Surf1 surfeit gene 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Surf1provided by MGI
Official Full Name: surfeit gene 1provided by MGI
Primary source: MGI:MGI:98443
See related: Ensembl:ENSMUSG00000015790 AllianceGenome:MGI:98443
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Surf-1; 0610010F23Rik
Summary: Enables cytochrome-c oxidase activity. Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is expressed in brain; embryo; and skeletal muscle. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4K; Leigh disease; and mitochondrial complex IV deficiency nuclear type 1. Orthologous to human SURF1 (SURF1 cytochrome c oxidase assembly factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 27.0), cerebellum adult (RPKM 26.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.1 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (26803390..26806667, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (26913378..26916610, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Many proteins and metabolites are downregulated in Surf1(-/-) adipose tissue and reversed by Dietary restriction (DR), while in brain, most metabolites that changed were elevated in Surf1(-/-) mice.
Title: Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice.
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.
Fibroblasts from Surf1(-/-) mice are significantly more resistant to cell death caused by oxidative stress induced by paraquat or tert-Butyl hydroperoxide compared to cells from wild-type mice. In contrast, Surf1(-/-) fibroblasts show no difference in sensitivity to hydrogen peroxide stress
Title: Ablation of the mitochondrial complex IV assembly protein Surf1 leads to increased expression of the UPR(MT) and increased resistance to oxidative stress in primary cultures of fibroblasts.
These findings suggest that Surf1 deficiency-induced metabolic alterations may have positive effects on brain function.
Title: Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice.
The expression of peroxisome proliferator-activated receptor gamma-coactivator 1-alpha (PGC-1alpha) mRNA and protein was up-regulated in white adipose tissue from Surf1-/- mice, and the expression of PGC-1alpha target genes
Title: Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity.
Compared to wild type (WT) preparations Surf1 knockout preparations had a higher baseline respiratory frequency and abnormal responses to hypoxia and hypercapnia that involved both respiratory frequency and motor nerve discharge pattern.
Title: Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.
murine Surf1 protein (Surf1p) has a function specifically related to cytochrome c oxidase
Title: Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
Prolonged lifespan and complete protection from Ca(2+)-dependent neurotoxicity induced by kainic acid in Surf-1 knockout mice.
Title: Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Surf1 (e-PCR), detects polymorphism
- UniSTS:256405

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytochrome-c oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial cytochrome c oxidase assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA 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

NP_001258653.2

EC 7.1.1.9

NP_038705.2

EC 7.1.1.9

XP_006497884.1

EC 7.1.1.9

XP_006497886.1

EC 7.1.1.9

XP_006497887.1

EC 7.1.1.9

XP_006497888.1

EC 7.1.1.9

XP_006497889.1

EC 7.1.1.9

XP_030104977.1

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.

mRNA and Protein(s)

NM_001271724.1 → NP_001258653.2 surfeit locus protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. An in-frame AUG is located 32 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.

Source sequence(s)

AK002469, AL773563, BE955575

UniProtKB/TrEMBL

Q3U3J6

Conserved Domains (1) summary

pfam02104
Location:74 → 277

SURF1; SURF1 family
NM_013677.2 → NP_038705.2 surfeit locus protein 1 isoform 1

See identical proteins and their annotated locations for NP_038705.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). An in-frame AUG is located 32 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.

Source sequence(s)

AK002469, AL773563, BE955575, BU697260, CB524655

Consensus CDS

CCDS50543.1

UniProtKB/Swiss-Prot

P09925, Q99KB4, Q9DCU5

UniProtKB/TrEMBL

Q3U3J6

Related

ENSMUSP00000015934.8, ENSMUST00000015934.13

Conserved Domains (1) summary

cd06662
Location:81 → 294

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 ...

RNA

NR_073420.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon structure compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK002469, AL773563, BE955575, BY268659, CB524655

Related

ENSMUST00000167661.7

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

26803390..26806667 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497823.5 → XP_006497886.1 surfeit locus protein 1 isoform X2

UniProtKB/TrEMBL

A0A0A6YVR9

Conserved Domains (1) summary

cd06662
Location:45 → 258

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 ...
XM_006497824.4 → XP_006497887.1 surfeit locus protein 1 isoform X3

See identical proteins and their annotated locations for XP_006497887.1

UniProtKB/TrEMBL

A0A0A6YVR9, I6L9E0

Conserved Domains (1) summary

cd06662
Location:38 → 251

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 ...
XM_006497826.5 → XP_006497889.1 surfeit locus protein 1 isoform X4

Conserved Domains (1) summary

cd06662
Location:113 → 208

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 ...
XM_030249117.2 → XP_030104977.1 surfeit locus protein 1 isoform X3

UniProtKB/TrEMBL

A0A0A6YVR9, I6L9E0

Conserved Domains (1) summary

cd06662
Location:38 → 251

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 ...
XM_006497821.5 → XP_006497884.1 surfeit locus protein 1 isoform X1

UniProtKB/TrEMBL

A0A0A6YVR9

Conserved Domains (1) summary

cd06662
Location:69 → 282

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 ...
XM_006497825.4 → XP_006497888.1 surfeit locus protein 1 isoform X3

See identical proteins and their annotated locations for XP_006497888.1

UniProtKB/TrEMBL

A0A0A6YVR9, I6L9E0

Related

ENSMUSP00000141238.2, ENSMUST00000147110.8

Conserved Domains (1) summary

cd06662
Location:38 → 251

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 ...