• Gene id: 55023

Gene Summary

• Gene Symbol: PHIP   Gene   UCSC   Ensembl
• Aliases: BRWD2, CHUJANS, DCAF14, DIDOD, WDR11, ndrp
• Gene name: pleckstrin homology domain interacting protein
• Alternate names: PH-interacting protein, DDB1 and CUL4 associated factor 14, IRS-1 PH domain-binding protein, WD repeat-containing protein 11,
• Gene location: 6q14.1 (110738144: 110765156)     Exons: 10     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 612870

Protein Summary

• Protein general information: Q8WWQ0  
  • Name: PH interacting protein (PHIP) (DDB1 and CUL4 associated factor 14) (IRS 1 PH domain binding protein) (WD repeat containing protein 11)
  • Length: 1821  
  • Mass: 206689
  • Tissue specificity: Expressed in myeloma and epidermoid carcinoma cell lines. {ECO
• Sequence:

  MSCERKGLSELRSELYFLIARFLEDGPCQQAAQVLIREVAEKELLPRRTDWTGKEHPRTYQNLVKYYRHLAPDHL
  LQICHRLGPLLEQEIPQSVPGVQTLLGAGRQSLLRTNKSCKHVVWKGSALAALHCGRPPESPVNYGSPPSIADTL
  FSRKLNGKYRLERLVPTAVYQHMKMHKRILGHLSSVYCVTFDRTGRRIFTGSDDCLVKIWATDDGRLLATLRGHA
  AEISDMAVNYENTMIAAGSCDKMIRVWCLRTCAPLAVLQGHSASITSLQFSPLCSGSKRYLSSTGADGTICFWLW
  DAGTLKINPRPAKFTERPRPGVQMICSSFSAGGMFLATGSTDHIIRVYFFGSGQPEKISELEFHTDKVDSIQFSN
  TSNRFVSGSRDGTARIWQFKRREWKSILLDMATRPAGQNLQGIEDKITKMKVTMVAWDRHDNTVITAVNNMTLKV
  WNSYTGQLIHVLMGHEDEVFVLEPHPFDPRVLFSAGHDGNVIVWDLARGVKIRSYFNMIEGQGHGAVFDCKCSPD
  GQHFACTDSHGHLLIFGFGSSSKYDKIADQMFFHSDYRPLIRDANNFVLDEQTQQAPHLMPPPFLVDVDGNPHPS
  RYQRLVPGRENCREEQLIPQMGVTSSGLNQVLSQQANQEISPLDSMIQRLQQEQDLRRSGEAVISNTSRLSRGSI
  SSTSEVHSPPNVGLRRSGQIEGVRQMHSNAPRSEIATERDLVAWSRRVVVPELSAGVASRQEEWRTAKGEEEIKT
  YRSEEKRKHLTVPKENKIPTVSKNHAHEHFLDLGESKKQQTNQHNYRTRSALEETPRPSEEIENGSSSSDEGEVV
  AVSGGTSEEEERAWHSDGSSSDYSSDYSDWTADAGINLQPPKKVPKNKTKKAESSSDEEEESEKQKQKQIKKEKK
  KVNEEKDGPISPKKKKPKERKQKRLAVGELTENGLTLEEWLPSTWITDTIPRRCPFVPQMGDEVYYFRQGHEAYV
  EMARKNKIYSINPKKQPWHKMELREQELMKIVGIKYEVGLPTLCCLKLAFLDPDTGKLTGGSFTMKYHDMPDVID
  FLVLRQQFDDAKYRRWNIGDRFRSVIDDAWWFGTIESQEPLQLEYPDSLFQCYNVCWDNGDTEKMSPWDMELIPN
  NAVFPEELGTSVPLTDGECRSLIYKPLDGEWGTNPRDEECERIVAGINQLMTLDIASAFVAPVDLQAYPMYCTVV
  AYPTDLSTIKQRLENRFYRRVSSLMWEVRYIEHNTRTFNEPGSPIVKSAKFVTDLLLHFIKDQTCYNIIPLYNSM
  KKKVLSDSEDEEKDADVPGTSTRKRKDHQPRRRLRNRAQSYDIQAWKKQCEELLNLIFQCEDSEPFRQPVDLLEY
  PDYRDIIDTPMDFATVRETLEAGNYESPMELCKDVRLIFSNSKAYTPSKRSRIYSMSLRLSAFFEEHISSVLSDY
  KSALRFHKRNTITKRRKKRNRSSSVSSSAASSPERKKRILKPQLKSESSTSAFSTPTRSIPPRHNAAQINGKTES
  SSVVRTRSNRVVVDPVVTEQPSTSSAAKTFITKANASAIPGKTILENSVKHSKALNTLSSPGQSSFSHGTRNNSA
  KENMEKEKPVKRKMKSSVLPKASTLSKSSAVIEQGDCKNNALVPGTIQVNGHGGQPSKLVKRGPGRKPKVEVNTN
  SGEIIHKKRGRKPKKLQYAKPEDLEQNNVHPIRDEVLPSSTCNFLSETNNVKEDLLQKKNRGGRKPKRKMKTQKL
  DADLLVPASVKVLRRSNRKKIDDPIDEEEEFEELKGSEPHMRTRNQGRRTAFYNEDDSEEEQRQLLFEDTSLTFG
  TSSRGRVRKLTEKAKANLIGW

• Structural information:
  • Protein Domains: (1176..124-)
    (/note="Bromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (1333..140-)
    (/note="Bromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR001487  IPR036427  IPR018359  IPR028738  IPR015943   IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00633 PS50014 PS00678 PS50082 PS50294
  • PDB: 3MB3 5ENB 5ENC 5ENE 5ENF 5ENH 5ENI 5ENJ
  • PDBsum: 3MB3 5ENB 5ENC 5ENE 5ENF 5ENH 5ENI 5ENJ
  • STRING: ENSP00000275034
• Other Databases: GeneCards:  PHIP  Malacards:  PHIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008360	regulation of cell shape	IBA	biological process
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0045840	positive regulation of mitotic nuclear division	ISS	biological process
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	ISS	biological process
GO:0022604	regulation of cell morphogenesis	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0001932	regulation of protein phosphorylation	ISS	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0005158	insulin receptor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005158	insulin receptor binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008286	insulin receptor signaling pathway	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq