Seroatlas · Human Serome Atlas

PHIP

PH-interacting protein

Also known as: BRWD2, DCAF14, FLJ20705, ndrp, PHIP_HUMAN, WDR11

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WWQ0
Gene: PHIP
Ensembl: ENSG00000146247
Chromosome: 6
Canonical length: 1821 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli rim

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1821 residues, UniProt reviewed canonical sequence.

>Q8WWQ0|PHIP
     1  MSCERKGLSE LRSELYFLIA RFLEDGPCQQ AAQVLIREVA EKELLPRRTD WTGKEHPRTY
    61  QNLVKYYRHL APDHLLQICH RLGPLLEQEI PQSVPGVQTL LGAGRQSLLR TNKSCKHVVW
   121  KGSALAALHC GRPPESPVNY GSPPSIADTL FSRKLNGKYR LERLVPTAVY QHMKMHKRIL
   181  GHLSSVYCVT FDRTGRRIFT GSDDCLVKIW ATDDGRLLAT LRGHAAEISD MAVNYENTMI
   241  AAGSCDKMIR VWCLRTCAPL AVLQGHSASI TSLQFSPLCS GSKRYLSSTG ADGTICFWLW
   301  DAGTLKINPR PAKFTERPRP GVQMICSSFS AGGMFLATGS TDHIIRVYFF GSGQPEKISE
   361  LEFHTDKVDS IQFSNTSNRF VSGSRDGTAR IWQFKRREWK SILLDMATRP AGQNLQGIED
   421  KITKMKVTMV AWDRHDNTVI TAVNNMTLKV WNSYTGQLIH VLMGHEDEVF VLEPHPFDPR
   481  VLFSAGHDGN VIVWDLARGV KIRSYFNMIE GQGHGAVFDC KCSPDGQHFA CTDSHGHLLI
   541  FGFGSSSKYD KIADQMFFHS DYRPLIRDAN NFVLDEQTQQ APHLMPPPFL VDVDGNPHPS
   601  RYQRLVPGRE NCREEQLIPQ MGVTSSGLNQ VLSQQANQEI SPLDSMIQRL QQEQDLRRSG
   661  EAVISNTSRL SRGSISSTSE VHSPPNVGLR RSGQIEGVRQ MHSNAPRSEI ATERDLVAWS
   721  RRVVVPELSA GVASRQEEWR TAKGEEEIKT YRSEEKRKHL TVPKENKIPT VSKNHAHEHF
   781  LDLGESKKQQ TNQHNYRTRS ALEETPRPSE EIENGSSSSD EGEVVAVSGG TSEEEERAWH
   841  SDGSSSDYSS DYSDWTADAG INLQPPKKVP KNKTKKAESS SDEEEESEKQ KQKQIKKEKK
   901  KVNEEKDGPI SPKKKKPKER KQKRLAVGEL TENGLTLEEW LPSTWITDTI PRRCPFVPQM
   961  GDEVYYFRQG HEAYVEMARK NKIYSINPKK QPWHKMELRE QELMKIVGIK YEVGLPTLCC
  1021  LKLAFLDPDT GKLTGGSFTM KYHDMPDVID FLVLRQQFDD AKYRRWNIGD RFRSVIDDAW
  1081  WFGTIESQEP LQLEYPDSLF QCYNVCWDNG DTEKMSPWDM ELIPNNAVFP EELGTSVPLT
  1141  DGECRSLIYK PLDGEWGTNP RDEECERIVA GINQLMTLDI ASAFVAPVDL QAYPMYCTVV
  1201  AYPTDLSTIK QRLENRFYRR VSSLMWEVRY IEHNTRTFNE PGSPIVKSAK FVTDLLLHFI
  1261  KDQTCYNIIP LYNSMKKKVL SDSEDEEKDA DVPGTSTRKR KDHQPRRRLR NRAQSYDIQA
  1321  WKKQCEELLN LIFQCEDSEP FRQPVDLLEY PDYRDIIDTP MDFATVRETL EAGNYESPME
  1381  LCKDVRLIFS NSKAYTPSKR SRIYSMSLRL SAFFEEHISS VLSDYKSALR FHKRNTITKR
  1441  RKKRNRSSSV SSSAASSPER KKRILKPQLK SESSTSAFST PTRSIPPRHN AAQINGKTES
  1501  SSVVRTRSNR VVVDPVVTEQ PSTSSAAKTF ITKANASAIP GKTILENSVK HSKALNTLSS
  1561  PGQSSFSHGT RNNSAKENME KEKPVKRKMK SSVLPKASTL SKSSAVIEQG DCKNNALVPG
  1621  TIQVNGHGGQ PSKLVKRGPG RKPKVEVNTN SGEIIHKKRG RKPKKLQYAK PEDLEQNNVH
  1681  PIRDEVLPSS TCNFLSETNN VKEDLLQKKN RGGRKPKRKM KTQKLDADLL VPASVKVLRR
  1741  SNRKKIDDPI DEEEEFEELK GSEPHMRTRN QGRRTAFYNE DDSEEEQRQL LFEDTSLTFG
  1801  TSSRGRVRKL TEKAKANLIG W

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHIP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 30 nTPM
retina: 21 nTPM
thymus: 14 nTPM
breast: 13 nTPM
cerebellum: 12 nTPM
endometrium: 12 nTPM

Single-cell type

sertoli cells: 619 nCPM
neutrophil progenitors: 588 nCPM
neutrophils: 584 nCPM
lactotrophs: 503 nCPM
gonadotrophs: 499 nCPM
pituicytes/fscs: 494 nCPM

Immune cell

basophil: 6.1 nTPM
neutrophil: 5.3 nTPM
eosinophil: 4.5 nTPM
memory CD8 T-cell: 3.5 nTPM
naive B-cell: 3.5 nTPM
naive CD4 T-cell: 3.5 nTPM

Brain region

cerebellum: 46 nTPM
white matter: 35 nTPM
basal ganglia: 27 nTPM
medulla oblongata: 26 nTPM
pons: 26 nTPM
hypothalamus: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHIP.

Disease | AllUniProt

Conditions PHIP is implicated in, by any mechanism.

Chung-Jansen syndrome (CHUJANS) MIM:617991

Disease | GeneticClinVar

181 pathogenic / likely-pathogenic of 1,335 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Inborn genetic diseases
PHIP-related disorder
See cases
Early onset severe obesity

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.11
gnomAD pLI: 1
gnomAD missense Z: 5.14
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PHIP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PHIP as an antibody target. Whether an autoantibody or antibody against PHIP could matter depends on whether native PHIP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHIP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PHIP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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