PHLDB1 - pleckstrin homology like domain family B member 1 Gene

Homo sapiens

Also known as LL5A; LL5alpha

Gene ID: 23187 | Gene type: protein coding

About PHLDB1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,606,436-118,658,028 (from NCBI)

This gene has 27 transcripts (splice variants), 325 orthologues and 7 paralogues. Ubiquitous expression in fat (RPKM 23.2), brain (RPKM 15.4) and 23 other tissues.

Summary

Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule Cytoskeleton organization. Located in basal cortex. [provided by Alliance of Genome Resources, Apr 2022]

PHLDB1 Products(3)

mRNA	Protein	Name
NM_001144758.3	NP_001138230.1	pleckstrin homology-like domain family B member 1 isoform a
NM_001144759.3	NP_001138231.1	pleckstrin homology-like domain family B member 1 isoform b
NM_015157.4	NP_055972.1	pleckstrin homology-like domain family B member 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21653829	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IGI IGI: Inferred from genetic interaction	23940118	GOA
involved in positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP IMP: Inferred from mutant phenotype	23940118	GOA
involved in regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	23940118	GOA
involved in regulation of gastrulation	IMP IMP: Inferred from mutant phenotype	23940118	GOA
involved in regulation of microtubule cytoskeleton organization	IGI IGI: Inferred from genetic interaction	23940118	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basal cortex	IDA IDA: Inferred from direct assay	23940118	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

PHLDB1 Protein Structure

0
300
600
900
1200
1377 a.a.

Protein Preferred Names

Protein Names

pleckstrin homology-like domain family B member 1

protein LL5-alpha

Related Diseases

Diseases

Alias

Melanoma-Astrocytoma Syndrome

Melanoma And Neural System Tumor Syndrome	Melanoma Astrocytoma Syndrome
MASTS

Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits

Mixed Glioma

Mixed Gliomas	Mixed Neuroglial Tumor
Glioma

Enchondromatosis, Multiple, Ollier Type

Ollier Disease	Enchondromatosis
Dyschondroplasia	Osteochondromatosis
Multiple Cartilaginous Enchondroses	Multiple Enchondromatosis
Enchondromatosis With Haemangiomata	Enchondromatosis, Multiple
Kast'S Syndrome	Ollier'S Syndrome
Enchondromatosis Multiple	ENCHOM
Maffucci Disease	Olliers Disease
Hereditary Multiple Exostoses	Chondromatosis

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni	Sbla Syndrome
LFS	Li-Fraumeni Familiar Cancer Susceptibility Syndrome
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome	Lfs1
Li Fraumeni Syndrome	Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
Lfl	Sbla Syndrome Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome 1

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-RS10445	PHLDB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PHLDB1	VGNC	VGNC:101378
Felis catus	PHLDB1	VGNC	VGNC:64149
Rattus norvegicus	PHLDB1	RGD	RGD:620878
Canis familiaris	PHLDB1	VGNC	VGNC:44502
Bos taurus	PHLDB1	VGNC	VGNC:32837
Mus musculus	PHLDB1	MGD	MGI:2143230

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