GeneID: 391
Names
Common Name: | SAR1AP3-PRDM5 | Type: | Intergenic Region |
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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
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
A/A | Date | Curator(s) | Comments |
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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. |