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MCUR1 mitochondrial calcium uniporter regulator 1 [ Homo sapiens (human) ]

Gene ID: 63933, updated on 22-Sep-2022

Summary

Official Symbol
MCUR1provided by HGNC
Official Full Name
mitochondrial calcium uniporter regulator 1provided by HGNC
Primary source
HGNC:HGNC:21097
See related
Ensembl:ENSG00000050393 MIM:616952; AllianceGenome:HGNC:21097
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FMP32; C6orf79; CCDC90A
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]
Expression
Ubiquitous expression in thyroid (RPKM 10.8), kidney (RPKM 9.4) and 25 other tissues See more
Orthologs
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Genomic context

See MCUR1 in Genome Data Viewer
Location:
6p23
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13786557..13814557, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13660160..13688158, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13786789..13814789, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901264 Neighboring gene Sharpr-MPRA regulatory region 2979 Neighboring gene uncharacterized LOC107986571 Neighboring gene CRISPRi-validated cis-regulatory element chr6.697 Neighboring gene ring finger protein 182 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20958

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
mitochondrial calcium uniporter regulator 1
Names
MCU regulator 1
coiled-coil domain containing 90A
coiled-coil domain-containing protein 90A, mitochondrial
epididymis secretory sperm binding protein
NP_001026883.1
XP_011513104.1
XP_047275205.1

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.

mRNA and Protein(s)

  1. NM_001031713.4NP_001026883.1  mitochondrial calcium uniporter regulator 1

    See identical proteins and their annotated locations for NP_001026883.1

    Status: VALIDATED

    Source sequence(s)
    AL023583
    Consensus CDS
    CCDS35495.1
    UniProtKB/Swiss-Prot
    Q96AQ8, Q9H7F8
    UniProtKB/TrEMBL
    A0A384NPW7
    Related
    ENSP00000368468.3, ENST00000379170.9
    Conserved Domains (1) summary
    pfam07798
    Location:166357
    DUF1640; Protein of unknown function (DUF1640)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    13786557..13814557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419249.1XP_047275205.1  mitochondrial calcium uniporter regulator 1 isoform X1

  2. XM_011514802.2XP_011513104.1  mitochondrial calcium uniporter regulator 1 isoform X2

    Conserved Domains (1) summary
    pfam07798
    Location:166341
    DUF1640; Protein of unknown function (DUF1640)

RNA

  1. XR_007059329.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    13660160..13688158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022102.1: Suppressed sequence

    Description
    NM_022102.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate. Both the transcript and the protein have no support.