MICU1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMICU1, CALC, CBARA1, EFHA3, MPXPS, mitochondrial calcium uptake 1, ara CALC
External IDsOMIM: 605084 MGI: 2384909 HomoloGene: 4431 GeneCards: MICU1
Orthologs
SpeciesHumanMouse
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 MbChr 10: 59.54 – 59.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000107745 - Ensembl, May 2017
  2. 1 2 3 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


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