SURF1_HUMAN
ID SURF1_HUMAN Reviewed; 300 AA.
AC Q15526; Q5T8T3; Q5T8T4;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Surfeit locus protein 1;
GN Name=SURF1; Synonyms=SURF-1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7702754; DOI=10.1089/dna.1994.13.1117;
RA Lennard A., Gaston K., Fried M.;
RT "The Surf-1 and Surf-2 genes and their essential bidirectional promoter
RT elements are conserved between mouse and human.";
RL DNA Cell Biol. 13:1117-1126(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon, Kidney, Skin, and Stomach;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP POSSIBLE FUNCTION, AND INVOLVEMENT IN MC4DN1.
RX PubMed=9843204; DOI=10.1038/3804;
RA Zhu Z., Yao J., Johns T., Fu K., de Bie I., Macmillan C., Cuthbert A.P.,
RA Newbold R.F., Wang J., Chevrette M., Brown G.K., Brown R.M.,
RA Shoubridge E.A.;
RT "SURF1, encoding a factor involved in the biogenesis of cytochrome c
RT oxidase, is mutated in Leigh syndrome.";
RL Nat. Genet. 20:337-343(1998).
RN [6]
RP REVIEW ON MC4DN1 VARIANTS.
RX PubMed=11317352; DOI=10.1002/humu.1112.abs;
RA Pequignot M.O., Dey R., Zeviani M., Tiranti V., Godinot C., Poyau A.,
RA Sue C., Di Mauro S., Abitbol M., Marsac C.;
RT "Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome
RT C oxidase deficiency.";
RL Hum. Mutat. 17:374-381(2001).
RN [7]
RP FUNCTION, AND INTERACTION WITH COA3.
RX PubMed=26321642; DOI=10.1016/j.celrep.2015.08.009;
RA Dennerlein S., Oeljeklaus S., Jans D., Hellwig C., Bareth B., Jakobs S.,
RA Deckers M., Warscheid B., Rehling P.;
RT "MITRAC7 acts as a COX1-specific chaperone and reveals a checkpoint during
RT cytochrome c oxidase assembly.";
RL Cell Rep. 12:1644-1655(2015).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [9]
RP VARIANTS MC4DN1 GLU-124 AND THR-246, AND VARIANT HIS-202.
RX PubMed=10746561; DOI=10.1007/s004390051028;
RA Poyau A., Buchet K., Bouzidi M.F., Zabot M.-T., Echenne B., Yao J.,
RA Shoubridge E.A., Godinot C.;
RT "Missense mutations in SURF1 associated with deficient cytochrome c oxidase
RT assembly in Leigh syndrome patients.";
RL Hum. Genet. 106:194-205(2000).
RN [10]
RP VARIANT MC4DN1 ASP-274.
RX PubMed=10647889; DOI=10.1007/s004399900191;
RA Teraoka M., Yokoyama Y., Ninomiya S., Inoue C., Yamashita S., Seino Y.;
RT "Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase
RT deficiency.";
RL Hum. Genet. 105:560-563(1999).
RN [11]
RP VARIANT MC4DN1 THR-235.
RX PubMed=14564068;
RA Piekutowska-Abramczuk D., Popowska E., Pronicka E., Karczmarewicz E.,
RA Pronicki M., Kmiec T., Krajewska-Walasek M.;
RT "SURF1 gene mutations in Polish patients with COX-deficient Leigh
RT syndrome.";
RL J. Appl. Genet. 42:103-108(2001).
RN [12]
RP DEVELOPMENTAL STAGE, VARIANTS MC4DN1 GLU-124 AND THR-246, VARIANT HIS-202,
RP CHARACTERIZATION OF VARIANTS MC4DN1 GLU-124 AND THR-246, AND
RP CHARACTERIZATION OF VARIANT HIS-202.
RX PubMed=16120373; DOI=10.1016/j.mito.2004.05.004;
RA Dubot A., Hervouet E., Mandon G., Zabot M.T., Godinot C.;
RT "Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh
RT syndrome. Importance in diagnosis.";
RL Mitochondrion 4:41-47(2004).
RN [13]
RP VARIANT [LARGE SCALE ANALYSIS] LYS-89.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [14]
RP VARIANT MC4DN1 ARG-227.
