Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6834
Gene name	SURF1 cytochrome c oxidase assembly factor
Gene symbol	SURF1
Synonyms (NCBI Gene)	CMT4KMC4DN1SHY1
Chromosome	9
Chromosome location	9q34.2
Summary	This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rick

Show/Hide all (39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933402	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918657	G>A	Pathogenic	Coding sequence variant, stop gained
rs121918658	A>C	Pathogenic	Coding sequence variant, missense variant
rs147816470	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs200702528	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs373551988	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs375398247	A>C,G	Pathogenic	Intron variant
rs398122806	A>G	Pathogenic	Missense variant, coding sequence variant
rs587753385	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs781787822	A>C,G	Pathogenic	Splice donor variant
rs781934508	C>A,T	Likely-pathogenic	Intron variant
rs782007828	CTCT>-,CT	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs782061187	->A	Pathogenic	Coding sequence variant, stop gained
rs782190413	G>A	Pathogenic	Coding sequence variant, missense variant
rs782289759	->CAGG	Pathogenic	Coding sequence variant, frameshift variant
rs782316919	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs782349178	TG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs782488388	->AGATGC	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe insertion
rs782490558	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs782609482	C>A,T	Pathogenic	Splice donor variant
rs782623477	G>A	Pathogenic	Coding sequence variant, stop gained
rs782682492	T>C	Pathogenic	Splice acceptor variant
rs782788600	->ACTGCAGATGCTCGT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs863224227	C>A	Pathogenic	Splice acceptor variant
rs863224230	GGT>AGG	Likely-pathogenic	Coding sequence variant, missense variant
rs864309500	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1053850536	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057517942	TTTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520688	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691894	GGT>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1242159511	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1391748504	C>G	Pathogenic	Splice acceptor variant
rs1554768236	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554768246	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554768333	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1564349087	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1564349176	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588688823	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588689993	CT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments
MIRT2121084	hsa-miR-214	CLIP-seq
MIRT2121085	hsa-miR-3158-3p	CLIP-seq
MIRT2121086	hsa-miR-3619-5p	CLIP-seq
MIRT2121087	hsa-miR-4291	CLIP-seq
MIRT2121088	hsa-miR-4685-5p	CLIP-seq
MIRT2121089	hsa-miR-646	CLIP-seq
MIRT2121090	hsa-miR-761	CLIP-seq
MIRT2121091	hsa-miR-922	CLIP-seq
MIRT2343020	hsa-miR-200b	CLIP-seq
MIRT2343021	hsa-miR-200c	CLIP-seq
MIRT2343022	hsa-miR-203	CLIP-seq
MIRT2121084	hsa-miR-214	CLIP-seq
MIRT2343023	hsa-miR-217	CLIP-seq
MIRT2121085	hsa-miR-3158-3p	CLIP-seq
MIRT2121086	hsa-miR-3619-5p	CLIP-seq
MIRT2343024	hsa-miR-429	CLIP-seq
MIRT2121087	hsa-miR-4291	CLIP-seq
MIRT2343025	hsa-miR-4418	CLIP-seq
MIRT2343026	hsa-miR-4635	CLIP-seq
MIRT2121088	hsa-miR-4685-5p	CLIP-seq
MIRT2343027	hsa-miR-509-3-5p	CLIP-seq
MIRT2343028	hsa-miR-509-5p	CLIP-seq
MIRT2121089	hsa-miR-646	CLIP-seq
MIRT2121090	hsa-miR-761	CLIP-seq
MIRT2121091	hsa-miR-922	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
MYC	Activation	10858544
YY1	Activation	10858544;7607503
YY1	Unknown	9278494

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	IEA
GO:0005515	Function	Protein binding	IPI	23260140, 26321642
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0008535	Process	Respiratory chain complex IV assembly	TAS	9843204
GO:0009060	Process	Aerobic respiration	TAS	9843204
GO:0016020	Component	Membrane	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IBA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	24027061
GO:0098803	Component	Respiratory chain complex	TAS	9843204
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
185620	11474	ENSG00000148290

