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Protein

Surfeit locus protein 1

Gene

SURF1

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

Functioni

May play a role in mitochondrial respiratory chain complex IV assembly (PubMed:24027061). Probably involved in the biogenesis of the COX complex (PubMed:9843204).2 Publications

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: ProtInc

GO - Biological processi

  • aerobic respiration Source: ProtInc
  • ATP biosynthetic process Source: BHF-UCL
  • oxidation-reduction process Source: ProtInc
  • oxidative phosphorylation Source: BHF-UCL
  • respiratory chain complex IV assembly Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

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

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

HGNCiHGNC:11474. SURF1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei61 – 7919HelicalSequence analysisAdd
BLAST
Transmembranei274 – 29017HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial respiratory chain Source: ProtInc
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561A → G Found in a patient with LS; unknown pathological significance. 1 Publication
Corresponds to variant rs116779216 [ dbSNP | Ensembl ].
VAR_068648
Natural varianti90 – 901L → P in LS. 1 Publication
VAR_068649
Natural varianti124 – 1241G → E in LS. 1 Publication
Corresponds to variant rs28933402 [ dbSNP | Ensembl ].
VAR_007450
Natural varianti124 – 1241G → R in LS.
Corresponds to variant rs782033035 [ dbSNP | Ensembl ].
VAR_015258
Natural varianti177 – 1771V → G in LS. 1 Publication
VAR_068650
Natural varianti205 – 2051G → E in LS. 1 Publication
VAR_068651
Natural varianti227 – 2271W → R in LS; unknown pathological significance. 1 Publication
Corresponds to variant rs398122806 [ dbSNP | Ensembl ].
VAR_068682
Natural varianti235 – 2351M → T in LS. 1 Publication
VAR_068652
Natural varianti246 – 2461I → T in LS. 1 Publication
VAR_007452
Natural varianti248 – 2481A → D in LS. 1 Publication
VAR_068653
Natural varianti257 – 2571G → R in LS. 1 Publication
VAR_068654
Natural varianti274 – 2741Y → D in LS. 1 Publication
Corresponds to variant rs121918658 [ dbSNP | Ensembl ].
VAR_015259
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti192 – 1921R → W in CMT4K; unknown pathological significance. 1 Publication
VAR_076315

Keywords - Diseasei

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

Organism-specific databases

MalaCardsiSURF1.
MIMi256000. phenotype.
616684. phenotype.
Orphaneti1561. Fatal infantile cytochrome C oxidase deficiency.
70474. 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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 300300Surfeit locus protein 1PRO_0000215652Add
BLAST

Proteomic databases

EPDiQ15526.
MaxQBiQ15526.
PaxDbiQ15526.
PeptideAtlasiQ15526.
PRIDEiQ15526.

PTM databases

iPTMnetiQ15526.
PhosphoSiteiQ15526.

Expressioni

Gene expression databases

BgeeiENSG00000148290.
CleanExiHS_SURF1.
ExpressionAtlasiQ15526. baseline and differential.
GenevisibleiQ15526. HS.

Organism-specific databases

HPAiCAB033946.
HPA021029.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi112701. 23 interactions.
IntActiQ15526. 6 interactions.
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.
OMAiHWYYRDL.
OrthoDBiEOG091G0IWR.
PhylomeDBiQ15526.
TreeFamiTF314684.

Family and domain databases

CDDicd06662. SURF1. 1 hit.
InterProiIPR002994. Surf1/Shy1.
[Graphical view]
PfamiPF02104. SURF1. 1 hit.
[Graphical view]
PROSITEiPS50895. SURF1. 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: 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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561A → G Found in a patient with LS; unknown pathological significance. 1 Publication
Corresponds to variant rs116779216 [ dbSNP | Ensembl ].
VAR_068648
Natural varianti89 – 891N → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_036340
Natural varianti90 – 901L → P in LS. 1 Publication
VAR_068649
Natural varianti124 – 1241G → E in LS. 1 Publication
Corresponds to variant rs28933402 [ dbSNP | Ensembl ].
VAR_007450
Natural varianti124 – 1241G → R in LS.
Corresponds to variant rs782033035 [ dbSNP | Ensembl ].
VAR_015258
Natural varianti177 – 1771V → G in LS. 1 Publication
VAR_068650
Natural varianti192 – 1921R → W in CMT4K; unknown pathological significance. 1 Publication
VAR_076315
Natural varianti202 – 2021D → H.1 Publication
Corresponds to variant rs72619327 [ dbSNP | Ensembl ].
VAR_007451
Natural varianti205 – 2051G → E in LS. 1 Publication
VAR_068651
Natural varianti227 – 2271W → R in LS; unknown pathological significance. 1 Publication
Corresponds to variant rs398122806 [ dbSNP | Ensembl ].
VAR_068682
Natural varianti235 – 2351M → T in LS. 1 Publication
VAR_068652
Natural varianti246 – 2461I → T in LS. 1 Publication
VAR_007452
Natural varianti248 – 2481A → D in LS. 1 Publication
VAR_068653
Natural varianti257 – 2571G → R in LS. 1 Publication
VAR_068654
Natural varianti274 – 2741Y → D in LS. 1 Publication
Corresponds to variant rs121918658 [ dbSNP | Ensembl ].
VAR_015259

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei173 – 18412Missing in isoform 2. CuratedVSP_034817Add
BLAST

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

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. 23 interactions.
IntActiQ15526. 6 interactions.
STRINGi9606.ENSP00000361042.

PTM databases

iPTMnetiQ15526.
PhosphoSiteiQ15526.

Polymorphism and mutation databases

DMDMi2498973.

Proteomic databases

EPDiQ15526.
MaxQBiQ15526.
PaxDbiQ15526.
PeptideAtlasiQ15526.
PRIDEiQ15526.

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.
GeneCardsiSURF1.
HGNCiHGNC:11474. SURF1.
HPAiCAB033946.
HPA021029.
MalaCardsiSURF1.
MIMi185620. gene.
256000. phenotype.
616684. phenotype.
neXtProtiNX_Q15526.
Orphaneti1561. Fatal infantile cytochrome C oxidase deficiency.
70474. 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.
OMAiHWYYRDL.
OrthoDBiEOG091G0IWR.
PhylomeDBiQ15526.
TreeFamiTF314684.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiSURF1.
GenomeRNAii6834.
PROiQ15526.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148290.
CleanExiHS_SURF1.
ExpressionAtlasiQ15526. baseline and differential.
GenevisibleiQ15526. HS.

Family and domain databases

CDDicd06662. SURF1. 1 hit.
InterProiIPR002994. Surf1/Shy1.
[Graphical view]
PfamiPF02104. SURF1. 1 hit.
[Graphical view]
PROSITEiPS50895. SURF1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSURF1_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 144 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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
  5. 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.