RX PubMed=21937992; DOI=10.1038/nature10423;
RA Najmabadi H., Hu H., Garshasbi M., Zemojtel T., Abedini S.S., Chen W.,
RA Hosseini M., Behjati F., Haas S., Jamali P., Zecha A., Mohseni M.,
RA Puettmann L., Vahid L.N., Jensen C., Moheb L.A., Bienek M., Larti F.,
RA Mueller I., Weissmann R., Darvish H., Wrogemann K., Hadavi V.,
RA Lipkowitz B., Esmaeeli-Nieh S., Wieczorek D., Kariminejad R.,
RA Firouzabadi S.G., Cohen M., Fattahi Z., Rost I., Mojahedi F., Hertzberg C.,
RA Dehghan A., Rajab A., Banavandi M.J., Hoffer J., Falah M., Musante L.,
RA Kalscheuer V., Ullmann R., Kuss A.W., Tzschach A., Kahrizi K., Ropers H.H.;
RT "Deep sequencing reveals 50 novel genes for recessive cognitive
RT disorders.";
RL Nature 478:57-63(2011).
RN [15]
RP VARIANT MC4DN1 ASP-248.
RX PubMed=22410471; DOI=10.1016/j.braindev.2012.02.007;
RA Tanigawa J., Kaneko K., Honda M., Harashima H., Murayama K., Wada T.,
RA Takano K., Iai M., Yamashita S., Shimbo H., Aida N., Ohtake A., Osaka H.;
RT "Two Japanese patients with Leigh syndrome caused by novel SURF1
RT mutations.";
RL Brain Dev. 34:861-865(2012).
RN [16]
RP VARIANTS MC4DN1 GLY-56; PRO-90; GLY-177; GLU-205 AND ARG-257.
RX PubMed=22488715; DOI=10.1002/humu.22095;
RA Lee I.C., El-Hattab A.W., Wang J., Li F.Y., Weng S.W., Craigen W.J.,
RA Wong L.J.;
RT "SURF1-associated leigh syndrome: A case series and novel mutations.";
RL Hum. Mutat. 33:1192-1200(2012).
RN [17]
RP VARIANT CMT4K TRP-192, AND FUNCTION.
RX PubMed=24027061; DOI=10.1212/wnl.0b013e3182a4a518;
RA Echaniz-Laguna A., Ghezzi D., Chassagne M., Mayencon M., Padet S.,
RA Melchionda L., Rouvet I., Lannes B., Bozon D., Latour P., Zeviani M.,
RA Mousson de Camaret B.;
RT "SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.";
RL Neurology 81:1523-1530(2013).
RN [18]
RP VARIANT MC4DN1 VAL-257.
RX PubMed=26443249;
RA Jazayeri R., Hu H., Fattahi Z., Musante L., Abedini S.S., Hosseini M.,
RA Wienker T.F., Ropers H.H., Najmabadi H., Kahrizi K.;
RT "Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in
RT Recessive Intellectual Disability Associated with Ataxia.";
RL Arch. Iran. Med. 18:670-682(2015).
RN [19]
RP VARIANTS MC4DN1 TYR-178 AND HIS-LEU-GLN-TYR-GLU-270 INS, AND
RP CHARACTERIZATION OF VARIANTS MC4DN1 TYR-178; SER-258 AND
RP HIS-LEU-GLN-TYR-GLU-270 INS.
RX PubMed=29933018; DOI=10.1016/j.gene.2018.06.058;
RA Li Y., Wen S., Li D., Xie J., Wei X., Li X., Liu Y., Fang H., Yang Y.,
RA Lyu J.;
RT "SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations,
RT mutation spectrum, and the functional consequences.";
RL Gene 674:15-24(2018).
RN [20]
RP VARIANT MC4DN1 105-LEU--VAL-300.
RX PubMed=29715184; DOI=10.2478/enr-2018-0013;
RA Danis D., Brennerova K., Skopkova M., Kurdiova T., Ukropec J., Stanik J.,
RA Kolnikova M., Gasperikova D.;
RT "Mutations in SURF1 are important genetic causes of Leigh syndrome in
RT Slovak patients.";
RL Endocrinol. Exp. 52:110-118(2018).
CC -!- FUNCTION: Component of the MITRAC (mitochondrial translation regulation
CC assembly intermediate of cytochrome c oxidase complex) complex, that
CC regulates cytochrome c oxidase assembly. {ECO:0000269|PubMed:24027061,
CC ECO:0000269|PubMed:9843204, ECO:0000305|PubMed:26321642}.
