1. Gene
  2. MCUR1 - mitochondrial calcium uniporter regulator 1 Gene

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

MCUR1 Protein Structure

DUF1640

DUF1640: Protein of unknown function (DUF1640) (166 - 359)

  • 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

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