databases
BioGRIDi | 112701, 196 interactors |
CORUMi | Q15526 |
IntActi | Q15526, 11 interactors |
STRINGi | 9606.ENSP00000361042 |
Miscellaneous databases
RNActi | Q15526, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q15526 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1563, Eukaryota |
GeneTreei | ENSGT00530000064194 |
InParanoidi | Q15526 |
OMAi | WYSRDVA |
PhylomeDBi | Q15526 |
TreeFami | TF314684 |
Family and domain databases
CDDi | cd06662, SURF1, 1 hit |
InterProi | View protein in InterPro IPR002994, Surf1/Shy1 IPR045214, Surf1/Surf4 |
PANTHERi | PTHR23427, PTHR23427, 1 hit |
Pfami | View protein in Pfam PF02104, SURF1, 1 hit |
PROSITEi | View protein in PROSITE PS50895, SURF1, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAVAALQLG LRAAGLGRAP ASAAWRSVLR VSPRPGVAWR PSRCGSSAAE
60 70 80 90 100
ASATKAEDDS FLQWVLLLIP VTAFGLGTWQ VQRRKWKLNL IAELESRVLA
110 120 130 140 150
EPVPLPADPM ELKNLEYRPV KVRGCFDHSK ELYMMPRTMV DPVREAREGG
160 170 180 190 200
LISSSTQSGA YVVTPFHCTD LGVTILVNRG FVPRKKVNPE TRQKGQIEGE
210 220 230 240 250
VDLIGMVRLT ETRQPFVPEN NPERNHWHYR DLEAMARITG AEPIFIDANF
260 270 280 290 300
QSTVPGGPIG GQTRVTLRNE HLQYIVTWYG LSAATSYLWF KKFLRGTPGV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WYS9 | A0A087WYS9_HUMAN | SURF1-like protein | SURF1 | 191 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068648 | 56 | A → G in MC4DN1; benign variant. 1 PublicationCorresponds to variant dbSNP:rs116779216EnsemblClinVar. | 1 | |
Natural variantiVAR_036340 | 89 | N → K in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_068649 | 90 | L → P in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs782024654EnsemblClinVar. | 1 | |
Natural variantiVAR_083393 | 105 – 300 | Missing in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224228Add BLAST | 196 | |
Natural variantiVAR_007450 | 124 | G → E in MC4DN1; reduced protein stability. 2 PublicationsCorresponds to variant dbSNP:rs28933402EnsemblClinVar. | 1 | |
Natural variantiVAR_015258 | 124 | G → R in MC4DN1. Corresponds to variant dbSNP:rs782033035Ensembl. | 1 | |
Natural variantiVAR_068650 | 177 | V → G in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_083394 | 178 | N → Y in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 PublicationCorresponds to variant dbSNP:rs587753385EnsemblClinVar. | 1 | |
Natural variantiVAR_076315 | 192 | R → W in CMT4K; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782190413EnsemblClinVar. | 1 | |
Natural variantiVAR_007451 | 202 | D → H2 PublicationsCorresponds to variant dbSNP:rs72619327EnsemblClinVar. | 1 | |
Natural variantiVAR_068651 | 205 | G → E in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_068682 | 227 | W → R in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122806EnsemblClinVar. | 1 | |
Natural variantiVAR_068652 | 235 | M → T in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1319811735Ensembl. | 1 | |
Natural variantiVAR_007452 | 246 | I → T in MC4DN1. 2 Publications | 1 | |
Natural variantiVAR_068653 | 248 | A → D in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_068654 | 257 | G → R in MC4DN1. 1 Publication | 1 | |
Natural variantiVAR_083395 | 257 | G → V in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1030336089Ensembl. | 1 | |
Natural variantiVAR_083396 | 258 | P → S in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 Publication | 1 | |
Natural variantiVAR_083397 | 270 | E → EHLQYE in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly; . 1 PublicationCorresponds to variant dbSNP:rs782161777Ensembl. | 1 | |
Natural variantiVAR_015259 | 274 | Y → D in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs121918658EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_034817 | 173 – 184 | Missing in isoform 2. CuratedAdd BLAST | 12 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z35093 mRNA Translation: CAA84476.1 AK291122 mRNA Translation: BAF83811.1 AL158826 Genomic DNA Translation: CAI12836.1 AL158826 Genomic DNA Translation: CAI12837.1 BC028314 mRNA Translation: AAH28314.1 BC071658 mRNA Translation: AAH71658.1 |
