SURF1

Protein identityUniProt · HPA

UniProt accession

Q15526

Gene

SURF1

Ensembl

ENSG00000148290

Chromosome

9

Canonical length

300 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

300 residues, UniProt reviewed canonical sequence.

>Q15526|SURF1
     1  MAAVAALQLG LRAAGLGRAP ASAAWRSVLR VSPRPGVAWR PSRCGSSAAE ASATKAEDDS
    61  FLQWVLLLIP VTAFGLGTWQ VQRRKWKLNL IAELESRVLA EPVPLPADPM ELKNLEYRPV
   121  KVRGCFDHSK ELYMMPRTMV DPVREAREGG LISSSTQSGA YVVTPFHCTD LGVTILVNRG
   181  FVPRKKVNPE TRQKGQIEGE VDLIGMVRLT ETRQPFVPEN NPERNHWHYR DLEAMARITG
   241  AEPIFIDANF QSTVPGGPIG GQTRVTLRNE HLQYIVTWYG LSAATSYLWF KKFLRGTPGV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SURF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

90 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SURF1.

Disease | AllUniProt

Conditions SURF1 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1) MIM:220110
• Charcot-Marie-Tooth disease, demyelinating, type 4K (CMT4K) MIM:616684

Disease | GeneticClinVar

178 pathogenic / likely-pathogenic of 815 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Leigh syndrome
• Mitochondrial complex IV deficiency, nuclear type 1
• Charcot-Marie-Tooth disease type 4K
• Inborn genetic diseases
• SURF1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.72

gnomAD pLI

0

gnomAD missense Z

-0.68

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aerobic respiration
• mitochondrial respiratory chain complex IV assembly
• respiratory chain complex IV assembly

Molecular functions

• cytochrome-c oxidase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex

Protein domainsUniProt · Pfam · InterPro

• Surfeit locus 1/4
• Surfeit locus 1/Shy1
• SURF1 family

KeywordsUniProt

• Charcot-Marie-Tooth disease
• Leigh syndrome
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Neurodegeneration
• Neuropathy
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SURF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COA3