CBARA1

Calcium-binding atopy-related autoantigen 1 is a protein that in humans is encoded by the CBARA1 gene.[5][6]

MICU1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4NSC, 4NSD
Identifiers
Aliases	MICU1, CALC, CBARA1, EFHA3, MPXPS, mitochondrial calcium uptake 1, ara CALC
External IDs	OMIM: 605084 MGI: 2384909 HomoloGene: 4431 GeneCards: MICU1
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q22.1 Start 72,367,327 bp[1] End 72,626,191 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B4 Start 59,702,477 bp[2] End 59,864,132 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding • metal ion binding • GO:0001948 protein binding • identical protein binding • protein heterodimerization activity Cellular component • calcium channel complex • membrane • mitochondrial intermembrane space • intracellular • mitochondrion • uniplex complex • integral component of mitochondrial membrane • integral component of membrane • mitochondrial inner membrane Biological process • defense response • calcium ion import • mitochondrial calcium ion homeostasis • ion transport • mitochondrial calcium uptake • positive regulation of mitochondrial calcium ion concentration • protein homooligomerization • calcium ion transport • mitochondrial calcium ion transmembrane transport • regulation of cellular hyperosmotic salinity response Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10367	216001
Ensembl	ENSG00000107745	ENSMUSG00000020111
UniProt	Q9BPX6	Q8VCX5
RefSeq (mRNA)	NM_001195518 NM_001195519 NM_006077 NM_001363513	NM_001291442 NM_001291443 NM_144822 NM_001359267
RefSeq (protein)	NP_001182447 NP_001182448 NP_006068 NP_001350442	NP_001278371 NP_001278372 NP_659071 NP_001346196
Location (UCSC)	Chr 10: 72.37 – 72.63 Mb	Chr 10: 59.7 – 59.86 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical

Mutations in this gene have been associated with myopathy with extrapyramidal signs.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000107745 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020111 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Natter S, Seiberler S, Hufnagl P, Binder BR, Hirschl AM, Ring J, Abeck D, Schmidt T, Valent P, Valenta R (Nov 1998). "Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients". FASEB J. 12 (14): 1559–69. PMID 9806765.
6. "Entrez Gene: CBARA1 calcium binding atopy-related autoantigen 1".
7. Mojbafan M, Nojehdeh ST, Rahiminejad F, Nilipour Y, Tonekaboni SH, Zeinali S (2020) Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report. BMC Med Genet 21(1):77

Further reading

• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

External links

• MICU1 human gene location in the UCSC Genome Browser.
• MICU1 human gene details in the UCSC Genome Browser.