CC -!- SUBUNIT: Component of the MITRAC (mitochondrial translation regulation
CC assembly intermediate of cytochrome c oxidase complex) complex, the
CC core components of this complex being COA3/MITRAC12 and COX14.
CC Interacts with COA3. {ECO:0000269|PubMed:26321642}.
CC -!- INTERACTION:
CC Q15526; Q9Y2R0: COA3; NbExp=6; IntAct=EBI-3915286, EBI-6570446;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:P09925}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q15526-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q15526-2; Sequence=VSP_034817;
CC -!- DEVELOPMENTAL STAGE: Expressed in the fetus (at protein level).
CC {ECO:0000269|PubMed:16120373}.
CC -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1)
CC [MIM:220110]: An autosomal recessive disorder of the mitochondrial
CC respiratory chain characterized by early-onset, rapidly progressive
CC encephalopathy, neurodegeneration, and loss of motor and cognitive
CC skills. Affected individuals show hypotonia, failure to thrive, loss of
CC the ability to sit or walk, poor communication, poor eye contact,
CC oculomotor abnormalities, as well as deafness, ataxia, tremor, and
CC brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions
CC in the basal ganglia. Lactate levels in serum and cerebrospinal fluid
CC are increased. Patient tissues show decreased levels and activity of
CC mitochondrial respiratory complex IV. Death in childhood may occur,
CC often due to central respiratory failure. {ECO:0000269|PubMed:10647889,
CC ECO:0000269|PubMed:10746561, ECO:0000269|PubMed:14564068,
CC ECO:0000269|PubMed:16120373, ECO:0000269|PubMed:21937992,
CC ECO:0000269|PubMed:22410471, ECO:0000269|PubMed:22488715,
CC ECO:0000269|PubMed:26443249, ECO:0000269|PubMed:29715184,
CC ECO:0000269|PubMed:29933018, ECO:0000269|PubMed:9843204}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Charcot-Marie-Tooth disease 4K (CMT4K) [MIM:616684]: An
CC autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease,
CC a disorder of the peripheral nervous system, characterized by
CC progressive weakness and atrophy, initially of the peroneal muscles and
CC later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
CC classified in two main groups on the basis of electrophysiologic
CC properties and histopathology: primary peripheral demyelinating
CC neuropathies (designated CMT1 when they are dominantly inherited) and
CC primary peripheral axonal neuropathies (CMT2). Demyelinating
CC neuropathies are characterized by severely reduced nerve conduction
CC velocities (less than 38 m/sec), segmental demyelination and
CC remyelination with onion bulb formations on nerve biopsy, slowly
CC progressive distal muscle atrophy and weakness, absent deep tendon
CC reflexes, and hollow feet. By convention autosomal recessive forms of
CC demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K
CC patients manifest upper and lower limbs involvement. Some affected
CC individuals have nystagmus and late-onset cerebellar ataxia.
CC {ECO:0000269|PubMed:24027061}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the SURF1 family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Surfeit 1 (SURF1); Note=Leiden Open Variation
CC Database (LOVD);
CC URL="https://databases.lovd.nl/shared/genes/SURF1";
CC ---------------------------------------------------------------------------
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DR EMBL; Z35093; CAA84476.1; -; mRNA.
DR EMBL; AK291122; BAF83811.1; -; mRNA.
DR EMBL; AL158826; CAI12836.1; -; Genomic_DNA.
DR EMBL; AL158826; CAI12837.1; -; Genomic_DNA.
DR EMBL; BC028314; AAH28314.1; -; mRNA.
DR EMBL; BC071658; AAH71658.1; -; mRNA.
DR CCDS; CCDS6966.1; -. [Q15526-1]
DR PIR; S57749; S57749.
DR RefSeq; NP_001267716.1; NM_001280787.1.
DR RefSeq; NP_003163.1; NM_003172.3. [Q15526-1]
DR AlphaFoldDB; Q15526; -.
DR BioGRID; 112701; 196.
DR CORUM; Q15526; -.
DR IntAct; Q15526; 11.
DR STRING; 9606.ENSP00000361042; -.
DR iPTMnet; Q15526; -.
DR MetOSite; Q15526; -.
DR PhosphoSitePlus; Q15526; -.
DR BioMuta; SURF1; -.
DR DMDM; 2498973; -.
DR EPD; Q15526; -.
DR jPOST; Q15526; -.
DR MassIVE; Q15526; -.
