Human Gene PHIP (ENST00000275034.5_8) from GENCODE V47lift37
  Description: pleckstrin homology domain interacting protein (from RefSeq NM_017934.7)
Gencode Transcript: ENST00000275034.5_8
Gencode Gene: ENSG00000146247.15_11
Transcript (Including UTRs)
   Position: hg19 chr6:79,644,136-79,787,971 Size: 143,836 Total Exon Count: 40 Strand: -
Coding Region
   Position: hg19 chr6:79,650,410-79,787,785 Size: 137,376 Coding Exon Count: 40 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:79,644,136-79,787,971)mRNA (may differ from genome)Protein (1821 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHIP_HUMAN
DESCRIPTION: RecName: Full=PH-interacting protein; Short=PHIP; AltName: Full=IRS-1 PH domain-binding protein; AltName: Full=WD repeat-containing protein 11;
FUNCTION: Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti- apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.
SUBUNIT: Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine residues on histone H1.4, histone H3 and H4 (in vitro).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in myeloma and epidermoid carcinoma cell lines.
SIMILARITY: Contains 2 bromo domains.
SIMILARITY: Contains 8 WD repeats.
SEQUENCE CAUTION: Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAC11417.1; Type=Frameshift; Positions=1648;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PHIP
Diseases sorted by gene-association score: melanoma metastasis (19), phimosis (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 262.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.70186-0.402 Picture PostScript Text
3' UTR -1388.906274-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS
IPR011047 - Quinonprotein_ADH-like
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF00439 - Bromodomain

SCOP Domains:
47370 - Bromodomain
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MB3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WWQ0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005158 insulin receptor binding
GO:0005515 protein binding
GO:0070577 lysine-acetylated histone binding

Biological Process:
GO:0001932 regulation of protein phosphorylation
GO:0007010 cytoskeleton organization
GO:0008284 positive regulation of cell proliferation
GO:0008286 insulin receptor signaling pathway
GO:0008360 regulation of cell shape
GO:0022604 regulation of cell morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0045840 positive regulation of mitotic nuclear division
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC081569 - Homo sapiens pleckstrin homology domain interacting protein, mRNA (cDNA clone IMAGE:4942836), complete cds.
AL161957 - Homo sapiens mRNA; cDNA DKFZp761A07121 (from clone DKFZp761A07121).
AJ303102 - Homo sapiens partial mRNA for WD repeat domain 11 protein (WDR11 gene).
BC144670 - Homo sapiens cDNA clone IMAGE:9053201, containing frame-shift errors.
BC137488 - Homo sapiens pleckstrin homology domain interacting protein, mRNA (cDNA clone MGC:169111 IMAGE:9021488), complete cds.
DQ924532 - Homo sapiens pleckstrin homology domain-interacting protein variant 1 (PHIP) mRNA, complete cds.
BX537762 - Homo sapiens mRNA; cDNA DKFZp779F0411 (from clone DKFZp779F0411).
AL049321 - Homo sapiens mRNA; cDNA DKFZp564D156 (from clone DKFZp564D156).
BC008909 - Homo sapiens pleckstrin homology domain interacting protein, mRNA (cDNA clone IMAGE:3830844), partial cds.
AF310250 - Homo sapiens IRS-1 PH domain binding protein PHIP variant 9 mRNA, complete cds.
AK075124 - Homo sapiens cDNA FLJ90643 fis, clone PLACE1004166, weakly similar to CREB-BINDING PROTEIN.
AK000712 - Homo sapiens cDNA FLJ20705 fis, clone KAIA1571.
JD058666 - Sequence 39690 from Patent EP1572962.
JD506915 - Sequence 487939 from Patent EP1572962.
JD224865 - Sequence 205889 from Patent EP1572962.
JD068790 - Sequence 49814 from Patent EP1572962.
KJ902745 - Synthetic construct Homo sapiens clone ccsbBroadEn_12139 PHIP gene, encodes complete protein.
KJ904790 - Synthetic construct Homo sapiens clone ccsbBroadEn_14184 PHIP-like gene, encodes complete protein.
BC064611 - Homo sapiens pleckstrin homology domain interacting protein, mRNA (cDNA clone IMAGE:5581575).
CU679183 - Synthetic construct Homo sapiens gateway clone IMAGE:100020722 5' read PHIP mRNA.
CU687356 - Synthetic construct Homo sapiens gateway clone IMAGE:100022825 5' read PHIP mRNA.
JD349486 - Sequence 330510 from Patent EP1572962.
AK057039 - Homo sapiens cDNA FLJ32477 fis, clone SKNMC2000698, highly similar to Mus musculus ndrp mRNA for neuronal differentiaion related protein.
AK127816 - Homo sapiens cDNA FLJ45918 fis, clone PLACE6000055, highly similar to Mus musculus ndrp mRNA for neuronal differentiaion related protein.
BC021905 - Homo sapiens pleckstrin homology domain interacting protein, mRNA (cDNA clone IMAGE:4341693), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A7J992, B2RPK4, DCAF14, ENST00000275034.1, ENST00000275034.2, ENST00000275034.3, ENST00000275034.4, NM_017934, PHIP_HUMAN, Q05CQ9, Q5VVH4, Q66I29, Q69YV1, Q8NBZ5, Q8WWQ0, Q96H52, Q96ME2, Q9H261, uc317jhb.1, uc317jhb.2, WDR11
UCSC ID: ENST00000275034.5_8
RefSeq Accession: NM_017934.7
Protein: Q8WWQ0 (aka PHIP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.