Seroatlas · Human Serome Atlas

PPIP5K2

Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2

Also known as: CFAP160, DFNB100, HISPPD1, KIAA0433, VIP2, VIP2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O43314
Gene: PPIP5K2
Ensembl: ENSG00000145725
Chromosome: 5
Canonical length: 1243 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

1243 residues, UniProt reviewed canonical sequence.

>O43314|PPIP5K2
     1  MSEAPRFFVG PEDTEINPGN YRHFFHHADE DDEEEDDSPP ERQIVVGICS MAKKSKSKPM
    61  KEILERISLF KYITVVVFEE EVILNEPVEN WPLCDCLISF HSKGFPLDKA VAYAKLRNPF
   121  VINDLNMQYL IQDRREVYSI LQAEGILLPR YAILNRDPNN PKECNLIEGE DHVEVNGEVF
   181  QKPFVEKPVS AEDHNVYIYY PTSAGGGSQR LFRKIGSRSS VYSPESNVRK TGSYIYEEFM
   241  PTDGTDVKVY TVGPDYAHAE ARKSPALDGK VERDSEGKEV RYPVILNARE KLIAWKVCLA
   301  FKQTVCGFDL LRANGQSYVC DVNGFSFVKN SMKYYDDCAK ILGNIVMREL APQFHIPWSI
   361  PLEAEDIPIV PTTSGTMMEL RCVIAVIRHG DRTPKQKMKM EVRHQKFFDL FEKCDGYKSG
   421  KLKLKKPKQL QEVLDIARQL LMELGQNNDS EIEENKPKLE QLKTVLEMYG HFSGINRKVQ
   481  LTYLPHGCPK TSSEEEDSRR EEPSLLLVLK WGGELTPAGR VQAEELGRAF RCMYPGGQGD
   541  YAGFPGCGLL RLHSTYRHDL KIYASDEGRV QMTAAAFAKG LLALEGELTP ILVQMVKSAN
   601  MNGLLDSDSD SLSSCQQRVK ARLHEILQKD RDFTAEDYEK LTPSGSISLI KSMHLIKNPV
   661  KTCDKVYSLI QSLTSQIRHR MEDPKSSDIQ LYHSETLELM LRRWSKLEKD FKTKNGRYDI
   721  SKIPDIYDCI KYDVQHNGSL KLENTMELYR LSKALADIVI PQEYGITKAE KLEIAKGYCT
   781  PLVRKIRSDL QRTQDDDTVN KLHPVYSRGV LSPERHVRTR LYFTSESHVH SLLSILRYGA
   841  LCNESKDEQW KRAMDYLNVV NELNYMTQIV IMLYEDPNKD LSSEERFHVE LHFSPGAKGC
   901  EEDKNLPSGY GYRPASRENE GRRPFKIDND DEPHTSKRDE VDRAVILFKP MVSEPIHIHR
   961  KSPLPRSRKT ATNDEESPLS VSSPEGTGTW LHYTSGVGTG RRRRRSGEQI TSSPVSPKSL
  1021  AFTSSIFGSW QQVVSENANY LRTPRTLVEQ KQNPTVGSHC AGLFSTSVLG GSSSAPNLQD
  1081  YARTHRKKLT SSGCIDDATR GSAVKRFSIS FARHPTNGFE LYSMVPSICP LETLHNALSL
  1141  KQVDEFLASI ASPSSDVPRK TAEISSTALR SSPIMRKKVS LNTYTPAKIL PTPPATLKST
  1201  KASSKPATSG PSSAVVPNTS SRKKNITSKT ETHEHKKNTG KKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPIP5K2 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): 0.37
Highest tissue expression: 42 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 42 nTPM
thymus: 22 nTPM
colon: 22 nTPM
ovary: 21 nTPM
blood vessel: 21 nTPM
liver: 21 nTPM

Single-cell type

neutrophil progenitors: 288 nCPM
somatotrophs: 212 nCPM
lactotrophs: 207 nCPM
erythrocyte progenitors: 199 nCPM
thyrotrophs: 161 nCPM
corticotrophs: 160 nCPM

Immune cell

basophil: 39 nTPM
eosinophil: 36 nTPM
non-classical monocyte: 28 nTPM
myeloid DC: 22 nTPM
intermediate monocyte: 19 nTPM
classical monocyte: 19 nTPM

Brain region

cerebellum: 71 nTPM
pons: 61 nTPM
medulla oblongata: 61 nTPM
cerebral cortex: 59 nTPM
midbrain: 55 nTPM
white matter: 52 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPIP5K2.

Disease | AllUniProt

Conditions PPIP5K2 is implicated in, by any mechanism.

Deafness, autosomal recessive, 100 (DFNB100) MIM:618422

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): 0.82
gnomAD pLI: 0
gnomAD missense Z: 3.8
DepMap mean gene effect: -0.17
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PPIP5K2 as an antibody target. Whether an autoantibody or antibody against PPIP5K2 could matter depends on whether native PPIP5K2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPIP5K2 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 PPIP5K2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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