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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
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:6326926-6350126 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 4.40 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    204 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341878
 protein coding gene Chr19:6326755-6350126 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024757
 protein coding gene Chr19:3323238-3346874 (+)
A/J MGP_AJ_G0024723
 protein coding gene Chr19:3141367-3164701 (+)
AKR/J MGP_AKRJ_G0024696
 protein coding gene Chr19:3234536-3257806 (+)
BALB/cJ MGP_BALBcJ_G0024723
 protein coding gene Chr19:3138103-3163576 (+)
C3H/HeJ MGP_C3HHeJ_G0024491
 protein coding gene Chr19:3254568-3279881 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025169
 protein coding gene Chr19:3380031-3403397 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022603
 protein coding gene Chr19:3062886-3086571 (+)
CAST/EiJ MGP_CASTEiJ_G0023963
 protein coding gene Chr19:3277630-3300779 (+)
CBA/J MGP_CBAJ_G0024463
 protein coding gene Chr19:3550945-3574086 (+)
DBA/2J MGP_DBA2J_G0024590
 protein coding gene Chr19:3130426-3153523 (+)
FVB/NJ MGP_FVBNJ_G0024556
 protein coding gene Chr19:3143920-3167583 (+)
LP/J MGP_LPJ_G0024676
 protein coding gene Chr19:3291323-3314451 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024585
 protein coding gene Chr19:3353679-3379469 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025217
 protein coding gene Chr19:3262496-3287004 (+)
PWK/PhJ MGP_PWKPhJ_G0023709
 protein coding gene Chr19:3159804-3183049 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023514
 protein coding gene Chr19:3221454-3246113 (+)
WSB/EiJ MGP_WSBEiJ_G0024025
 protein coding gene Chr19:3274990-3299456 (+)



Homology
more
  • Human Ortholog
    EHD1, EH domain containing 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EHD1, EH domain containing 1
  • Synonyms
    H-PAST, HPAST1, PAST, PAST1
  • Links
    NCBI Gene ID: 10938
    neXtProt AC: NX_Q9H4M9
    UniProt: Q9H4M9

  • Chr Location
    11q13.1; chr11:64851642-64888296 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 4 alleles in 6 genetic backgrounds
    5 images
    21 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 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
less
  • All GO Annotations
    63
  • GO References
    15
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
    752
  • Tissues
    36
  • cDNA Data
    169
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13660 NCBI Gene Model | MGI Sequence Detail 23201 C57BL/6J ±  kb
    transcript NM_010119 RefSeq | MGI Sequence Detail 3182 ZRU/MplStud  
    polypeptide Q9WVK4 UniProt | EBI | MGI Sequence Detail 534 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 171
      cDNA 171

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2147443
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 4
      Gene Ontology 15
      Phenotypes 21
    • 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:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory