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Reep1 Gene Detail
Summary
  • Symbol
    Reep1
  • Name
    receptor accessory protein 1
  • Synonyms
    D6Ertd253e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098827
    NCBI Gene: 52250
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:71684545-71787694 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 32.20 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3215 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098827
 protein coding gene Chr6:71684413-71787694 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030862
 protein coding gene Chr6:72202737-72313892 (+)
A/J MGP_AJ_G0030832
 protein coding gene Chr6:69426771-69530480 (+)
AKR/J MGP_AKRJ_G0030761
 protein coding gene Chr6:71434087-71545643 (+)
BALB/cJ MGP_BALBcJ_G0030843
 protein coding gene Chr6:69455202-69560065 (+)
C3H/HeJ MGP_C3HHeJ_G0030869
 protein coding gene Chr6:112703025-112811684 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031301
 protein coding gene Chr6:74114792-74220986 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028490
 protein coding gene Chr6:68600509-68705953 (+)
CAST/EiJ MGP_CASTEiJ_G0029951
 protein coding gene Chr6:71293829-71413032 (+)
CBA/J MGP_CBAJ_G0030530
 protein coding gene Chr6:77070469-77193947 (+)
DBA/2J MGP_DBA2J_G0030682
 protein coding gene Chr6:68808106-68913067 (+)
FVB/NJ MGP_FVBNJ_G0030635
 protein coding gene Chr6:68168633-68294245 (+)
LP/J MGP_LPJ_G0030761
 protein coding gene Chr6:72125650-72233869 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030670
 protein coding gene Chr6:80544518-80656325 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031327
 protein coding gene Chr6:71264572-71372830 (+)
PWK/PhJ MGP_PWKPhJ_G0029667
 protein coding gene Chr6:67699491-67808888 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029495
 protein coding gene Chr6:69983502-70092255 (+)
WSB/EiJ MGP_WSBEiJ_G0030033
 protein coding gene Chr6:71617558-71729236 (+)



Homology
more
  • Human Ortholog
    REEP1, receptor accessory protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    REEP1, receptor accessory protein 1
  • Synonyms
    C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a
  • Links
    NCBI Gene ID: 65055
    neXtProt AC: NX_Q9H902
    UniProt: Q9H902

  • Chr Location
    2p11.2; chr2:86213993-86338083 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Reep1 mouse models; 3 with human REEP1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    905
  • Tissues
    51
  • cDNA Data
    94
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000052852 Ensembl Gene Model | MGI Sequence Detail 103150 C57BL/6J ±  kb
    transcript ENSMUST00000212792 Ensembl | MGI Sequence Detail 3339 Not Applicable  
    polypeptide ENSMUSP00000148341 Ensembl | MGI Sequence Detail 284 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 96
      cDNA 94
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2141713, MGI:2141789
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 6
      Phenotypes 10
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:357786 Qin S, et al., REEP1 Preserves Motor Function in SOD1(G93A) Mice by Improving Mitochondrial Function via Interaction with NDUFA4. Neurosci Bull. 2023 Jun;39(6):929-946
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory