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PHIP pleckstrin homology domain interacting protein [ Homo sapiens (human) ]

Gene ID: 55023, updated on 4-Oct-2020

Summary

Official Symbol
PHIPprovided by HGNC
Official Full Name
pleckstrin homology domain interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:15673
See related
Ensembl:ENSG00000146247 MIM:612870
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ndrp; BRWD2; DIDOD; WDR11; DCAF14; CHUJANS
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]
Expression
Ubiquitous expression in bone marrow (RPKM 13.2), endometrium (RPKM 7.1) and 25 other tissues See more
Orthologs

Genomic context

See PHIP in Genome Data Viewer
Location:
6q14.1
Exon count:
42
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (78934419..79078294, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (79644136..79788011, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 10524 Neighboring gene uncharacterized LOC107986613 Neighboring gene interleukin 1 receptor associated kinase 1 binding protein 1 Neighboring gene tRNA-Phe (anticodon GAA) 8-1 Neighboring gene nucleoporin 155kDa pseudogene Neighboring gene HMGN3 antisense RNA 1 Neighboring gene high mobility group nucleosomal binding domain 3 Neighboring gene lung cancer associated lncRNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental delay, intellectual disability, obesity, and dysmorphic features
MedGen: C4693860 OMIM: 617991 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-03-28)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-03-28)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20705, FLJ45918, MGC90216

Gene Ontology Provided by GOA

Function Evidence Code Pubs
insulin receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
lysine-acetylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of insulin-like growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mitotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
PH-interacting protein
Names
DDB1 and CUL4 associated factor 14
IRS-1 PH domain-binding protein
WD repeat-containing protein 11

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051932.1 RefSeqGene

    Range
    5045..148880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017934.7NP_060404.4  PH-interacting protein

    Status: REVIEWED

    Source sequence(s)
    AL450327, BF934406, BQ006356, DA500781, DQ924532
    Consensus CDS
    CCDS4987.1
    UniProtKB/Swiss-Prot
    Q8WWQ0
    Related
    ENSP00000275034.3, ENST00000275034.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    78934419..79078294 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248729.5XP_005248786.1  PH-interacting protein isoform X1

    Conserved Domains (5) summary
    cd05496
    Location:13151433
    Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
    cd05529
    Location:11471262
    Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
    COG2319
    Location:178538
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:175495
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:186223
    7WD40; WD40 repeat [structural motif]
  2. XM_017010989.2XP_016866478.1  PH-interacting protein isoform X3

  3. XM_017010990.2XP_016866479.1  PH-interacting protein isoform X3

  4. XM_011535918.3XP_011534220.1  PH-interacting protein isoform X2

    Conserved Domains (5) summary
    cd05496
    Location:11441262
    Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
    cd05529
    Location:9761091
    Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
    COG2319
    Location:6366
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:3323
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:1451
    7WD40; WD40 repeat [structural motif]
  5. XM_011535919.1XP_011534221.1  PH-interacting protein isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:178538
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:175495
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:186223
    7WD40; WD40 repeat [structural motif]
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