CBARA1

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 72,367,340 bp [1] End 72,626,131 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 B4 Start 59,538,299 bp [2] End 59,699,954 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon cerebellar hemisphere monocyte Left adrenal gland gastrocnemius muscle prefrontal cortex ganglionic eminence Brodmann area 9 cingulate gyrus right lobe of liver Top expressed in intestinal villus pyloric antrum mirror mucous cell of stomach duodenum jejunum ankle extraocular muscle soleus muscle superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding protein binding identical protein binding protein heterodimerization activity Cellular component calcium channel complex membrane mitochondrial intermembrane space intracellular anatomical structure 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 calcium import into the mitochondrion 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: 59.54 – 59.7 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. doi:10.1096/fasebj.12.14.1559. PMID   9806765. S2CID   18002244.
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. Bibcode:2002PNAS...9916899M. 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 .