PTPRF-Interacting Protein Alpha-1

Alternative Names

  • PPFIA1
  • Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-1
  • LAR-Interacting Protein 1
  • LIP1
  • Liprin-Alpha-1
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OMIM Number

611054

NCBI Gene ID

8500

Uniprot ID

Q13136

Length

113,707 bases

No. of Exons

35

No. of isoforms

2

Protein Name

Liprin-alpha-1

Molecular Mass

135779 Da

Amino Acid Count

1202

Genomic Location

chr11:70,270,690-70,384,396

Gene Map Locus
11q13.3

Description

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003626.5:c.1070A>GSyriaNC_000011.10:g.70330312A>GLikely PathogenicNM_003626.5:c.1070A>G; NP_003617.1:p.His357Arg1404029485
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