PLEKHB1 - pleckstrin homology domain containing B1 Gene

Homo sapiens

Also known as KPL1; PHR1; PHRET1

Gene ID: 58473 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24705354	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10685	PLEKHB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.