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

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; AllianceGenome:HGNC:11474
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: SHY1; CMT4K; MC4DN1
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: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133351758..133356487, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145565698..145570441, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136218613..136223363, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Title: Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.
Title: Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.
Role of SURF1 in etiology of Leigh syndrome in Slovakia.
Title: Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
studies support the view that COX assembly is much more dependent on SURF1 in humans than in mice.
Title: Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.
SURF1 mutations may be associated with worse clinical outcome in Chinese patients with Leigh syndrome than other populations.
Title: SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
the MT-ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses.
Title: Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth disease.
Title: SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
Title: Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2
Title: Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
Study identified 21 patients with clinical features of Leigh syndrome who are either homozygous or compound heterozygous for SURF1 mutations.
Title: SURF1-associated Leigh syndrome: a case series and novel mutations.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 4K MedGen: C4225246 OMIM: 616684 GeneReviews: Not available	Compare labs
Cytochrome-c oxidase deficiency disease MedGen: C5435656 OMIM: 220110 GeneReviews: Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytochrome-c oxidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in respiratory chain complex IV assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial respirasome	TAS Traceable Author Statement more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: surfeit locus protein 1

Names: surfeit 1

NP_001267716.1

EC 7.1.1.9

NP_003163.1

EC 7.1.1.9

NCBI Reference Sequences (RefSeq)

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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

NG_008477.2 RefSeqGene

Range

5000..9729

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001280787.1 → NP_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/TrEMBL

A0A087WYS9, A0A0S2Z523

Related

ENSP00000482067.1, ENST00000615505.4

Conserved Domains (1) summary

cd06662
Location:1 → 179

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 ...
NM_003172.4 → NP_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, AL593848, BE645550, Z35093

Consensus CDS

CCDS6966.1

UniProtKB/Swiss-Prot

Q15526, Q5T8T3, Q5T8T4

UniProtKB/TrEMBL

E5KRX5

Related

ENSP00000361042.3, ENST00000371974.8

Conserved Domains (1) summary

cd06662
Location:74 → 288

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 ...