Q15526

Protein name

Surfeit locus protein 1

Protein function

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO:0000269|PubMed:24027061, ECO:0000269|PubMed:9843204, ECO:0000305|Pub

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02104	SURF1	68 → 283	SURF1 family	Family

Sequence

MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDS
FLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPV
KVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRG
FVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV

Sequence length

300

Interactions

View interactions

	Reactome
			TP53 Regulates Metabolic Genes Respiratory electron transport

834

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal pyramidal sign	Pathogenic	rs782316919	RCV000626844
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Pathogenic	rs782349178	RCV005208136
Cerebellar ataxia	Pathogenic	rs782316919	RCV000626844
Charcot-Marie-Tooth disease type 4K	Pathogenic; Likely pathogenic	rs2119083553, rs782021521, rs781954439, rs782542152, rs945343783, rs2490619353, rs781828424, rs2490613891, rs782490558, rs782190413, rs863224228, rs863224229, rs782726390, rs864309500, rs147816470 View all (18 more)	RCV002501874 RCV002503285 RCV005042510 RCV005042517 RCV005045225 RCV005050721 RCV005045335 RCV005042938 RCV001813769 RCV000202523 RCV002478694 RCV002492908 RCV000202482 RCV000202439 RCV005044488 RCV005049509 RCV005047534 RCV005042037 RCV000500935 RCV005047669 RCV005051338 RCV005047710 RCV004690452 RCV005431644 RCV005040587 RCV002244861 RCV003447527 RCV002502493 RCV002489153 RCV005044741 RCV005044749 RCV002289700 RCV000662348
Dysarthria	Pathogenic	rs782316919	RCV000626844
Hepatocellular carcinoma	Pathogenic	rs147816470	RCV005890956
Leigh syndrome	Pathogenic; Likely pathogenic	rs2119083553, rs2119081217, rs2119085025, rs2119079745, rs782021521, rs2119088472, rs2119085074, rs781954439, rs782542152, rs2119085056, rs782420522, rs1333638410, rs2119079909, rs2119083367, rs1836590086 View all (79 more)	RCV001775175 RCV001775299 RCV001775414 RCV001779460 RCV001797902 RCV001891793 RCV001889122 RCV001926040 RCV001947811 RCV001878042 RCV001902056 RCV001975167 RCV002010885 RCV002007158 RCV002002511 RCV002027283 RCV002222921 RCV002240096 RCV002240097 RCV002281857 RCV003060711 RCV003058239 RCV003062240 RCV003075102 RCV003079101 RCV002585428 RCV002632699 RCV002650257 RCV002725798 RCV002801572 RCV000534608 RCV000631410 RCV000235063 RCV000258857 RCV000196131 RCV002979667 RCV001804940 RCV003619818 RCV003155662 RCV000235079 RCV000631405 RCV003619837 RCV000589222 RCV001851829 RCV000331329 RCV003510580 RCV003510684 RCV003510923 RCV003511208 RCV003511266 RCV003511460 RCV003511461 RCV003511462 RCV003511463 RCV003509454 RCV003510251 RCV003510179 RCV003620051 RCV003620794 RCV003621048 RCV003621060 RCV003621063 RCV003621003 RCV003621292 RCV003621468 RCV003619152 RCV003619208 RCV003619396 RCV003620271 RCV000312508 RCV003620429 RCV003840984 RCV003864153 RCV003877555 RCV000586290 RCV001290556 RCV003619671 RCV001260417 RCV001379593 RCV001193160 RCV002469177 RCV000560693 RCV000543189 RCV000578241 RCV000587221 RCV000754102 RCV000754104 RCV003155251 RCV000662348 RCV000735985 RCV001242611 RCV000785948 RCV000790941 RCV000797278 RCV000988283 RCV000988284 RCV001051443 RCV001261540 RCV001193157 RCV001193158 RCV001215424
Leigh syndrome due to mitochondrial complex IV deficiency	Pathogenic	rs782316919	RCV000500935
Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic; Likely pathogenic	rs2119083553, rs782767225, rs782021521, rs781954439, rs782542152, rs945343783, rs2490619353, rs781828424, rs2490613891, rs782490558, rs782190413, rs863224228, rs863224229, rs864309500, rs2119079774 View all (43 more)	RCV002501874 RCV001806262 RCV002246514 RCV005042510 RCV003136303 RCV005045225 RCV005050721 RCV005045335 RCV005042938 RCV000013605 RCV002492907 RCV000013596 RCV002492908 RCV003389322 RCV003110134 RCV003110135 RCV003110136 RCV003110137 RCV003110138 RCV003110151 RCV003110159 RCV003110167 RCV003110168 RCV003110169 RCV003110170 RCV003110171 RCV003159265 RCV005044488 RCV005049509 RCV003330155 RCV000013595 RCV000013599 RCV000013601 RCV000013602 RCV000013603 RCV000013606 RCV000013607 RCV000013608 RCV005047669 RCV005051338 RCV005047710 RCV003338577 RCV005040587 RCV003988901 RCV003989989 RCV004594971 RCV001849366 RCV004584703 RCV002502493 RCV000022780 RCV002489153 RCV002272252 RCV005044741 RCV005044749 RCV003147496 RCV002248820 RCV002272341 RCV005232022 RCV001260238
Mitochondrial disease	Likely pathogenic; Pathogenic	rs782190413, rs121918657	RCV003314575 RCV003314553
Muscle weakness	Pathogenic	rs782316919	RCV000626844
Ovarian serous cystadenocarcinoma	Pathogenic	rs782682492	RCV005897395
See cases	Likely pathogenic; Pathogenic	rs1836455411, rs782316919, rs759270179, rs764928653	RCV003128480 RCV002251902 RCV003128413 RCV003128406
SURF1-related disorder	Likely pathogenic; Pathogenic	rs1836590782, rs863224228, rs147816470, rs782316919, rs1588691786	RCV004758881 RCV004554746 RCV004554757 RCV004554601 RCV004554825

