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Ehd1
Gene Detail
Symbol

Name
ID
Ehd1
EH-domain containing 1
MGI:1341878
Synonyms
Past1, RME-1
Feature Type
protein coding gene
Genetic Map
Chromosome 19
4.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr19:6276725-6300096 bp, + strand
From VEGA annotation of GRCm38

  23372 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:81678  Vertebrate Homology Class
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: Ehd1

Human
homologs
EHD1, EH-domain containing 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 10938
neXtProt AC: NX_Q9H4M9

Human Synonyms: H-PAST, HPAST1, PAST, PAST1

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

Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Gene trapped(15) Targeted(7)
Incidental mutations (data from 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.
 
Phenotype Images(5)
Interactions
Ehd1 interacts with 197 markers (Mir7-1, Mir15a, Mir18, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process cellular response to nerve growth factor stimulus, cholesterol homeostasis, ...
Component early endosome, early endosome membrane, ...
Function ATP binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (33)    Tissues (27)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 17
RNA in situ 8
Northern blot 8
cDNA source data(168)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ehd1 ; ZFIN ehd1b    NEW 
Molecular
reagents
All nucleic(170) cDNA(170)
Microarray probesets(8)
Other database
links
VEGA Gene Model OTTMUSG00000018621 (Evidence)
Ensembl Gene Model ENSMUSG00000024772 (Evidence)
Entrez Gene 13660 (Evidence)
UniGene 30169
DFCI TC1573948
DoTS DT.536069, DT.94298118, DT.94223125, DT.99855987, DT.94311928
NIA Mouse Gene Index U038693
Consensus CDS Project CCDS29501.1
International Mouse Phenotyping Consortium Status Ehd1
Sequences
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 sequences
All sequences(74) RefSeq(2) UniProt(8)
Polymorphisms
RFLP(1) : SNPs within 2kb(146 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR000261 EPS15 homology (EH)
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000006942 EH domain-containing protein 1
References
(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:208797 Posey AD Jr, et al., EHD1 mediates vesicle trafficking required for normal muscle growth and transverse tubule development. Dev Biol. 2014 Mar 15;387(2):179-90
All references(48)
Other
accession IDs
MGI:2147443

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory