GeneID: 391

Names

Common Name:	SAR1AP3-PRDM5	Type:	Intergenic Region
Chromosome:	4 (NC_000004.12)	Locus:	N/A
HUGO Symbol:	SAR1AP3-PRDM5	Full Name:	N/A
Exons:	N/A	Introns:	N/A

Description:
SAR1AP3 (secretion-associated Ras-related GTPase 1A pseudogene 3) is a pseudogene. Of note, [GDP]-bound Sar1 is involved in membrane trafficking. PRDM5 (PR/SET domain 5) is a transcription factor of the PR-domain protein family, which is involved in cell differentiation and tumorigenesis. A variant located in the SAR1AP3-PRDM5 intergenic region associated with F-cell levels in sickle cell disease (SIT trial).

Synonyms: N/A

Comments:
N/A

Number of entries/variants: 2

External Links

NCBI Gene

IthaScore

Publications / Origin

Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011

Created on 2020-10-05 16:46:29, Last reviewed on 2020-10-06 13:32:13 (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-10-05 16:46:29	The IthaGenes Curation Team	Created
2	2020-10-05 16:47:38	The IthaGenes Curation Team	Reviewed. Reference.
3	2020-10-06 13:32:13	The IthaGenes Curation Team	Reviewed. Links.

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