DR MaxQB; Q15526; -.
DR PaxDb; Q15526; -.
DR PeptideAtlas; Q15526; -.
DR PRIDE; Q15526; -.
DR ProteomicsDB; 60616; -. [Q15526-1]
DR ProteomicsDB; 60617; -. [Q15526-2]
DR Antibodypedia; 18363; 169 antibodies from 29 providers.
DR DNASU; 6834; -.
DR Ensembl; ENST00000371974.8; ENSP00000361042.3; ENSG00000148290.10. [Q15526-1]
DR Ensembl; ENST00000626663.3; ENSP00000487158.1; ENSG00000280627.3. [Q15526-1]
DR GeneID; 6834; -.
DR KEGG; hsa:6834; -.
DR MANE-Select; ENST00000371974.8; ENSP00000361042.3; NM_003172.4; NP_003163.1.
DR UCSC; uc004cdh.3; human. [Q15526-1]
DR CTD; 6834; -.
DR DisGeNET; 6834; -.
DR GeneCards; SURF1; -.
DR GeneReviews; SURF1; -.
DR HGNC; HGNC:11474; SURF1.
DR HPA; ENSG00000148290; Low tissue specificity.
DR MalaCards; SURF1; -.
DR MIM; 185620; gene.
DR MIM; 220110; phenotype.
DR MIM; 616684; phenotype.
DR neXtProt; NX_Q15526; -.
DR OpenTargets; ENSG00000148290; -.
DR Orphanet; 70474; Leigh syndrome with cardiomyopathy.
DR Orphanet; 255241; Leigh syndrome with leukodystrophy.
DR Orphanet; 391351; SURF1-related Charcot-Marie-Tooth disease type 4.
DR PharmGKB; PA36259; -.
DR VEuPathDB; HostDB:ENSG00000148290; -.
DR eggNOG; KOG1563; Eukaryota.
DR GeneTree; ENSGT00530000064194; -.
DR InParanoid; Q15526; -.
DR OMA; WYSRDVA; -.
DR PhylomeDB; Q15526; -.
DR TreeFam; TF314684; -.
DR PathwayCommons; Q15526; -.
DR Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-9707564; Cytoprotection by HMOX1.
DR SignaLink; Q15526; -.
DR SIGNOR; Q15526; -.
DR BioGRID-ORCS; 6834; 50 hits in 1077 CRISPR screens.
DR GeneWiki; SURF1; -.
DR GenomeRNAi; 6834; -.
DR Pharos; Q15526; Tbio.
DR PRO; PR:Q15526; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q15526; protein.
DR Bgee; ENSG00000148290; Expressed in apex of heart and 107 other tissues.
DR ExpressionAtlas; Q15526; baseline and differential.
DR Genevisible; Q15526; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005746; C:mitochondrial respirasome; TAS:ProtInc.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0004129; F:cytochrome-c oxidase activity; IEA:Ensembl.
DR GO; GO:0009060; P:aerobic respiration; TAS:ProtInc.
DR GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IMP:UniProtKB.
DR GO; GO:0008535; P:respiratory chain complex IV assembly; TAS:ProtInc.
DR CDD; cd06662; SURF1; 1.
DR InterPro; IPR002994; Surf1/Shy1.
DR InterPro; IPR045214; Surf1/Surf4.
DR PANTHER; PTHR23427; PTHR23427; 1.
DR Pfam; PF02104; SURF1; 1.
