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Protein

Surfeit locus protein 1

Gene

SURF1

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.1 Publication2 Publications

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: ProtInc

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport
SIGNORiQ15526

Names & Taxonomyi

Protein namesi
Recommended name:
Surfeit locus protein 1
Gene namesi
Name:SURF1
Synonyms:SURF-1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148290.9
HGNCiHGNC:11474 SURF1
MIMi185620 gene
neXtProtiNX_Q15526

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
Transmembranei61 – 79HelicalSequence analysisAdd BLAST19
Transmembranei274 – 290HelicalSequence analysisAdd BLAST17

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06864990L → P in LS. 1 PublicationCorresponds to variant dbSNP:rs782024654EnsemblClinVar.1
Natural variantiVAR_007450124G → E in LS. 1 PublicationCorresponds to variant dbSNP:rs28933402EnsemblClinVar.1
Natural variantiVAR_015258124G → R in LS. Corresponds to variant dbSNP:rs782033035Ensembl.1
Natural variantiVAR_068650177V → G in LS. 1 Publication1
Natural variantiVAR_068651205G → E in LS. 1 Publication1
Natural variantiVAR_068682227W → R in LS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122806EnsemblClinVar.1
Natural variantiVAR_068652235M → T in LS. 1 Publication1
Natural variantiVAR_007452246I → T in LS. 1 Publication1
Natural variantiVAR_068653248A → D in LS. 1 Publication1
Natural variantiVAR_068654257G → R in LS. 1 Publication1
Natural variantiVAR_015259274Y → D in LS. 1 PublicationCorresponds to variant dbSNP:rs121918658EnsemblClinVar.1
Charcot-Marie-Tooth disease 4K (CMT4K)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia.
See also OMIM:616684
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076315192R → W in CMT4K; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782190413EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Leigh syndrome, Neurodegeneration, Neuropathy, Primary mitochondrial disease

Organism-specific databases

DisGeNETi6834
MalaCardsiSURF1
MIMi256000 phenotype
616684 phenotype
OpenTargetsiENSG00000148290
Orphaneti70474 Leigh syndrome with cardiomyopathy
255241 Leigh syndrome with leukodystrophy
391351 SURF1-related Charcot-Marie-Tooth disease type 4
PharmGKBiPA36259

Polymorphism and mutation databases

DMDMi2498973

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002156521 – 300Surfeit locus protein 1Add BLAST300

Proteomic databases

EPDiQ15526
MaxQBiQ15526
PaxDbiQ15526
PeptideAtlasiQ15526
PRIDEiQ15526
ProteomicsDBi60616
60617 [Q15526-2]

PTM databases

iPTMnetiQ15526
PhosphoSitePlusiQ15526

Expressioni

Gene expression databases

BgeeiENSG00000148290 Expressed in 226 organ(s), highest expression level in parotid gland
CleanExiHS_SURF1
ExpressionAtlasiQ15526 baseline and differential
GenevisibleiQ15526 HS

Organism-specific databases

HPAiCAB033946

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 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
COA3Q9Y2R06EBI-3915286,EBI-6570446

Protein-protein interaction databases

BioGridi112701, 25 interactors
CORUMiQ15526
IntActiQ15526, 6 interactors
STRINGi9606.ENSP00000361042

Structurei

3D structure databases

ProteinModelPortaliQ15526
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SURF1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410KC4M Eukaryota
COG3346 LUCA
GeneTreeiENSGT00530000064194
HOGENOMiHOG000097776
HOVERGENiHBG058486
InParanoidiQ15526
KOiK14998
OMAiWYSRDVA
OrthoDBiEOG091G0IWR
PhylomeDBiQ15526
TreeFamiTF314684

