Human Gene PHIP (uc003pir.3)
  Description: Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.
RefSeq Summary (NM_017934): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr6:79,644,136-79,788,011 Size: 143,876 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 LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:79,644,136-79,788,011)mRNA (may differ from genome)Protein (1821 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.90226-0.482 Picture PostScript Text
3' UTR -1467.036274-0.234 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
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
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on A7J992
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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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  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, A7J992_HUMAN, NM_017934, NP_060404
UCSC ID: uc003pir.3
RefSeq Accession: NM_017934
Protein: A7J992 CCDS: CCDS4987.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017934.5
exon count: 40CDS single in 3' UTR: no RNA size: 11966
ORF size: 5466CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 10589.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.