DR PROSITE; PS50895; SURF1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Charcot-Marie-Tooth disease; Disease variant;
KW Leigh syndrome; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Neurodegeneration; Neuropathy; Primary mitochondrial disease;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..300
FT /note="Surfeit locus protein 1"
FT /id="PRO_0000215652"
FT TRANSMEM 61..79
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 274..290
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 173..184
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_034817"
FT VARIANT 56
FT /note="A -> G (in MC4DN1; benign variant;
FT dbSNP:rs116779216)"
FT /evidence="ECO:0000269|PubMed:22488715"
FT /id="VAR_068648"
FT VARIANT 89
FT /note="N -> K (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036340"
FT VARIANT 90
FT /note="L -> P (in MC4DN1; dbSNP:rs782024654)"
FT /evidence="ECO:0000269|PubMed:22488715"
FT /id="VAR_068649"
FT VARIANT 105..300
FT /note="Missing (in MC4DN1; unknown pathological
FT significance; dbSNP:rs863224228)"
FT /evidence="ECO:0000269|PubMed:29715184"
FT /id="VAR_083393"
FT VARIANT 124
FT /note="G -> E (in MC4DN1; reduced protein stability;
FT dbSNP:rs28933402)"
FT /evidence="ECO:0000269|PubMed:10746561,
FT ECO:0000269|PubMed:16120373"
FT /id="VAR_007450"
FT VARIANT 124
FT /note="G -> R (in MC4DN1; dbSNP:rs782033035)"
FT /id="VAR_015258"
FT VARIANT 177
FT /note="V -> G (in MC4DN1)"
FT /evidence="ECO:0000269|PubMed:22488715"
FT /id="VAR_068650"
FT VARIANT 178
FT /note="N -> Y (in MC4DN1; unknown pathological
FT significance; reduces protein stability; impairs complex IV
FT assembly; dbSNP:rs587753385)"
FT /evidence="ECO:0000269|PubMed:29933018"
FT /id="VAR_083394"
FT VARIANT 192
FT /note="R -> W (in CMT4K; unknown pathological significance;
FT dbSNP:rs782190413)"
FT /evidence="ECO:0000269|PubMed:24027061"
FT /id="VAR_076315"
FT VARIANT 202
FT /note="D -> H (in dbSNP:rs72619327)"
FT /evidence="ECO:0000269|PubMed:10746561,
FT ECO:0000269|PubMed:16120373"
FT /id="VAR_007451"
FT VARIANT 205
FT /note="G -> E (in MC4DN1)"
FT /evidence="ECO:0000269|PubMed:22488715"
FT /id="VAR_068651"
FT VARIANT 227
FT /note="W -> R (in MC4DN1; unknown pathological
FT significance; dbSNP:rs398122806)"
FT /evidence="ECO:0000269|PubMed:21937992"
FT /id="VAR_068682"
FT VARIANT 235
FT /note="M -> T (in MC4DN1; dbSNP:rs1319811735)"
FT /evidence="ECO:0000269|PubMed:14564068"
FT /id="VAR_068652"
FT VARIANT 246
FT /note="I -> T (in MC4DN1)"
FT /evidence="ECO:0000269|PubMed:10746561,
FT ECO:0000269|PubMed:16120373"
FT /id="VAR_007452"
FT VARIANT 248
FT /note="A -> D (in MC4DN1)"
FT /evidence="ECO:0000269|PubMed:22410471"
FT /id="VAR_068653"
FT VARIANT 257
FT /note="G -> R (in MC4DN1)"
FT /evidence="ECO:0000269|PubMed:22488715"
FT /id="VAR_068654"
FT VARIANT 257
FT /note="G -> V (in MC4DN1; dbSNP:rs1030336089)"
FT /evidence="ECO:0000269|PubMed:26443249"
FT /id="VAR_083395"
FT VARIANT 258
FT /note="P -> S (in MC4DN1; unknown pathological
FT significance; reduces protein stability; impairs complex IV
FT assembly)"
FT /evidence="ECO:0000269|PubMed:29933018"
FT /id="VAR_083396"
FT VARIANT 270
FT /note="E -> EHLQYE (in MC4DN1; unknown pathological
FT significance; reduces protein stability; impairs complex IV
FT assembly; ; dbSNP:rs782161777)"
FT /evidence="ECO:0000269|PubMed:29933018"
FT /id="VAR_083397"
FT VARIANT 274
FT /note="Y -> D (in MC4DN1; dbSNP:rs121918658)"
FT /evidence="ECO:0000269|PubMed:10647889"
FT /id="VAR_015259"
SQ SEQUENCE 300 AA; 33331 MW; EC890EA48A0EDE7A CRC64;
MAAVAALQLG LRAAGLGRAP ASAAWRSVLR VSPRPGVAWR PSRCGSSAAE ASATKAEDDS
FLQWVLLLIP VTAFGLGTWQ VQRRKWKLNL IAELESRVLA EPVPLPADPM ELKNLEYRPV
KVRGCFDHSK ELYMMPRTMV DPVREAREGG LISSSTQSGA YVVTPFHCTD LGVTILVNRG
FVPRKKVNPE TRQKGQIEGE VDLIGMVRLT ETRQPFVPEN NPERNHWHYR DLEAMARITG
AEPIFIDANF QSTVPGGPIG GQTRVTLRNE HLQYIVTWYG LSAATSYLWF KKFLRGTPGV
