Efhd1 MGI Mouse Gene Detail - MGI:1921607 - EF hand domain containing 1

Symbol

Efhd1
Name

EF hand domain containing 1
Synonyms

4931430I01Rik, mitocalcin, PP3051

Feature Type

protein coding gene
IDs

MGI:1921607
NCBI Gene: 98363
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr1:87192085-87238561 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 44.15 cM
Mapping Data

2 experiments

SNPs within 2kb

1207 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921607	protein coding gene	Chr1:87192075-87238563 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016262	protein coding gene	Chr1:88606497-88660461 (+)
A/J	MGP_AJ_G0016243	protein coding gene	Chr1:85297289-85344877 (+)
AKR/J	MGP_AKRJ_G0016204	protein coding gene	Chr1:87814056-87861377 (+)
BALB/cJ	MGP_BALBcJ_G0016200	protein coding gene	Chr1:85418128-85465906 (+)
C3H/HeJ	MGP_C3HHeJ_G0016028	protein coding gene	Chr1:88074215-88122622 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016656	protein coding gene	Chr1:91939714-91985868 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014378	protein coding gene	Chr1:79742148-79791277 (+)
CAST/EiJ	MGP_CASTEiJ_G0015613	protein coding gene	Chr1:87281964-87337752 (+)
CBA/J	MGP_CBAJ_G0016004	protein coding gene	Chr1:94825813-94880220 (+)
DBA/2J	MGP_DBA2J_G0016107	protein coding gene	Chr1:84600684-84647907 (+)
FVB/NJ	MGP_FVBNJ_G0016106	protein coding gene	Chr1:83659072-83705583 (+)
LP/J	MGP_LPJ_G0016178	protein coding gene	Chr1:89668292-89721978 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016132	protein coding gene	Chr1:98109223-98159102 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016699	protein coding gene	Chr1:87919127-87974331 (+)
PWK/PhJ	MGP_PWKPhJ_G0015400	protein coding gene	Chr1:83896749-83945293 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015180	protein coding gene	Chr1:86840972-86890249 (+)
WSB/EiJ	MGP_WSBEiJ_G0015677	protein coding gene	Chr1:87585807-87635070 (+)

Human Ortholog

EFHD1, EF-hand domain family member D1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFHD1, EF-hand domain family member D1
Synonyms

MST133, MSTP133, PP3051, SWS2
Links

HGNC:29556

NCBI Gene ID: 80303

neXtProt AC: NX_Q9BUP0

UniProt: Q9BUP0
Chr Location

2q37.1; chr2:232606057-232682776 (+) GRCh38

MGI Vertebrate Homology

Efhd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EFHD1
Gene Tree

Efhd1

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
14 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

13
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

6
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Efhd1
Find Mice (IMSR)

20 strains or lines available

Mice homozygous for a null allele exhibit reduced axonal coverage and decreased number of branches with reduced ATP levels and shortened mitochondria in addition to increased neuron apoptosis.

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All GO Annotations

11
GO References

6

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

724
Tissues

6
cDNA Data

29
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase efhd1

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All Sequences

39
RefSeq

3
UniProt

1
CCDS

CCDS15132.1

Ensembl

ENSMUSG00000026255 (Evidence)
NCBI Gene

98363

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026255	Ensembl Gene Model \| MGI Sequence Detail	46477	C57BL/6J	± kb
transcript	ENSMUST00000118687	Ensembl \| MGI Sequence Detail	1726	Not Applicable
polypeptide	ENSMUSP00000112980	Ensembl \| MGI Sequence Detail	240	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000029440 EF-hand domain-containing protein D1

(term hierarchy)
PDB

7CLT, 7YGV, 7YGW
InterPro Domains

IPR002048 EF-hand domain

IPR040365 EF-hand domain-containing protein D1/2

IPR011992 EF-hand domain pair
GlyGen

Q9D4J1 1 site, 1 O-linked glycan (1 site)

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All nucleic 30

cDNA 29

Primer pair 1

Microarray probesets 3

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MGI:2138258

Summaries

All 46

Developmental Gene Expression 4

Gene Ontology 6

Phenotypes 14
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Efhd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7834	Chr1:87192067-87192092 (+)	-5 bp
Tssr7835	Chr1:87192135-87192166 (+)	66 bp
Tssr7836	Chr1:87192325-87192355 (+)	255 bp
Tssr7837	Chr1:87209479-87209484 (+)	17,397 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 12/10/2024 MGI 6.24