MCUR1 - mitochondrial calcium uniporter regulator 1 Gene

Homo sapiens

Also known as FMP32; C6orf79; CCDC90A

Gene ID: 63933 | Gene type: protein coding

About MCUR1

Cytogenetic location: 6p23 Genomic coordinates (GRCh38): 6:13,786,557-13,814,557 (from NCBI)

This gene has 3 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 10.8), kidney (RPKM 9.4) and 25 other tissues.

Summary

Involved in calcium import into the mitochondrion and positive regulation of mitochondrial calcium ion concentration. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

MCUR1 Products(1)

mRNA	Protein	Name
NM_001031713.4	NP_001026883.1	mitochondrial calcium uniporter regulator 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23178883	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium import into the mitochondrion	IMP IMP: Inferred from mutant phenotype	26445506	GOA
involved in calcium ion import	IMP IMP: Inferred from mutant phenotype	23178883	GOA
involved in mitochondrial calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	23178883	GOA
involved in positive regulation of mitochondrial calcium ion concentration	IMP IMP: Inferred from mutant phenotype	23178883	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	23178883	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCUR1 Protein Structure

DUF1640

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

mitochondrial calcium uniporter regulator 1

MCU regulator 1

Related Diseases

Diseases

Alias

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08254	MCUR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MCUR1	VGNC	VGNC:81471
Bos taurus	MCUR1	VGNC	VGNC:31327
Mus musculus	MCUR1	MGD	MGI:1923387
Rattus norvegicus	MCUR1	RGD	RGD:1307673
Felis catus	MCUR1	VGNC	VGNC:63423

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