Ehd1 MGI Mouse Gene Detail - MGI:1341878

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

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

SNPs within 2kb

204 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:3242

NCBI Gene ID: 10938

neXtProt AC: NX_Q9H4M9

UniProt: Q9H4M9
Chr Location

11q13.1; chr11:64851642-64888296 (-) GRCh38

MGI Vertebrate Homology

Ehd1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EHD1
Gene Tree

Ehd1

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Phenotype Summary

31 phenotypes from 4 alleles in 6 genetic backgrounds
5 images
21 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

27
Endonuclease-mediated

5
Gene trapped

14
Targeted

8
Incidental Mutations

APF
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ehd1

ZFIN ehd1a, ehd1b

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All Sequences

79
RefSeq

2
UniProt

8
CCDS

CCDS29501.1

Ensembl

ENSMUSG00000024772 (Evidence)
NCBI Gene

13660

			Length	Strain/Species	Flank
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

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UniProt

8 Sequences
Protein Ontology

PR:000006942 EH domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR040990 Domain of unknown function DUF5600

IPR045063 Dynamin, N-terminal

IPR030381 Dynamin-type guanine nucleotide-binding (G) domain

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR000261 EH domain

IPR031692 EH domain-containing protein, N-terminal

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q9WVK4 1 site, 1 O-linked glycan (1 site)

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All nucleic 171

cDNA 171

Microarray probesets 8

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MGI:2147443

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

TSS for Ehd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154599	Chr19:6325951-6325958 (+)	-971 bp
Tssr154600	Chr19:6326198-6326202 (+)	-726 bp
Tssr154601	Chr19:6326810-6326822 (+)	-110 bp
Tssr154602	Chr19:6326880-6326921 (+)	-25 bp
Tssr154603	Chr19:6326929-6326966 (+)	22 bp
Tssr154604	Chr19:6332093-6332097 (+)	5,169 bp
Tssr154605	Chr19:6332775-6332791 (+)	5,857 bp
Tssr154606	Chr19:6344457-6344475 (+)	17,540 bp
Tssr154607	Chr19:6346852-6346877 (+)	19,939 bp
Tssr154608	Chr19:6347932-6347954 (+)	21,017 bp
Tssr154609	Chr19:6347973-6347999 (+)	21,060 bp
Tssr154610	Chr19:6348016-6348025 (+)	21,095 bp
Tssr154611	Chr19:6348319-6348324 (+)	21,396 bp
Tssr154612	Chr19:6348730-6348768 (+)	21,823 bp
Tssr154613	Chr19:6348875-6348893 (+)	21,958 bp
Tssr154614	Chr19:6349154-6349184 (+)	22,243 bp
Tssr154615	Chr19:6349756-6349778 (+)	22,841 bp
Tssr154616	Chr19:6349801-6349812 (+)	22,881 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24