country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Country or Region:

United States

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

PHIP - pleckstrin homology domain interacting protein Gene

Also Known as ndrp; BRWD2; DIDOD; WDR11; DCAF14; CHUJANS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55023

About PHIP

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:78,934,419-79,078,254 (from NCBI)

This gene has 15 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.2), endometrium (RPKM 7.1) and 25 other tissues.

Summary

This gene encodes a protein that binds to the Insulin Receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

PHIP Products (1)

mRNA	Protein	Name
NM_017934.7	NP_060404.4	PH-interacting protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables lysine-acetylated histone binding	IDA IDA: Inferred from direct assay	22464331	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11018022	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21834987	GOA
acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	17636024	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17636024	GOA
involved in regulation of cell morphogenesis	IMP IMP: Inferred from mutant phenotype	21834987	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	25593309	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

PHIP Protein Structure

WD40

Bromodomain

0
300
600
900
1200
1500
1821 a.a.

Protein Preferred Names	Protein Names
PH-interacting protein	DDB1 and CUL4 associated factor 14

Related Diseases

Diseases	Alias
Chung-Jansen Syndrome	CHUJANS Developmental Delay, Intellectual Disability, Obesity, And Dysmorphism Didod Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Chung-Jansen Syndrome
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Syndromic Intellectual Disability
Schuurs-Hoeijmakers Syndrome	SHMS Pacs1-Related Syndrome Mrd17 Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome Intellectual Developmental Disorder, Autosomal Dominant 17 Autosomal Dominant Intellectual Disability-17 Autosomal Dominant Mental Retardation 17 Pacs1 Syndrome Mental Retardation, Autosomal Dominant 17
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type Jansen'S Metaphyseal Chondrodysplasia MCDJ Murk Jansen Type Metaphyseal Chondrodysplasia Jansen Type Metaphyseal Chondrodysplasia Jansen Disease Jansen Metaphyseal Chondrodysplasia Jansen Metaphyseal Dysostosis Metaphyseal Chondrodysplasia Murk Jansen Type Chondrodysplasia, Metaphyseal, Murk Jansen Type
Phimosis	Tight Foreskin Tight Frenulum Congenital Phimosis
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-118716	PhIP		99.93%	Phase 1

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-118716S	PhIP-d3		/	Unkown
HY-N16528	(-)-Byakangelicin		/	Unkown
HY-RS10436	PHIP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-118716R	PhIP (Standard)		/	Unkown
HY-RS21408	Phip Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27927	Phip Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PHIP	RGD	RGD:1564964
Canis familiaris	PHIP	VGNC	VGNC:44495
Macaca mulatta	PHIP	VGNC	VGNC:75803
Mus musculus	PHIP	MGD	MGI:1932404
Bos taurus	PHIP	VGNC	VGNC:32829
Felis catus	PHIP	VGNC	VGNC:64148
Others	PHIP	NCBI