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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

Probably involved in the biogenesis of the COX complex.

GO - Molecular functioni

  1. cytochrome-c oxidase activity Source: ProtInc

GO - Biological processi

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

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_268444. Orphan transporters.

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
ProteomesiUP000005640 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

  1. integral component of membrane Source: UniProtKB-KW
  2. 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.
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
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
VAR_015259

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

MIMi256000. 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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 300300Surfeit locus protein 1PRO_0000215652Add
BLAST

Proteomic databases

MaxQBiQ15526.
PaxDbiQ15526.
PRIDEiQ15526.

PTM databases

PhosphoSiteiQ15526.

Expressioni

Gene expression databases

BgeeiQ15526.
CleanExiHS_SURF1.
ExpressionAtlasiQ15526. baseline and differential.
GenevestigatoriQ15526.

Organism-specific databases

HPAiCAB033946.
HPA021029.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi112701. 22 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

eggNOGiCOG3346.
GeneTreeiENSGT00530000064194.
HOGENOMiHOG000097776.
HOVERGENiHBG058486.
InParanoidiQ15526.
KOiK14998.
OMAiVERNRWH.
OrthoDBiEOG7VQJF0.
PhylomeDBiQ15526.
TreeFamiTF314684.

Family and domain databases

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.
VAR_015258
Natural varianti177 – 1771V → G in LS. 1 Publication
VAR_068650
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
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
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]
GeneIDi6834.
KEGGihsa:6834.
UCSCiuc004cdh.1. human. [Q15526-1]

Polymorphism databases

DMDMi2498973.

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. 22 interactions.
IntActiQ15526. 6 interactions.
STRINGi9606.ENSP00000361042.

PTM databases

PhosphoSiteiQ15526.

Polymorphism databases

DMDMi2498973.

Proteomic databases

MaxQBiQ15526.
PaxDbiQ15526.
PRIDEiQ15526.

Protocols and materials databases

DNASUi6834.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6834.
GeneCardsiGC09M136218.
HGNCiHGNC:11474. SURF1.
HPAiCAB033946.
HPA021029.
MIMi185620. gene.
256000. 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

eggNOGiCOG3346.
GeneTreeiENSGT00530000064194.
HOGENOMiHOG000097776.
HOVERGENiHBG058486.
InParanoidiQ15526.
KOiK14998.
OMAiVERNRWH.
OrthoDBiEOG7VQJF0.
PhylomeDBiQ15526.
TreeFamiTF314684.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_268444. Orphan transporters.

Miscellaneous databases

GeneWikiiSURF1.
GenomeRNAii6834.
NextBioi26679.
PROiQ15526.
SOURCEiSearch...

Gene expression databases

BgeeiQ15526.
CleanExiHS_SURF1.
ExpressionAtlasiQ15526. baseline and differential.
GenevestigatoriQ15526.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human."
    Lennard A., Gaston K., Fried M.
    DNA Cell Biol. 13:1117-1126(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon, Kidney, Skin and Stomach.
  5. "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome."
    Zhu Z., Yao J., Johns T., Fu K., de Bie I., Macmillan C., Cuthbert A.P., Newbold R.F., Wang J., Chevrette M., Brown G.K., Brown R.M., Shoubridge E.A.
    Nat. Genet. 20:337-343(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE FUNCTION, INVOLVEMENT IN LS.
  6. "Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency."
    Pequignot M.O., Dey R., Zeviani M., Tiranti V., Godinot C., Poyau A., Sue C., Di Mauro S., Abitbol M., Marsac C.
    Hum. Mutat. 17:374-381(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON LS VARIANTS.
  7. "Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients."
    Poyau A., Buchet K., Bouzidi M.F., Zabot M.-T., Echenne B., Yao J., Shoubridge E.A., Godinot C.
    Hum. Genet. 106:194-205(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LS GLU-124 AND THR-246, VARIANT HIS-202.
  8. "Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency."
    Teraoka M., Yokoyama Y., Ninomiya S., Inoue C., Yamashita S., Seino Y.
    Hum. Genet. 105:560-563(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LS ASP-274.
  9. "SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome."
    Piekutowska-Abramczuk D., Popowska E., Pronicka E., Karczmarewicz E., Pronicki M., Kmiec T., Krajewska-Walasek M.
    J. Appl. Genet. 42:103-108(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LS THR-235.
  10. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-89.
  11. Cited for: VARIANT LS ARG-227.
  12. Cited for: VARIANT LS ASP-248.
  13. "SURF1-associated leigh syndrome: A case series and novel mutations."
    Lee I.C., El-Hattab A.W., Wang J., Li F.Y., Weng S.W., Craigen W.J., Wong L.J.
    Hum. Mutat. 33:1192-1200(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LS PRO-90; GLY-177; GLU-205 AND ARG-257, VARIANT GLY-56.

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: April 1, 2015
This is version 131 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

External Data

Dasty 3

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 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.