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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6834
Gene name Gene Name - the full gene name approved by the HGNC.	SURF1 cytochrome c oxidase assembly factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SURF1
Synonyms (NCBI Gene) Gene synonyms aliases	CMT4K, MC4DN1, SHY1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth disease type 4K	rs1057517942, rs782726390, rs864309500, rs782490558, rs764928653, rs782190413	N/A
leigh syndrome	Leigh syndrome	rs782349178, rs1410388157, rs1588691786, rs1391748504, rs1244071473, rs863224228, rs1057517942, rs1554768333, rs1588693841, rs863224229, rs1053850536, rs121918657, rs1363125797, rs863224926, rs1057520688 View all (21 more)	N/A
Cardioencephalomyopathy	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	rs782349178	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs782190413, rs121918657	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mitochondrial Complex Deficiency	mitochondrial complex IV deficiency, nuclear type 1	N/A	N/A	GenCC

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)