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Ehd1 Gene Detail
Summary
  • Symbol
    Ehd1
  • Name
    EH-domain containing 1
  • Synonyms
    Past1, RME-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341878
    NCBI Gene: 13660
  • Gene Overview
    MyGene.info: EHD1
Location & Maps
more
  • Sequence Map
    Chr19:6276725-6300096 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23372 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    EHD1, EH domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EHD1, EH domain containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    H-PAST, HPAST1, PAST, PAST1
  • Links
    NCBI Gene ID: 10938
    neXtProt AC: NX_Q9H4M9

  • Chr Location
    11q13; chr11:64852727-64879713 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 81678
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: EHD1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 4 alleles in 6 genetic backgrounds
    5 images
    10 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
    22
  • Gene trapped
    15
  • Targeted
    7
  • Incidental Mutations
    APF
Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts.
Gene Ontology
(GO)
Classifications
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  • 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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018621 VEGA Gene Model | MGI Sequence Detail 23372 C57BL/6J ±  kb
transcript OTTMUST00000044836 VEGA | MGI Sequence Detail 3353 Not Applicable  
polypeptide OTTMUSP00000020169 VEGA | MGI Sequence Detail 534 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    146 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 170
    cDNA 170

    Microarray probesets 8
Other
Accession IDs
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MGI:2147443
References
more
  • Summaries
    All 46
    Developmental Gene Expression 2
    Gene Ontology 11
    Phenotypes 10
  • Earliest
    J:56259 Mintz L, et al., EHD1--an EH-domain-containing protein with a specific expression pattern. Genomics. 1999 Jul 1;59(1):66-76
  • Latest
    J:228518 Arya P, et al., The endocytic recycling regulatory protein EHD1 Is required for ocular lens development. Dev Biol. 2015 Dec 1;408(1):41-55

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory