About   Help   FAQ
Surf1 Gene Detail
Summary
  • Symbol
    Surf1
  • Name
    surfeit gene 1
  • Synonyms
    0610010F23Rik, Surf-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98443
    NCBI Gene: 20930
  • Member of
    Surf cluster
  • Gene Overview
    MyGene.info: SURF1
Location & Maps
more
  • Sequence Map
    Chr2:26913381-26916530 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3150 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SURF1, surfeit 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SURF1, surfeit 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CMT4K
  • Links
    NCBI Gene ID: 6834
    neXtProt AC: NX_Q15526

  • Chr Location
    9q34.2; chr9:133351805-133356485 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Surf1 mouse models; 1 with human SURF1 associations

Human Disease Mouse Models
       Leigh Syndrome; LS   OMIM: 256000 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Targeted
    4
  • Incidental Mutations
Mutations in this gene affect calcium uptake by mitochondria in neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011739 VEGA Gene Model | MGI Sequence Detail 3150 C57BL/6J ±  kb
transcript OTTMUST00000027512 VEGA | MGI Sequence Detail 1173 Not Applicable  
polypeptide OTTMUSP00000012505 VEGA | MGI Sequence Detail 306 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    36 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000015840 surfeit locus protein 1
  • InterPro Domains
    IPR002994 Surfeit locus 1/Shy1
Molecular
Reagents
less
  • All nucleic 102
    Genomic 1
    cDNA 99
    Primer pair 1
    Other 1

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-14644, MGD-MRK-14651, MGI:1915586
References
more
  • Summaries
    All 42
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 6
    Phenotypes 8
  • Earliest
    J:29566 Williams TJ, et al., The MES-1 murine enhancer element is closely associated with the heterogeneous 5' ends of two divergent transcription units. Mol Cell Biol. 1986 Dec;6(12):4558-69
  • Latest
    J:197658 Deepa SS, et al., Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity. FASEB J. 2013 Apr;27(4):1371-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/19/2016
MGI 6.03
The Jackson Laboratory