Q15526 (SURF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Surfeit locus protein 1

Gene names

Name:	SURF1
Synonyms:	SURF-1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	300 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Leigh syndrome
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP biosynthetic process Inferred from mutant phenotype PubMed 20888800. Source: BHF-UCL aerobic respiration Traceable author statement Ref.5. Source: ProtInc oxidative phosphorylation Inferred from mutant phenotype PubMed 20888800. Source: BHF-UCL respiratory chain complex IV assembly Traceable author statement Ref.5. Source: ProtInc
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial respiratory chain Traceable author statement Ref.5. Source: ProtInc
Molecular_function	cytochrome-c oxidase activity Traceable author statement Ref.5. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 300	300	Surfeit locus protein 1		PRO_0000215652
Regions
	Transmembrane	61 – 79	19	Helical; Potential
	Transmembrane	274 – 290	17	Helical; Potential
Natural variations
	Alternative sequence	173 – 184	12	Missing in isoform 2.		VSP_034817
	Natural variant	56	1	A → G Found in a patient with LS; unknown pathological significance. Ref.13 Corresponds to variant rs116779216 [ dbSNP | Ensembl ].		VAR_068648
	Natural variant	89	1	N → K in a breast cancer sample; somatic mutation. Ref.10		VAR_036340
	Natural variant	90	1	L → P in LS. Ref.13		VAR_068649
	Natural variant	124	1	G → E in LS. Ref.7 Corresponds to variant rs28933402 [ dbSNP | Ensembl ].		VAR_007450
	Natural variant	124	1	G → R in LS.		VAR_015258
	Natural variant	177	1	V → G in LS. Ref.13		VAR_068650
	Natural variant	202	1	D → H. Ref.7 Corresponds to variant rs72619327 [ dbSNP | Ensembl ].		VAR_007451
	Natural variant	205	1	G → E in LS. Ref.13		VAR_068651
	Natural variant	227	1	W → R in LS; unknown pathological significance. Ref.11		VAR_068682
	Natural variant	235	1	M → T in LS. Ref.9		VAR_068652
	Natural variant	246	1	I → T in LS. Ref.7		VAR_007452
	Natural variant	248	1	A → D in LS. Ref.12		VAR_068653
	Natural variant	257	1	G → R in LS. Ref.13		VAR_068654
	Natural variant	274	1	Y → D in LS. Ref.8		VAR_015259

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: EC890EA48A0EDE7A	FASTA	300	33,331
	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
	Isoform 2 [UniParc]. Checksum: FF30182CA2C1EE6C	FASTA	288	31,979
	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 LGKKVNPETR 190 200 210 220 230 240 QKGQIEGEVD LIGMVRLTET RQPFVPENNP ERNHWHYRDL EAMARITGAE PIFIDANFQS 250 260 270 280 TVPGGPIGGQ TRVTLRNEHL QYIVTWYGLS AATSYLWFKK FLRGTPGV

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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., Puttmann L., Vahid L.N., Jensen C., Moheb L.A., Bienek M., Larti F. , 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.
IPI	IPI00018034. IPI00642942.
PIR	S57749.
RefSeq	NP_003163.1. NM_003172.2.
UniGene	Hs.512464.
3D structure databases
ProteinModelPortal	Q15526.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15526. 1 interaction.
STRING	9606.ENSP00000361042.
PTM databases
PhosphoSite	Q15526.
Polymorphism databases
DMDM	2498973.
Proteomic databases
PaxDb	Q15526.
PRIDE	Q15526.
Protocols and materials databases
DNASU	6834.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371974; ENSP00000361042; ENSG00000148290. ENST00000437995; ENSP00000397093; ENSG00000148290. ENST00000563547; ENSP00000458055; ENSG00000260692. ENST00000564539; ENSP00000456408; ENSG00000260692.
GeneID	6834.
KEGG	hsa:6834.
UCSC	uc004cdh.1. human.
Organism-specific databases
CTD	6834.
GeneCards	GC09M136218.
HGNC	HGNC:11474. SURF1.
HPA	HPA021029.
MIM	185620. gene. 256000. phenotype.
neXtProt	NX_Q15526.
Orphanet	1561. Fatal infantile cytochrome C oxidase deficiency. 70474. Leigh syndrome with cardiomyopathy. 255241. Leigh syndrome with leukodystrophy.
PharmGKB	PA36259.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG3346.
HOGENOM	HOG000097776.
HOVERGEN	HBG058486.
InParanoid	Q15526.
KO	K14998.
OMA	TWQVKRR.
OrthoDB	EOG4BZN3D.
PhylomeDB	Q15526.
Gene expression databases
ArrayExpress	Q15526.
Bgee	Q15526.
CleanEx	HS_SURF1.
Genevestigator	Q15526.
GermOnline	ENSG00000148290. Homo sapiens.
Family and domain databases
InterPro	IPR002994. Surf1/Shy1. [Graphical view]
PANTHER	PTHR23427:SF2. PTHR23427:SF2. 1 hit.
Pfam	PF02104. SURF1. 1 hit. [Graphical view]
PROSITE	PS50895. SURF1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6834.
NextBio	26679.
SOURCE	Search...

Entry information

Entry name

SURF1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 113 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.