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Q15526 (SURF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Surfeit locus protein 1
Gene names
Name:SURF1
Synonyms:SURF-1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length300 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably involved in the biogenesis of the COX complex. Ref.5

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein By similarity.

Involvement in disease

Leigh syndrome (LS) [MIM:256000]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 Ref.13

Sequence similarities

Belongs to the SURF1 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

COA3Q9Y2R06EBI-3915286,EBI-6570446

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15526-1)

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.
Isoform 2 (identifier: Q15526-2)

The sequence of this isoform differs from the canonical sequence as follows:
     173-184: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 300300Surfeit locus protein 1
PRO_0000215652

Regions

Transmembrane61 – 7919Helical; Potential
Transmembrane274 – 29017Helical; Potential

Natural variations

Alternative sequence173 – 18412Missing in isoform 2.
VSP_034817
Natural variant561A → G Found in a patient with LS; unknown pathological significance. Ref.13
Corresponds to variant rs116779216 [ dbSNP | Ensembl ].
VAR_068648
Natural variant891N → K in a breast cancer sample; somatic mutation. Ref.10
VAR_036340
Natural variant901L → P in LS. Ref.13
VAR_068649
Natural variant1241G → E in LS. Ref.7
Corresponds to variant rs28933402 [ dbSNP | Ensembl ].
VAR_007450
Natural variant1241G → R in LS.
VAR_015258
Natural variant1771V → G in LS. Ref.13
VAR_068650
Natural variant2021D → H. Ref.7
Corresponds to variant rs72619327 [ dbSNP | Ensembl ].
VAR_007451
Natural variant2051G → E in LS. Ref.13
VAR_068651
Natural variant2271W → R in LS; unknown pathological significance. Ref.11
VAR_068682
Natural variant2351M → T in LS. Ref.9
VAR_068652
Natural variant2461I → T in LS. Ref.7
VAR_007452
Natural variant2481A → D in LS. Ref.12
VAR_068653
Natural variant2571G → R in LS. Ref.13
VAR_068654
Natural variant2741Y → D in LS. Ref.8
VAR_015259

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: EC890EA48A0EDE7A

FASTA30033,331
        10         20         30         40         50         60 
MAAVAALQLG LRAAGLGRAP ASAAWRSVLR VSPRPGVAWR PSRCGSSAAE ASATKAEDDS 

        70         80         90        100        110        120 
FLQWVLLLIP VTAFGLGTWQ VQRRKWKLNL IAELESRVLA EPVPLPADPM ELKNLEYRPV 

       130        140        150        160        170        180 
KVRGCFDHSK ELYMMPRTMV DPVREAREGG LISSSTQSGA YVVTPFHCTD LGVTILVNRG 

       190        200        210        220        230        240 
FVPRKKVNPE TRQKGQIEGE VDLIGMVRLT ETRQPFVPEN NPERNHWHYR DLEAMARITG 

       250        260        270        280        290        300 
AEPIFIDANF QSTVPGGPIG GQTRVTLRNE HLQYIVTWYG LSAATSYLWF KKFLRGTPGV 

« Hide

Isoform 2 [UniParc].

Checksum: FF30182CA2C1EE6C
Show »

FASTA28831,979

References

« Hide 'large scale' references
[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(1994) [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. expand/collapse author list , 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(2004) [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. expand/collapse author list , 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(2004) [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(2004) [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(1998) [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(2001) [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(2000) [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(1999) [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(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS THR-235.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-89.
[11]"Deep sequencing reveals 50 novel genes for recessive cognitive disorders."
Najmabadi H., Hu H., Garshasbi M., Zemojtel T., Abedini S.S., Chen W., Hosseini M., Behjati F., Haas S., Jamali P., Zecha A., Mohseni M., Puettmann L., Vahid L.N., Jensen C., Moheb L.A., Bienek M., Larti F. expand/collapse author list , Mueller I., Weissmann R., Darvish H., Wrogemann K., Hadavi V., Lipkowitz B., Esmaeeli-Nieh S., Wieczorek D., Kariminejad R., Firouzabadi S.G., Cohen M., Fattahi Z., Rost I., Mojahedi F., Hertzberg C., Dehghan A., Rajab A., Banavandi M.J., Hoffer J., Falah M., Musante L., Kalscheuer V., Ullmann R., Kuss A.W., Tzschach A., Kahrizi K., Ropers H.H.
Nature 478:57-63(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS ARG-227.
[12]"Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations."
Tanigawa J., Kaneko K., Honda M., Harashima H., Murayama K., Wada T., Takano K., Iai M., Yamashita S., Shimbo H., Aida N., Ohtake A., Osaka H.
Brain Dev. 34:861-865(2012) [PubMed] [Europe PMC] [Abstract]
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(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LS PRO-90; GLY-177; GLU-205 AND ARG-257, VARIANT GLY-56.
+Additional computationally mapped references.

Web resources

GeneReviews
Surfeit 1 (SURF1)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS57749.
RefSeqNP_001267716.1. NM_001280787.1.
NP_003163.1. NM_003172.3.
UniGeneHs.512464.

3D structure databases

ProteinModelPortalQ15526.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112701. 17 interactions.
IntActQ15526. 6 interactions.
STRING9606.ENSP00000361042.

PTM databases

PhosphoSiteQ15526.

Polymorphism databases

DMDM2498973.

Proteomic databases

PaxDbQ15526.
PRIDEQ15526.

Protocols and materials databases

DNASU6834.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371974; ENSP00000361042; ENSG00000148290. [Q15526-1]
ENST00000563547; ENSP00000458055; ENSG00000260692.
ENST00000564539; ENSP00000456408; ENSG00000260692. [Q15526-1]
GeneID6834.
KEGGhsa:6834.
UCSCuc004cdh.1. human. [Q15526-1]

Organism-specific databases

CTD6834.
GeneCardsGC09M136218.
HGNCHGNC:11474. SURF1.
HPACAB033946.
HPA021029.
MIM185620. gene.
256000. phenotype.
neXtProtNX_Q15526.
Orphanet1561. Fatal infantile cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
255241. Leigh syndrome with leukodystrophy.
PharmGKBPA36259.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3346.
HOGENOMHOG000097776.
HOVERGENHBG058486.
InParanoidQ15526.
KOK14998.
OMATWQVKRR.
OrthoDBEOG7VQJF0.
PhylomeDBQ15526.
TreeFamTF314684.

Gene expression databases

ArrayExpressQ15526.
BgeeQ15526.
CleanExHS_SURF1.
GenevestigatorQ15526.

Family and domain databases

InterProIPR002994. Surf1/Shy1.
[Graphical view]
PANTHERPTHR23427:SF2. PTHR23427:SF2. 1 hit.
PfamPF02104. SURF1. 1 hit.
[Graphical view]
PROSITEPS50895. SURF1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSURF1.
GenomeRNAi6834.
NextBio26679.
PROQ15526.
SOURCESearch...

Entry information

Entry nameSURF1_HUMAN
AccessionPrimary (citable) accession number: Q15526
Secondary accession number(s): Q5T8T3, Q5T8T4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM