PHLDB1 - pleckstrin homology like domain family B member 1 Gene

Also Known as LL5A; LL5alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23187

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	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21653829	GOA

Biological Process GO Annotation	Evidence	Références	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	Références	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

PH

0
300
600
900
1200
1377 a.a.

Protein Preferred Names	Protein Names
pleckstrin homology-like domain family B member 1	protein LL5-alpha

PHLDB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PHLDB1	Q86UU1	FXR1	Homo sapiens	P51114	Anti Tag CoIP	21653829
Intra	PHLDB1	Q86UU1	FXR1	Homo sapiens	P51114	Y2H Pooling	21653829

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10445	PHLDB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PHLDB1	NCBI