SURF1
entrez
6834
canonical
uniprot
Q15526
canonical
ensembl
ENSG00000148290
resolver
ensembl
ENSG00000280627
resolver
ensp
ENSP00000361042
resolver
ensp
ENSP00000482067
resolver
ensp
ENSP00000486289
resolver
enst
ENST00000615505
resolver
enst
ENST00000628258
resolver
genesymbol
SURF1
resolver
genesymbol_syn
SURF-1
resolver
hgnc
HGNC:11474
resolver
uniprot
A0A087WYS9
resolver
uniprot
E5KRX5
resolver
uniprot
Q5T8T3
resolver
uniprot
Q5T8T4
resolver
uniprot_entry
A0A087WYS9_HUMAN
resolver
uniprot_entry
E5KRX5_HUMAN
resolver
uniprot_entry
SURF1_HUMAN
resolver
uniprot_sec
Q5T8T3
resolver
uniprot_sec
Q5T8T4
resolver
amino_acid_sequence
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) [MIM:220110]: An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure. {ECO:0000269|PubMed:10558868, ECO:0000269|PubMed:10647889, ECO:0000269|PubMed:10746561, ECO:0000269|PubMed:11317352, ECO:0000269|PubMed:14564068, ECO:0000269|PubMed:16120373, ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:22410471, ECO:0000269|PubMed:22488715, ECO:0000269|PubMed:26443249, ECO:0000269|PubMed:29715184, ECO:0000269|PubMed:29933018, ECO:0000269|PubMed:9843204}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 4K (CMT4K) [MIM:616684]: 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. {ECO:0000269|PubMed:24027061}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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|PubMed:26321642}.
uniprot
proteins
mass_dalton
33331
uniprot
proteins
protein_family
SURF1 family
uniprot
proteins
pubmed
10558868
uniprot
proteins
pubmed
10647889
uniprot
proteins
pubmed
10746561
uniprot
proteins
pubmed
11317352
uniprot
proteins
pubmed
14564068
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16120373
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21937992
uniprot
proteins
pubmed
22410471
uniprot
proteins
pubmed
22488715
uniprot
proteins
pubmed
24027061
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26321642
uniprot
proteins
pubmed
26443249
uniprot
proteins
pubmed
29715184
uniprot
proteins
pubmed
29933018
uniprot
proteins
pubmed
7702754
uniprot
proteins
pubmed
9843204
uniprot
proteins
sequence_length
300
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P09925}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 61..79; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 274..290; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins