PLEKHB1 - pleckstrin homology domain containing B1 Gene

Also Known as KPL1; PHR1; PHRET1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 58473

About PLEKHB1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:73,646,581-73,662,819 (from NCBI)

This gene has 22 transcripts (splice variants), 200 orthologues and 1 paralogue. Biased expression in brain (RPKM 91.0), thyroid (RPKM 7.0) and 2 other tissues.

Summary

Predicted to enable protein C-terminus binding activity and protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHB1 Products (5)

mRNA Protein Name
NM_001130033.2 NP_001123505.1 pleckstrin homology domain-containing family B member 1 isoform c
NM_001130034.2 NP_001123506.1 pleckstrin homology domain-containing family B member 1 isoform b
NM_001130035.2 NP_001123507.1 pleckstrin homology domain-containing family B member 1 isoform d
NM_001130036.2 NP_001123508.1 pleckstrin homology domain-containing family B member 1 isoform d
NM_021200.3 NP_067023.1 pleckstrin homology domain-containing family B member 1 isoform a
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
24705354 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in membrane IDA
IDA: Inferred from direct assay
10585447 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
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family B member 1

  • PH domain containing, retinal 1

PLEKHB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
PLEKHB1 Q9UF11 RAP1GDS1 Homo sapiens P52306 25416956
Intra
PLEKHB1 Q9UF11 RAP1GDS1 Homo sapiens P52306 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinitis Pigmentosa 56
  • RP56

  • Maculopathy, Impg2-Related

  • MACLP-IMPG2

  • Retinitis Pigmentosa, Type 56

Wallerian Degeneration
  • Wallerian Degeneration Of The Pyramidal Tract

Female Breast Cancer
  • Female Breast Carcinoma

  • Carcinoma Of Female Breast

  • Mammary Carcinoma Of Female Breast

  • Malignant Neoplasm Of Female Breast

Amyotrophic Lateral Sclerosis Type 12
  • Amyotrophic Lateral Sclerosis 12

  • Als12

  • Sclerosis, Lateral, Amyotrophic, Type Type 12

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
Macaca mulatta PLEKHB1 VGNC VGNC:76069
Felis catus PLEKHB1 VGNC VGNC:64221
Bos taurus PLEKHB1 VGNC VGNC:33009
Canis familiaris PLEKHB1 VGNC VGNC:44672
Mus musculus PLEKHB1 MGD MGI:1351469
Rattus norvegicus PLEKHB1 RGD RGD:621614
Others PLEKHB1 NCBI