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

    Gene ID: 55023, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:15673
    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    6q14.1
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (78934419..79078254, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (80112128..80255969, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (79644136..79787971, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 10524 Neighboring gene NANOG hESC enhancer GRCh37_chr6:79289792-79290318 Neighboring gene uncharacterized LOC107986613 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:79568400-79568966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79577455-79578055 Neighboring gene interleukin 1 receptor associated kinase 1 binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:79680931-79681480 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:79681481-79682028 Neighboring gene tRNA-Phe (anticodon GAA) 8-1 Neighboring gene uncharacterized LOC124901346 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:79756655-79757261 Neighboring gene nucleoporin 155kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79844665-79845165 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:79861851-79862574 Neighboring gene uncharacterized LOC124901347 Neighboring gene MPRA-validated peak5913 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79915779-79916280 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79916281-79916780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:79939419-79939919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79942937-79943727 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79943728-79944517 Neighboring gene HMGN3 antisense RNA 1 Neighboring gene high mobility group nucleosomal binding domain 3

    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
    PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
    MedGen: C4693860 OMIM: 617991 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-04-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-04-13)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20705, FLJ45918, MGC90216

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      A7J992, B2RPK4, Q05CQ9, Q5VVH4, Q66I29, Q69YV1, Q8NBZ5, Q8WWQ0, Q96H52, Q96ME2, Q9H261
      UniProtKB/TrEMBL
      A0A8V8TPK0
      Related
      ENSP00000275034.3, ENST00000275034.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      78934419..79078254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248729.6XP_005248786.1  PH-interacting protein isoform X1

      UniProtKB/TrEMBL
      A0A8V8TPK0, A0A8V8TPV5
      Related
      ENSP00000514809.1, ENST00000700115.1
      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_011535918.4XP_011534220.1  PH-interacting protein isoform X2

      UniProtKB/TrEMBL
      A0A8V8TQM4
      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]
    3. XM_011535919.2XP_011534221.1  PH-interacting protein isoform X3

      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]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      80112128..80255969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355760.1XP_054211735.1  PH-interacting protein isoform X1

    2. XM_054355761.1XP_054211736.1  PH-interacting protein isoform X2

    3. XM_054355762.1XP_054211737.1  PH-interacting protein isoform X3