Signal Peptide Peptidase-Like 3

Alternative Names

  • SPPLL3
  • SPP-Like 3
  • Intramembrane Protease 2
  • IMP2
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OMIM Number

608240

NCBI Gene ID

121665

Uniprot ID

Q8TCT6

Length

141,849 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Signal peptide peptidase-like 3

Molecular Mass

42261 Da

Amino Acid Count

384

Genomic Location

chr12:120,762,509-120,904,357

Gene Map Locus
12q24.31

Description

Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in several processes, including T cell receptor signaling pathway; positive regulation of calcineurin-NFAT signaling cascade; and positive regulation of protein dephosphorylation. Located in Golgi-associated vesicle membrane; plasma membrane; and rough endoplasmic reticulum. Is integral component of cytoplasmic side of endoplasmic reticulum membrane and integral component of lumenal side of endoplasmic reticulum membrane. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_139015.4:c.23+43833C>TUnited Arab EmiratesNC_000012.12:g.120860012G>ANM_139015.4:c.23+43833C>T; NP_620584.2:p.?11065299
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