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MCUR1 - mitochondrial calcium uniporter regulator 1 Gene

Also Known as FMP32; C6orf79; CCDC90A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63933

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23178883	GOA

Biological Process GO Annotation	Evidence	Verweise	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	Verweise	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

MCUR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MCUR1	Q96AQ8	MCU	Homo sapiens	Q8NE86-1	Anti Tag CoIP	23178883
Intra	MCUR1	Q96AQ8	CPT2	Homo sapiens	P23786	Anti Tag CoIP	28514442
Intra	MCUR1	Q96AQ8	CPT2	Homo sapiens	P23786	Anti Tag CoIP	33961781
Intra	MCUR1	Q96AQ8	CCDC90B	Homo sapiens	Q9GZT6	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08254	MCUR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22630	Mcur1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29145	Mcur1 Rat Pre-designed siRNA Set A		/	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
Others	MCUR1	NCBI