Spout Domain-Containing Methyltransferase 1

Alternative Names

  • SPOUT1
  • Centromere Protein 32
  • CENP32
  • Chromosome 9 Open Reading Frame 114
  • C9ORF114
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OMIM Number

617614

NCBI Gene ID

51490

Uniprot ID

Q5T280

Length

10,144 bases

No. of Exons

12

No. of isoforms

1

Protein Name

Putative methyltransferase C9orf114

Molecular Mass

42009 Da

Amino Acid Count

376

Genomic Location

chr9:128,819,651-128,829,794

Gene Map Locus
9q34.11

Description

Enables miRNA binding activity. Involved in maintenance of centrosome location and production of miRNAs involved in gene silencing by miRNA. Located in kinetochore; mitotic spindle; and spindle pole centrosome. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016390.4:c.1058C>TSyriaNC_000009.12:g.128823751G>ALikely PathogenicUncertain SignificanceNG_046991.1:g.10341G>A; NM_016390.4:c.1058C>T; NP_057474.2:p.Thr353Met10184524593252018
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