MICU1 mitochondrial calcium uptake 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MICU1provided by HGNC
Official Full Name: mitochondrial calcium uptake 1provided by HGNC
Primary source: HGNC:HGNC:1530
See related: Ensembl:ENSG00000107745 MIM:605084; AllianceGenome:HGNC:1530
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CALC; EFHA3; MPXPS; CBARA1; ara CALC
Summary: This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
Expression: Ubiquitous expression in kidney (RPKM 30.5), adrenal (RPKM 20.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (72367340..72626079, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (73238332..73497425, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (74127098..74385837, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
Title: Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
Title: The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.
Title: Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.
Molecular pathophysiology of human MICU1 deficiency.
Title: Molecular pathophysiology of human MICU1 deficiency.
Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
Title: Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.
Title: Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.
The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.
Title: The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.
Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.
Title: Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.
Dysregulation of Mitochondrial Ca(2+) Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.
Title: Dysregulation of Mitochondrial Ca(2+) Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.
MICU1 confers Ca(2+)-dependent gating of the uniporter by blocking/unblocking MCU.
Title: The conserved aspartate ring of MCU mediates MICU1 binding and regulation in the mitochondrial calcium uniporter complex.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Proximal myopathy with extrapyramidal signs MedGen: C3810285 OMIM: 615673 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G63172 (e-PCR)
- UniSTS:140289

RH92364 (e-PCR)
- UniSTS:90120

RH44916 (e-PCR)
- UniSTS:77081

127XE9 (e-PCR)
- UniSTS:43816

RH80361 (e-PCR)
- UniSTS:92465

WI-16794 (e-PCR)
- UniSTS:61764

G62645 (e-PCR)
- UniSTS:139625

STS-T80629 (e-PCR)
- UniSTS:26243

SHGC-111140 (e-PCR)
- UniSTS:182178

SHGC-58644 (e-PCR)
- UniSTS:94444

RH11031 (e-PCR)
- UniSTS:38909

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables calcium ion sensor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium import into the mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium import into the mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium import into the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium import into the mitochondrion	NAS Non-traceable Author Statement more info	PubMed
involved_in calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial calcium ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cristae formation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cellular hyperosmotic salinity response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial crista junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed
part_of uniplex complex	IBA Inferred from Biological aspect of Ancestor more info
part_of uniplex complex	IDA Inferred from Direct Assay more info	PubMed
part_of uniplex complex	IPI Inferred from Physical Interaction more info	PubMed
part_of uniplex complex	ISS Inferred from Sequence or Structural Similarity more info
part_of uniplex complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: calcium uptake protein 1, mitochondrial

Names: atopy-related autoantigen CALC; calcium-binding atopy-related autoantigen 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033179.1 RefSeqGene

Range

5113..263852

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195518.2 → NP_001182447.1 calcium uptake protein 1, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001182447.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AC091769, AK023318, AL513185

Consensus CDS

CCDS55715.1

UniProtKB/Swiss-Prot

A8MV96, B3KN20, B4DJH9, B4DPI1, B5MBY3, D3YTJ3, O75785, Q9BPX6, Q9H9N6, Q9UFX0

UniProtKB/TrEMBL

A0A0U1RRK1

Related

ENSP00000354415.5, ENST00000361114.10

Conserved Domains (1) summary

cd16173
Location:222 → 441

EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
NM_001195519.2 → NP_001182448.1 calcium uptake protein 1, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001182448.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation to occur at a downstream start codon compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1. In the absence of experimental data indicating otherwise, isoform 3 is presumed to be localized to the mitochondria, similarly to isoforms 1 and 2.

Source sequence(s)

AK296086, AL513185, BU627477

Consensus CDS

CCDS55714.1

UniProtKB/Swiss-Prot

Q9BPX6

Related

ENSP00000402470.2, ENST00000418483.6

Conserved Domains (2) summary

pfam13202
Location:25 → 48

EF-hand_5; EF hand

pfam13499
Location:14 → 47

EF-hand_7; EF-hand domain pair
NM_001363513.2 → NP_001350442.1 calcium uptake protein 1, mitochondrial isoform 4

Status: REVIEWED

Source sequence(s)

AC091769, AL513185

Consensus CDS

CCDS86101.1

UniProtKB/TrEMBL

A0A0U1RRK1, A0A286YF11

Related

ENSP00000493232.1, ENST00000642044.1

Conserved Domains (1) summary

cd16173
Location:228 → 447

EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
NM_006077.4 → NP_006068.2 calcium uptake protein 1, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_006068.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AC091769, AL117423, AL513185

UniProtKB/TrEMBL

A0A0U1RRK1

Conserved Domains (1) summary

pfam13202
Location:225 → 248

EF-hand_5; EF hand

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

72367340..72626079 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539119.2 → XP_011537421.1 calcium uptake protein 1, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A0U1RRK1

Conserved Domains (1) summary

pfam13202
Location:279 → 302

EF-hand_5; EF hand
XM_047424441.1 → XP_047280397.1 calcium uptake protein 1, mitochondrial isoform X3
XM_047424440.1 → XP_047280396.1 calcium uptake protein 1, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

73238332..73497425 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364482.1 → XP_054220457.1 calcium uptake protein 1, mitochondrial isoform X1
XM_054364483.1 → XP_054220458.1 calcium uptake protein 1, mitochondrial isoform X2
XM_054364484.1 → XP_054220459.1 calcium uptake protein 1, mitochondrial isoform X3