CCDSi | CCDS6966.1 [Q15526-1] |
PIRi | S57749 |
RefSeqi | NP_001267716.1, NM_001280787.1 NP_003163.1, NM_003172.3 [Q15526-1] |
Genome annotation databases
Ensembli | ENST00000371974.8; ENSP00000361042.3; ENSG00000148290.10 ENST00000626663.3; ENSP00000487158.1; ENSG00000280627.3 |
GeneIDi | 6834 |
KEGGi | hsa:6834 |
MANE-Selecti | ENST00000371974.8; ENSP00000361042.3; NM_003172.4; NP_003163.1 |
UCSCi | uc004cdh.3, human [Q15526-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Surfeit 1 (SURF1) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z35093 mRNA Translation: CAA84476.1 AK291122 mRNA Translation: BAF83811.1 AL158826 Genomic DNA Translation: CAI12836.1 AL158826 Genomic DNA Translation: CAI12837.1 BC028314 mRNA Translation: AAH28314.1 BC071658 mRNA Translation: AAH71658.1 |
CCDSi | CCDS6966.1 [Q15526-1] |
PIRi | S57749 |
RefSeqi | NP_001267716.1, NM_001280787.1 NP_003163.1, NM_003172.3 [Q15526-1] |
3D structure databases
AlphaFoldDBi | Q15526 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112701, 196 interactors |
CORUMi | Q15526 |
IntActi | Q15526, 11 interactors |
STRINGi | 9606.ENSP00000361042 |
PTM databases
iPTMneti | Q15526 |
MetOSitei | Q15526 |
PhosphoSitePlusi | Q15526 |
Genetic variation databases
BioMutai | SURF1 |
DMDMi | 2498973 |
Proteomic databases
EPDi | Q15526 |
jPOSTi | Q15526 |
MassIVEi | Q15526 |
MaxQBi | Q15526 |
PaxDbi | Q15526 |
PeptideAtlasi | Q15526 |
PRIDEi | Q15526 |
ProteomicsDBi | 60616 [Q15526-1] 60617 [Q15526-2] |
Protocols and materials databases
Antibodypediai | 18363, 168 antibodies from 29 providers |
DNASUi | 6834 |
Genome annotation databases
Ensembli | ENST00000371974.8; ENSP00000361042.3; ENSG00000148290.10 ENST00000626663.3; ENSP00000487158.1; ENSG00000280627.3 |
GeneIDi | 6834 |
KEGGi | hsa:6834 |
MANE-Selecti | ENST00000371974.8; ENSP00000361042.3; NM_003172.4; NP_003163.1 |
UCSCi | uc004cdh.3, human [Q15526-1] |
Organism-specific databases
CTDi | 6834 |
DisGeNETi | 6834 |
GeneCardsi | SURF1 |
GeneReviewsi | SURF1 |
HGNCi | HGNC:11474, SURF1 |
HPAi | ENSG00000148290, Low tissue specificity |
MalaCardsi | SURF1 |
MIMi | 185620, gene 220110, phenotype 616684, phenotype |
neXtProti | NX_Q15526 |
OpenTargetsi | ENSG00000148290 |
Orphaneti | 70474, Leigh syndrome with cardiomyopathy 255241, Leigh syndrome with leukodystrophy 391351, SURF1-related Charcot-Marie-Tooth disease type 4 |
PharmGKBi | PA36259 |
VEuPathDBi | HostDB:ENSG00000148290 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1563, Eukaryota |
GeneTreei | ENSGT00530000064194 |
InParanoidi | Q15526 |
OMAi | WYSRDVA |
PhylomeDBi | Q15526 |
TreeFami | TF314684 |
Enzyme and pathway databases
PathwayCommonsi | Q15526 |
Reactomei | R-HSA-5628897, TP53 Regulates Metabolic Genes R-HSA-611105, Respiratory electron transport R-HSA-9707564, Cytoprotection by HMOX1 |
SignaLinki | Q15526 |
SIGNORi | Q15526 |
Miscellaneous databases
BioGRID-ORCSi | 6834, 50 hits in 1077 CRISPR screens |
GeneWikii | SURF1 |
GenomeRNAii | 6834 |
Pharosi | Q15526, Tbio |
PROi | PR:Q15526 |
RNActi | Q15526, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148290, Expressed in parotid gland and 240 other tissues |
ExpressionAtlasi | Q15526, baseline and differential |
Genevisiblei | Q15526, HS |
Family and domain databases
CDDi | cd06662, SURF1, 1 hit |
InterProi | View protein in InterPro IPR002994, Surf1/Shy1 IPR045214, Surf1/Surf4 |
PANTHERi | PTHR23427, PTHR23427, 1 hit |
Pfami | View protein in Pfam PF02104, SURF1, 1 hit |
PROSITEi | View protein in PROSITE PS50895, SURF1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SURF1_HUMAN | |
Accessioni | Q15526Primary (citable) accession number: Q15526 Secondary accession number(s): Q5T8T3, Q5T8T4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1996 | |
Last modified: | May 25, 2022 | |
This is version 173 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families