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Esrp1 Gene Detail
Summary
  • Symbol
    Esrp1
  • Name
    epithelial splicing regulatory protein 1
  • Synonyms
    2210008M09Rik, MGC:25805, Rbm35a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917326
    NCBI Gene: 207920
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:11331933-11386783 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 5.11 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1620 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917326
 protein coding gene Chr4:11331933-11386783 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028052
 protein coding gene Chr4:7989327-8043928 (-)
A/J MGP_AJ_G0028009
 protein coding gene Chr4:7866934-7921629 (-)
AKR/J MGP_AKRJ_G0027975
 protein coding gene Chr4:7948055-8002718 (-)
BALB/cJ MGP_BALBcJ_G0028021
 protein coding gene Chr4:7781498-7836332 (-)
C3H/HeJ MGP_C3HHeJ_G0027751
 protein coding gene Chr4:8108908-8164421 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028464
 protein coding gene Chr4:8399766-8454587 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025808
 protein coding gene Chr4:7372999-7429595 (-)
CAST/EiJ MGP_CASTEiJ_G0027205
 protein coding gene Chr4:7935479-7992276 (-)
CBA/J MGP_CBAJ_G0027726
 protein coding gene Chr4:8610716-8665197 (-)
DBA/2J MGP_DBA2J_G0027867
 protein coding gene Chr4:7738919-7793651 (-)
FVB/NJ MGP_FVBNJ_G0027833
 protein coding gene Chr4:7567260-7623060 (-)
LP/J MGP_LPJ_G0027977
 protein coding gene Chr4:8070070-8128557 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027866
 protein coding gene Chr4:8809413-8870057 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028523
 protein coding gene Chr4:7953027-8008252 (-)
PWK/PhJ MGP_PWKPhJ_G0026926
 protein coding gene Chr4:7742636-7798087 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026756
 protein coding gene Chr4:7872123-7931832 (-)
WSB/EiJ MGP_WSBEiJ_G0027284
 protein coding gene Chr4:8018050-8074771 (-)



Homology
more
  • Human Ortholog
    ESRP1, epithelial splicing regulatory protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ESRP1, epithelial splicing regulatory protein 1
  • Synonyms
    DFNB109, RBM35A, RMB35A
  • Links
    NCBI Gene ID: 54845
    neXtProt AC: NX_Q6NXG1
    UniProt: Q6NXG1

  • Chr Location
    8q22.1; chr8:94641074-94707466 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ESRP1 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
    40 phenotypes from 4 alleles in 4 genetic backgrounds
    32 phenotypes from multigenic genotypes
    14 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 an ENU-induced allele exhibit hyperactivity and circling with no detectable hearing deficits. Mice homozygous for a null allele exhibit bilateral cleft lip and cleft palate, and die at P0.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    5
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
    875
  • Tissues
    119
  • cDNA Data
    15
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 207920 NCBI Gene Model | MGI Sequence Detail 54851 C57BL/6J ±  kb
    transcript NM_194055 RefSeq | MGI Sequence Detail 3969 C57BL/6  
    polypeptide Q3US41 UniProt | EBI | MGI Sequence Detail 680 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      cDNA 19
      Primer pair 7
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2671951
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 15
      Gene Ontology 5
      Phenotypes 14
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory