SIL1, S. Cerevisiae, Homolog of

Alternative Names

  • SIL1
  • BIP-Associated Protein
  • BAP

Associated Diseases

Marinesco-Sjogren Syndrome
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OMIM Number

608005

NCBI Gene ID

64374

Uniprot ID

Q9H173

Length

346,834 bases

No. of Exons

13

No. of isoforms

1

Protein Name

Nucleotide Exchange Factor SIL1

Molecular Mass

52085 Da

Amino Acid Count

461

Genomic Location

chr5:138,946,723-139,198,367

Gene Map Locus
5q31.2

Description

The SIL1 gene encodes the nucleotide exchange factor SIL1 for the endoplasmic reticulum resident heat-shock protein 70 chaperone BiP (also known as GRP78). As a nucleotide exchange factor, SIL1 induces ADP release and ATP binding of BiP. BiP is encoded by the HSPA5 gene; it functions in protein translocation, synthesis, and quality control and senses and responds to stressful cellular conditions.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACTUnited Arab EmiratesNC_000005.10:g.139127754_139198367delinsAGTGAACTGAGAAAGTACAGMarinesco-Sjogren SyndromeNG_008112.1:g.5010_75623delinsCTGTACTTTCTCAGTTCACT; NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
NM_022464.5:c.1030-9G>ASaudi Arabiachr5:138947482PathogenicMarinesco-Sjogren SyndromeNG_008112.2:g.255895G>A; NM_022464.5:c.1030-9G>A370290043280106
NM_022464.5:c.1312C>TEgyptchr5:138947191PathogenicMarinesco-Sjogren SyndromeNG_008112.2:g.256186C>T; NM_022464.5:c.1312C>T; NP_071909.1:p.Gln438Ter1194569662627
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