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SURF1 SURF1, cytochrome c oxidase assembly factor [ Homo sapiens (human) ]

Gene ID: 6834, updated on 5-Aug-2018

Summary

Official Symbol
SURF1provided by HGNC
Official Full Name
SURF1, cytochrome c oxidase assembly factorprovided by HGNC
Primary source
HGNC:HGNC:11474
See related
Ensembl:ENSG00000148290 MIM:185620; Vega:OTTHUMG00000020866
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMT4K
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]
Expression
Ubiquitous expression in thyroid (RPKM 18.7), kidney (RPKM 18.3) and 25 other tissues See more
Orthologs

Genomic context

See SURF1 in Genome Data Viewer
Location:
9q34.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (133351805..133356485, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136218660..136223361, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 36A Neighboring gene ribosomal protein L7a Neighboring gene small nucleolar RNA, C/D box 36C Neighboring gene surfeit 2 Neighboring gene surfeit 4 Neighboring gene serine/threonine kinase like domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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  • Gene Expression, organism-specific biosystem (from REACTOME)
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  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
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  • Metabolism, organism-specific biosystem (from REACTOME)
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  • Respiratory electron transport, organism-specific biosystem (from REACTOME)
    Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
  • Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
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  • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytochrome-c oxidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
aerobic respiration TAS
Traceable Author Statement
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
oxidative phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
respiratory chain complex IV assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
surfeit locus protein 1
Names
surfeit 1
NP_001267716.1
NP_003163.1
XP_011517244.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008477.1 RefSeqGene

    Range
    5001..9702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001280787.1NP_001267716.1  surfeit locus protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001267716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI479876, BE645550, BE905282, Z35093
    Consensus CDS
    CCDS75928.1
    UniProtKB/Swiss-Prot
    Q15526
    UniProtKB/TrEMBL
    A0A087WYS9
    Related
    ENSP00000482067.1, ENST00000615505.4
    Conserved Domains (1) summary
    cd06662
    Location:1179
    SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...
  2. NM_003172.3NP_003163.1  surfeit locus protein 1 isoform 1

    See identical proteins and their annotated locations for NP_003163.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI479876, BE645550, Z35093
    Consensus CDS
    CCDS6966.1
    UniProtKB/Swiss-Prot
    Q15526
    UniProtKB/TrEMBL
    E5KRX5
    Related
    ENSP00000361042.3, OTTHUMP00000022473, ENST00000371974.7, OTTHUMT00000054879
    Conserved Domains (1) summary
    cd06662
    Location:74288
    SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    133351805..133356485 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518942.1XP_011517244.1  surfeit locus protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011517244.1

    UniProtKB/TrEMBL
    A0A087WYS9
    Conserved Domains (1) summary
    cd06662
    Location:1179
    SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p12 PATCHES

    Range
    177899..182579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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