Family and domain databases

CDDicd06662 SURF1, 1 hit
InterProiView protein in InterPro
IPR002994 Surf1/Shy1
PfamiView protein in Pfam
PF02104 SURF1, 1 hit
PROSITEiView protein in PROSITE
PS50895 SURF1, 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: Q15526-1) [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
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
Length:300
Mass (Da):33,331
Last modified:November 1, 1996 - v1
Checksum:iEC890EA48A0EDE7A
GO
Isoform 2 (identifier: Q15526-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-184: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):31,979
Checksum:iFF30182CA2C1EE6C
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYS9A0A087WYS9_HUMAN
SURF1-like protein
SURF1
191Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06864856A → G Found in a patient with LS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs116779216EnsemblClinVar.1
Natural variantiVAR_03634089N → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_06864990L → P in LS. 1 PublicationCorresponds to variant dbSNP:rs782024654EnsemblClinVar.1
Natural variantiVAR_007450124G → E in LS. 1 PublicationCorresponds to variant dbSNP:rs28933402EnsemblClinVar.1
Natural variantiVAR_015258124G → R in LS. Corresponds to variant dbSNP:rs782033035Ensembl.1
Natural variantiVAR_068650177V → G in LS. 1 Publication1
Natural variantiVAR_076315192R → W in CMT4K; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782190413EnsemblClinVar.1
Natural variantiVAR_007451202D → H1 PublicationCorresponds to variant dbSNP:rs72619327EnsemblClinVar.1
Natural variantiVAR_068651205G → E in LS. 1 Publication1
Natural variantiVAR_068682227W → R in LS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122806EnsemblClinVar.1
Natural variantiVAR_068652235M → T in LS. 1 Publication1
Natural variantiVAR_007452246I → T in LS. 1 Publication1
Natural variantiVAR_068653248A → D in LS. 1 Publication1
Natural variantiVAR_068654257G → R in LS. 1 Publication1
Natural variantiVAR_015259274Y → D in LS. 1 PublicationCorresponds to variant dbSNP:rs121918658EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_034817173 – 184Missing in isoform 2. CuratedAdd BLAST12

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
CCDSiCCDS6966.1 [Q15526-1]
PIRiS57749
RefSeqiNP_001267716.1, NM_001280787.1
NP_003163.1, NM_003172.3 [Q15526-1]
UniGeneiHs.512464

Genome annotation databases

EnsembliENST00000371974; ENSP00000361042; ENSG00000148290 [Q15526-1]
ENST00000626663; ENSP00000487158; ENSG00000280627 [Q15526-1]
GeneIDi6834
KEGGihsa:6834
UCSCiuc004cdh.3 human [Q15526-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS6966.1 [Q15526-1]
PIRiS57749
RefSeqiNP_001267716.1, NM_001280787.1
NP_003163.1, NM_003172.3 [Q15526-1]
UniGeneiHs.512464

3D structure databases

ProteinModelPortaliQ15526
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112701, 25 interactors
CORUMiQ15526
IntActiQ15526, 6 interactors
STRINGi9606.ENSP00000361042

PTM databases

iPTMnetiQ15526
PhosphoSitePlusiQ15526

Polymorphism and mutation databases

DMDMi2498973

Proteomic databases

EPDiQ15526
MaxQBiQ15526
PaxDbiQ15526
PeptideAtlasiQ15526
PRIDEiQ15526
ProteomicsDBi60616
60617 [Q15526-2]

Protocols and materials databases

DNASUi6834
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371974; ENSP00000361042; ENSG00000148290 [Q15526-1]
ENST00000626663; ENSP00000487158; ENSG00000280627 [Q15526-1]
GeneIDi6834
KEGGihsa:6834
UCSCiuc004cdh.3 human [Q15526-1]

Organism-specific databases

CTDi6834
DisGeNETi6834
EuPathDBiHostDB:ENSG00000148290.9
GeneCardsiSURF1
HGNCiHGNC:11474 SURF1
HPAiCAB033946
MalaCardsiSURF1
MIMi185620 gene
256000 phenotype
616684 phenotype
neXtProtiNX_Q15526
OpenTargetsiENSG00000148290
Orphaneti70474 Leigh syndrome with cardiomyopathy
255241 Leigh syndrome with leukodystrophy
391351 SURF1-related Charcot-Marie-Tooth disease type 4
PharmGKBiPA36259
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KC4M Eukaryota
COG3346 LUCA
GeneTreeiENSGT00530000064194
HOGENOMiHOG000097776
HOVERGENiHBG058486
InParanoidiQ15526
KOiK14998
OMAiWYSRDVA
OrthoDBiEOG091G0IWR
PhylomeDBiQ15526
TreeFamiTF314684

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport
SIGNORiQ15526

Miscellaneous databases

GeneWikiiSURF1
GenomeRNAii6834
PROiPR:Q15526
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148290 Expressed in 226 organ(s), highest expression level in parotid gland
CleanExiHS_SURF1
ExpressionAtlasiQ15526 baseline and differential
GenevisibleiQ15526 HS

Family and domain databases

CDDicd06662 SURF1, 1 hit
InterProiView protein in InterPro
IPR002994 Surf1/Shy1
PfamiView protein in Pfam
PF02104 SURF1, 1 hit
PROSITEiView protein in PROSITE
PS50895 SURF1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSURF1_HUMAN
AccessioniPrimary (citable) accession number: Q15526
Secondary accession number(s): Q5T8T3, Q5T8T4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 155 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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