SURF1 - SURF1 cytochrome c oxidase assembly factor Gene

Also Known as SHY1; CMT4K; MC4DN1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6834

About SURF1

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,351,758-133,356,487 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 194 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 18.7), kidney (RPKM 18.3) and 25 other tissues.

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 rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]

SURF1 Products (2)

mRNA	Protein	Name
NM_001280787.1	NP_001267716.1	surfeit locus protein 1 isoform 2
NM_003172.4	NP_003163.1	surfeit locus protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23260140	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	24027061	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SURF1 Protein Structure

SURF1

0
100
200
300 a.a.

Protein Preferred Names	Protein Names
surfeit locus protein 1	surfeit 1

SURF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SURF1	Q15526	COA3	Homo sapiens	Q9Y2R0	Anti Tag CoIP	23260140

Cross: Cross-species interaction Intra: Intraspecies interaction

SURF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810931	SURF1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Type 4k	Charcot-Marie-Tooth Disease Type 4k CMT4K Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k Surf1-Related Charcot-Marie-Tooth Disease Type 4 Surf1-Related Cmt4 Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k Charcot-Marie-Tooth Disease 4k Charcot-Marie-Tooth Disease, Demyelinating, Type 4k Charcot-Marie-Tooth Neuropathy, Type 4k
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Leigh Syndrome With Cardiomyopathy	Cardiomyopathy With Hypotonia Due To Cytochrome C Oxidase Deficiency Cardiomyopathy With Myopathy Due To Cox Deficiency Leigh Disease With Myopathy
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Neuropathy, Ataxia, And Retinitis Pigmentosa	Narp Syndrome NARP Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome Neuropathy, Ataxia And Retinitis Pigmentosa Neuropathy Ataxia Retinitis Pigmentosa Syndrome Neuropathy, Ataxia, And Retinitis Pigmentos Neuropathy Ataxia And Retinitis Pigmentosa Neuropathy, Ataxia, Retinitis Pigmentosa Neuropathy Ataxia And Retinis Pigmentosa Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
Hypertrichosis
46,Xy Sex Reversal 7	SRXY7 46,Xy Sex Reversal, Partial Or Complete, Dhh-Related 46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related Gdxym Gonadal Dysgenesis, Xy, Male-Limited 46xy Sex Reversal 7 Gonadal Dysgenesis, Xy, Male Limited Complete Pure Gonadal Dysgenesis 46,Xy Type Male-Limited Gonadal Dysgenesis 46,Xy 46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
Leukodystrophy	Leukodystrophies
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Dystonia 24	DYT24 Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement Dystonia-24 Dystonia, Type 24
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Deafness, Dystonia, And Cerebral Hypomyelination	Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome DDCH Cadds Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome Contiguous Abcd1 Dxs1357e Deletion Syndrome Zellweger-Like Contiguous Gene Deletion Syndrome Contiguous Abcd1/Dxs1375e Deletion Syndrome Deafness, Dystonia, Cerebral Hypomyelination Contiguous Abcd1-Dxs1375e Deletion Syndrome
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Encephalopathy, Ethylmalonic	Ethylmalonic Encephalopathy EE Epema Syndrome Encephalopathy, Petechiae, And Ethylmalonic Aciduria Ethe1 Deficiency Eme Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Mitochondrial Complex Ii Deficiency	Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency Isolated Succinate-Coenzyme Q Reductase Deficiency Isolated Succinate-Coq Reductase Deficiency Isolated Succinate-Ubiquinone Reductase Deficiency Mitochondrial Respiratory Chain Complex Ii Deficiency Complex 2 Mitochondrial Respiratory Chain Deficiency Succinate Coq Reductase Deficiency Succinate Dehydrogenase Deficiency Isolated Succinate Dehydrogenase Deficiency Succinate-Coenzyme Q Reductase Deficiency
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14042	SURF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SURF1	MGD	MGI:98443
Rattus norvegicus	SURF1	RGD	RGD:620527
Bos taurus	SURF1	VGNC	VGNC:106961
Canis familiaris	SURF1	VGNC	VGNC:46994
Macaca mulatta	SURF1	VGNC	VGNC:78058
Felis catus	SURF1	VGNC	VGNC:102988
Others	SURF1	NCBI