SURF1
Sign in to saveAlso known as CMT4K, surfeit 1, SURF1, cytochrome c oxidase assembly factor, SURF1 cytochrome c oxidase assembly factor, MC4DN1, SHY1
Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene. The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex (MITRAC complex), which is involved in the regulation of cytochrome c oxidase assembly. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase (complex IV) deficiency, and Charcot-Marie-Tooth disease 4K (CMT4K).
In the Vinony graph
Vinony's link graph records 8 inbound references to SURF1, and connects out to PubMed, human chromosome 9 and Ensembl genome database project.
Vinony files it under Genes on human chromosome 9 and Source attribution.
Vinony links it to 5 Wikipedia language editions.
Gene data
SURF1- Name
- SURF1 cytochrome c oxidase assembly factor
- Type
- protein-coding
- Position
- 133,351,069–133,356,676 (−)
- Aliases
- CMT4K, MC4DN1, SHY1
- Ensembl
- ENSG00000280627
- RefSeq RNA
- NM_001280787.1, NM_003172.4
- RefSeq protein
- NP_001267716.1, NP_003163.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
SURF1 cytochrome c oxidase assembly factor
- Symbol
- SURF1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:133,351,069-133,356,676
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 2387
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6834
- genomic end
- 136223552
- genomic start
- 133351758
- chromosome
- human chromosome 9
- cytogenetic location
- 9q34.2
Sources (6)
via Wikidata · CC0
~6 min read
Encyclopedic overview
9 sectionsContents
- Structure
- Function
- Clinical significance
- Mitochondrial complex IV deficiency
- Leigh syndrome
- Charcot-Marie-Tooth disease 4K (CMT4K)
- Interactions
- References
- Further reading
Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene. The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex (MITRAC complex), which is involved in the regulation of cytochrome c oxidase assembly. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase (complex IV) deficiency, and Charcot-Marie-Tooth disease 4K (CMT4K).
== Structure == SURF1 is located on the q arm of chromosome 9 in position 34.2 and has 9 exons. The SURF1 gene produces a 33.3 kDa protein composed of 300 amino acids. 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. SURF1 is a multi-pass protein that contains two transmembrane regions, one 19 amino acids in length from positions 61-79 and the other 17 amino acids in length from positions 274–290.
Excerpted from Wikipedia’s “SURF1” article, available under the CC BY-SA 4.0 licence.