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Enthd1 Gene Detail
Summary
  • Symbol
    Enthd1
  • Name
    ENTH domain containing 1
  • Synonyms
    LOC383075
  • Feature Type
    protein coding gene
  • IDs
    MGI:2686088
    NCBI Gene: 383075
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:80336441-80449357 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 37.85 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1796 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2686088
 protein coding gene Chr15:80335916-80449384 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022100
 protein coding gene Chr15:80801317-80919696 (-)
A/J MGP_AJ_G0022061
 protein coding gene Chr15:77987286-78098808 (-)
AKR/J MGP_AKRJ_G0022036
 protein coding gene Chr15:80174717-80291140 (-)
BALB/cJ MGP_BALBcJ_G0022067
 protein coding gene Chr15:77994350-78107042 (-)
C3H/HeJ MGP_C3HHeJ_G0021838
 protein coding gene Chr15:80160008-80276610 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022510
 protein coding gene Chr15:83983213-84103078 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020040
 protein coding gene Chr15:74474529-74582681 (-)
CAST/EiJ MGP_CASTEiJ_G0021359
 protein coding gene Chr15:80886499-81004469 (-)
CBA/J MGP_CBAJ_G0021803
 protein coding gene Chr15:86627414-86748666 (-)
DBA/2J MGP_DBA2J_G0021932
 protein coding gene Chr15:77480734-77589989 (-)
FVB/NJ MGP_FVBNJ_G0021910
 protein coding gene Chr15:76514351-76628124 (-)
LP/J MGP_LPJ_G0022000
 protein coding gene Chr15:80979798-81096185 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021930
 protein coding gene Chr15:91633043-91756743 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022524
 protein coding gene Chr15:80205010-80328868 (-)
PWK/PhJ MGP_PWKPhJ_G0021101
 protein coding gene Chr15:77495188-77604422 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020938
 protein coding gene Chr15:80002891-80124549 (-)
WSB/EiJ MGP_WSBEiJ_G0021411
 protein coding gene Chr15:80618631-80736071 (-)



Homology
more
  • Human Ortholog
    ENTHD1, ENTH domain containing 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ENTHD1, ENTH domain containing 1
  • Synonyms
    CACNA1I, dJ370M22.3
  • Links
    NCBI Gene ID: 150350
    neXtProt AC: NX_Q8IYW4
    UniProt: Q8IYW4

  • Chr Location
    22q13.1; chr22:39743044-39893864 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    6
  • GO References
    1
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
    706
  • cDNA Data
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000050439 Ensembl Gene Model | MGI Sequence Detail 112917 C57BL/6J ±  kb
transcript ENSMUST00000096347 Ensembl | MGI Sequence Detail 2110 Not Applicable  
polypeptide ENSMUSP00000094072 Ensembl | MGI Sequence Detail 618 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 1
    cDNA 1
References
more
  • Summaries
    All 35
    Diseases 1
    Gene Ontology 1
    Phenotypes 26
  • Earliest
    J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
  • Latest
    J:285676 Suzuki A, et al., Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018 Apr;150:21-27
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
11/12/2024
MGI 6.24 		The Jackson Laboratory