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Reps1 Gene Detail
Summary
  • Symbol
    Reps1
  • Name
    RalBP1 associated Eps domain containing protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196373
    NCBI Gene: 19707
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:17931609-18000903 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 10, 7.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1692 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196373
protein coding gene Chr10:17931301-18000903 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017035
protein coding gene Chr10:15720118-15797260 (+)
A/J MGP_AJ_G0017013
protein coding gene Chr10:15115980-15188083 (+)
AKR/J MGP_AKRJ_G0016977
protein coding gene Chr10:15354617-15427874 (+)
BALB/cJ MGP_BALBcJ_G0016971
protein coding gene Chr10:15188698-15259516 (+)
C3H/HeJ MGP_C3HHeJ_G0016796
protein coding gene Chr10:15687821-15764102 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017433
protein coding gene Chr10:16101447-16184003 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015138
protein coding gene Chr10:14020817-14091311 (+)
CAST/EiJ MGP_CASTEiJ_G0016378
protein coding gene Chr10:15485966-15562266 (+)
CBA/J MGP_CBAJ_G0016768
protein coding gene Chr10:16825480-16902414 (+)
DBA/2J MGP_DBA2J_G0016876
protein coding gene Chr10:15013636-15083289 (+)
FVB/NJ MGP_FVBNJ_G0016871
protein coding gene Chr10:14779779-14848386 (+)
LP/J MGP_LPJ_G0016951
protein coding gene Chr10:15543789-15617284 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016901
protein coding gene Chr10:17181851-17254793 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017471
protein coding gene Chr10:15329022-15403673 (+)
PWK/PhJ MGP_PWKPhJ_G0016163
protein coding gene Chr10:14830529-14899832 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015946
protein coding gene Chr10:15494962-15569415 (+)
WSB/EiJ MGP_WSBEiJ_G0016440
protein coding gene Chr10:15404782-15483971 (+)



Homology
more
  • Human Ortholog
    REPS1, RALBP1 associated Eps domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    REPS1, RALBP1 associated Eps domain containing 1
  • Synonyms
    NBIA7, RALBP1
  • Links
    NCBI Gene ID: 85021
    neXtProt AC: NX_Q96D71
    UniProt: Q96D71

  • Chr Location
    6q24.1; chr6:138903493-138988261 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human REPS1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotype references
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
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019854 Ensembl Gene Model | MGI Sequence Detail 69295 C57BL/6J ±  kb
transcript ENSMUST00000126390 Ensembl | MGI Sequence Detail 2595 Not Applicable  
polypeptide ENSMUSP00000123238 Ensembl | MGI Sequence Detail 795 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 85
    cDNA 85

    Microarray probesets 4
Other
Accession IDs
less
MGI:2143517, MGI:2143899
References
more
  • Summaries
    All 38
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 11
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

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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last database update
09/24/2024
MGI 6.24
The Jackson Laboratory