PPFIA4 - PTPRF interacting protein alpha 4 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8497

About PPFIA4

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,026,491-203,078,736 (from NCBI)

This gene has 15 transcripts (splice variants), 210 orthologues and 5 paralogues. Biased expression in brain (RPKM 8.9), heart (RPKM 8.4) and 10 other tissues.

Summary

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

PPFIA4 Products (10)

mRNA Protein Name
NM_001304331.2 NP_001291260.1 liprin-alpha-4 isoform 1
NM_001304332.2 NP_001291261.1 liprin-alpha-4 isoform 2
NM_001393950.1 NP_001380879.1 liprin-alpha-4 isoform 3
NM_001393951.1 NP_001380880.1 liprin-alpha-4 isoform 4
NM_001393952.1 NP_001380881.1 liprin-alpha-4 isoform 5
NM_001393953.1 NP_001380882.1 liprin-alpha-4 isoform 6
NM_001393954.1 NP_001380883.1 liprin-alpha-4 isoform 7
NM_001393955.1 NP_001380884.1 liprin-alpha-4 isoform 8
NM_001393956.1 NP_001380885.1 liprin-alpha-4 isoform 9
NM_001393957.1 NP_001380886.1 liprin-alpha-4 isoform 10
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12923177 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPFIA4 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (828 - 891)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (944 - 1006)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1029 - 1098)

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  • 1185 a.a.
Protein Preferred Names Protein Names

liprin-alpha-4

  • protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

Related Diseases

Diseases Alias
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
  • Cloves Syndrome

  • Clove Syndrome

  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities

  • Clove Syndrome, Somatic

  • Nevus

  • Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi

  • Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome

  • Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome

  • CLOVE

  • Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities

  • Congenital Arteriovenous Malformation

  • Arteriovenous Hemangioma

  • Melanocytic Nevus

  • Benign Melanocytic Nevus

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PPFIA4 VGNC VGNC:33192
Rattus norvegicus PPFIA4 RGD RGD:620055
Canis familiaris PPFIA4 VGNC VGNC:44846
Mus musculus PPFIA4 MGD MGI:1915757
Felis catus PPFIA4 VGNC VGNC:68984
Macaca mulatta PPFIA4 VGNC VGNC:76237
Others PPFIA4 NCBI