Entity Details

Primary name SURF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15526
EntryNameSURF1_HUMAN
FullNameSurfeit locus protein 1
TaxID9606
Evidenceevidence at protein level
Length300
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesSURF1

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005746 mitochondrial respirasome
GO:0006119 oxidative phosphorylation
GO:0008535 respiratory chain complex IV assembly
GO:0009060 aerobic respiration
GO:0016021 integral component of membrane
GO:0033617 mitochondrial cytochrome c oxidase assembly

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR002994 Surfeit locus 1/Shy1FamilyFamily

Diseases

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Disease IDSourceNameDescription
220110 OMIMMitochondrial complex IV deficiency (MT-C4D)A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. The disease is caused by variants affecting the gene represented in this entry.
616684 OMIMCharcot-Marie-Tooth disease 4K (CMT4K)An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
SURF1_HUMANTEBP_HUMANBioGRID, IntAct21988832 details
SURF1_HUMANCOA3_HUMANBioGRID, IntAct23260140 32877691 details