Micu1 MGI Mouse Gene Detail - MGI:2384909 - mitochondrial calcium uptake 1

Symbol

Micu1
Name

mitochondrial calcium uptake 1
Synonyms

C730016L05Rik, Cbara1

Feature Type

protein coding gene
IDs

MGI:2384909
NCBI Gene: 216001
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr10:59538385-59699956 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 29.60 cM
Mapping Data

1 experiment

SNPs within 2kb

4670 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384909	protein coding gene	Chr10:59538299-59699956 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017260	protein coding gene	Chr10:58884968-59044933 (+)
A/J	MGP_AJ_G0017237	protein coding gene	Chr10:57159056-57319622 (+)
AKR/J	MGP_AKRJ_G0017196	protein coding gene	Chr10:58629299-58788387 (+)
BALB/cJ	MGP_BALBcJ_G0017198	protein coding gene	Chr10:57227487-57405598 (+)
C3H/HeJ	MGP_C3HHeJ_G0017021	protein coding gene	Chr10:58562099-58726592 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017656	protein coding gene	Chr10:60983943-61157633 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015347	protein coding gene	Chr10:54193893-54345834 (+)
CAST/EiJ	MGP_CASTEiJ_G0016592	protein coding gene	Chr10:58500799-58656316 (+)
CBA/J	MGP_CBAJ_G0016993	protein coding gene	Chr10:63176858-63344918 (+)
DBA/2J	MGP_DBA2J_G0017098	protein coding gene	Chr10:56473489-56628995 (+)
FVB/NJ	MGP_FVBNJ_G0017092	protein coding gene	Chr10:55708423-55866151 (+)
LP/J	MGP_LPJ_G0017173	protein coding gene	Chr10:59253683-59425249 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017120	protein coding gene	Chr10:65684458-65849621 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017693	protein coding gene	Chr10:58443050-58612291 (+)
PWK/PhJ	MGP_PWKPhJ_G0016375	protein coding gene	Chr10:56280648-56438897 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016158	protein coding gene	Chr10:57793986-57955897 (+)
WSB/EiJ	MGP_WSBEiJ_G0016656	protein coding gene	Chr10:58366665-58524987 (+)

Human Ortholog

MICU1, mitochondrial calcium uptake 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MICU1, mitochondrial calcium uptake 1
Synonyms

ara CALC, CALC, CBARA1, EFHA3, MPXPS
Links

HGNC:1530

NCBI Gene ID: 10367

neXtProt AC: NX_Q9BPX6

UniProt: Q9BPX6
Chr Location

10q22.1; chr10:72367340-72626131 (-) GRCh38

MGI Vertebrate Homology

Micu1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MICU1
Gene Tree

Micu1

Diseases

1 with human MICU1 associations

				Human Disease	Mouse Models
				myopathy with extrapyramidal signs IDs myopathy with extrapyramidal signs DOID:0111335 OMIM:615673 ORDO:401768

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

27 phenotypes from 2 alleles in 2 genetic backgrounds
8 phenotypes from multigenic genotypes
25 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

23
Chemically induced (other)

1
Endonuclease-mediated

9
Gene trapped

6
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving Micu1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit impaired mitochondrial calcium uptake, postnatal lethality, reduced body size, ataxia, underdeveloped cerebellum, reduced muscle strength, increased reactive oxygen species, and reduced B cell numbers.

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All GO Annotations

53
GO References

12

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

791
Tissues

26
cDNA Data

106
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase micu1

ZFIN micu1

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All Sequences

82
RefSeq

10
UniProt

3
CCDS

CCDS35909.1, CCDS78817.1, CCDS78818.1

Ensembl

ENSMUSG00000020111 (Evidence)
NCBI Gene

216001

			Length	Strain/Species	Flank
genomic	216001	NCBI Gene Model \| MGI Sequence Detail	161572	C57BL/6J	± kb
transcript	NM_001291442	RefSeq \| MGI Sequence Detail	2376	C57BL/6
polypeptide	Q8VCX5	UniProt \| EBI \| MGI Sequence Detail	477	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005066 calcium uptake protein 1, mitochondrial

(term hierarchy)
InterPro Domains

IPR039800 Calcium uptake protein 1/2/3

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair
GlyGen

Q8VCX5 1 site, 1 O-linked glycan (1 site)

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All nucleic 109

cDNA 108

Primer pair 1

Microarray probesets 3

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MGI:2443095

Summaries

All 61

Developmental Gene Expression 3

Gene Ontology 12

Phenotypes 25
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:347311 Roman B, et al., Loss of mitochondrial Ca(2+) uptake protein 3 impairs skeletal muscle calcium handling and exercise capacity. J Physiol. 2024 Jan;602(1):113-128

TSS for Micu1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93490	Chr10:59538380-59538450 (+)	30 bp
Tssr93491	Chr10:59538451-59538465 (+)	73 bp
Tssr93492	Chr10:59538467-59538485 (+)	91 bp
Tssr93493	Chr10:59697285-59697292 (+)	158,904 bp
Tssr93494	Chr10:59697304-59697325 (+)	158,930 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