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs200702528	RCV005893554
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs200702528	RCV005893555
Lung cancer	Conflicting classifications of pathogenicity	rs200702528	RCV005893556
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs141425824	RCV005907154
Uterine corpus endometrial carcinoma	Uncertain significance	rs373355971	RCV005913552

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	24027061
Acidosis Lactic	Associate	24027061
Basal Ganglia Diseases	Associate	34716721
Brain Stem Neoplasms	Associate	12169463
Carcinoma Basal Cell	Associate	12169463
Cerebellar Ataxia	Associate	24027061
Charcot Marie Tooth disease Type 4A	Associate	24027061
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	39289458
Copper deficiency familial benign	Associate	19295170
Cytochrome c Oxidase Deficiency	Associate	11278850, 11279059, 11782424, 12169463, 12812953, 12943968, 15306853, 17908801, 22465034, 24462369, 34627336, 39289458
Demyelinating Diseases	Associate	11279059, 24027061, 27020842
Heredodegenerative Disorders Nervous System	Associate	11782424
Immunologic Deficiency Syndromes	Associate	25629267
Leigh Disease	Associate	11279059, 11782424, 12169463, 12812953, 12943968, 15269007, 15306853, 17908801, 18582433, 18778816, 19772191, 22465034, 29715184, 33771987, 34627336 View all (5 more)
Leigh syndrome French Canadian type	Associate	19772191, 22465034
Mitochondrial Diseases	Associate	15764605, 24027061
Mitral Valve Insufficiency	Associate	12169463
Mouth Diseases	Associate	12169463
Nervous System Diseases	Associate	15306853, 24027061
Neuralgia	Associate	27020842
Neurodegenerative Diseases	Associate	18582433
Peripheral Nervous System Diseases	Associate	27020842
Polyneuropathies	Associate	24027061, 27020842
Putaminal Hemorrhage	Associate	24027061
Seizures	Associate	24462369

SURF1 (SURF1 cytochrome c oxidase assembly factor)