Spout Domain-Containing Methyltransferase 1

Alternative Names

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

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Length

10,144 bases

No. of Exons

No. of isoforms

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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Syria

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016390.4:c.1058C>T	Syria	NC_000009.12:g.128823751G>A	Likely Pathogenic	Likely Pathogenic		NG_046991.1:g.10341G>A; NM_016390.4:c.1058C>T; NP_057474.2:p.Thr353Met	1018452459	3252018

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOUT1

Contributors

Sayeeda Hana: 27.09.2024

Edit History

Sayeeda Hana: 27.09.2024