Seroatlas · Human Serome Atlas

PPFIBP1

Liprin-beta-1

Also known as: hSGT2, hSgt2p, L2, LIPB1_HUMAN, SGT2

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

Protein identityUniProt · HPA

UniProt accession: Q86W92
Gene: PPFIBP1
Ensembl: ENSG00000110841
Chromosome: 12
Canonical length: 1011 aa
Protein class: Cancer-related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Plasma membrane
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1011 residues, UniProt reviewed canonical sequence.

>Q86W92|PPFIBP1
     1  MMSDASDMLA AALEQMDGII AGSKALEYSN GIFDCQSPTS PFMGSLRALH LVEDLRGLLE
    61  MMETDEKEGL RCQIPDSTAE TLVEWLQSQM TNGHLPGNGD VYQERLARLE NDKESLVLQV
   121  SVLTDQVEAQ GEKIRDLEFC LEEHREKVNA TEEMLQQELL SRTSLETQKL DLMAEISNLK
   181  LKLTAVEKDR LDYEDKFRDT EGLIQEINDL RLKVSEMDSE RLQYEKKLKS TKSLMAKLSS
   241  MKIKVGQMQY EKQRMEQKWE SLKDELASLK EQLEEKESEV KRLQEKLVCK MKGEGVEIVD
   301  RDIEVQKMKK AVESLMAANE EKDRKIEDLR QCLNRYKKMQ DTVVLAQGKD GEYEELLNSS
   361  SISSLLDAQG FSDLEKSPSP TPVMGSPSCD PFNTSVPEEF HTTILQVSIP SLLPATVSME
   421  TSEKSKLTPK PETSFEENDG NIILGATVDT QLCDKLLTSS LQKSSSLGNL KKETSDGEKE
   481  TIQKTSEDRA PAESRPFGTL PPRPPGQDTS MDDNPFGTRK VRSSFGRGFF KIKSNKRTAS
   541  APNLAETEKE TAEHLDLAGA SSRPKDSQRN SPFQIPPPSP DSKKKSRGIM KLFGKLRRSQ
   601  STTFNPDDMS EPEFKRGGTR ATAGPRLGWS RDLGQSNSDL DMPFAKWTKE QVCNWLMEQG
   661  LGSYLNSGKH WIASGQTLLQ ASQQDLEKEL GIKHSLHRKK LQLALQALGS EEETNHGKLD
   721  FNWVTRWLDD IGLPQYKTQF DEGRVDGRML HYMTVDDLLS LKVVSVLHHL SIKRAIQVLR
   781  INNFEPNCLR RRPSDENTIA PSEVQKWTNH RVMEWLRSVD LAEYAPNLRG SGVHGGLMVL
   841  EPRFNVETMA QLLNIPPNKT LLRRHLATHF NLLIGAEAQH QKRDAMELPD YVLLTATAKV
   901  KPKKLAFSNF GNLRKKKQED GEEYVCPMEL GQASGSASKK GFKPGLDMRL YEEDDLDRLE
   961  QMEDSEGTVR QIGAFSEGIN NLTHMLKEDD MFKDFAARSP SASITDEDSN V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPFIBP1 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): 0.52
Highest tissue expression: 72 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 72 nTPM
ovary: 70 nTPM
placenta: 57 nTPM
blood vessel: 47 nTPM
tongue: 41 nTPM
lung: 37 nTPM

Single-cell type

lymphatic endothelial cells: 1,721 nCPM
proximal tubule cells: 626 nCPM
cardiomyocytes: 561 nCPM
vascular endothelial cells: 509 nCPM
renal connecting tubule cells: 471 nCPM
ovarian stromal cells: 431 nCPM

Immune cell

naive B-cell: 2.7 nTPM
basophil: 0.9 nTPM
plasmacytoid DC: 0.9 nTPM
T-reg: 0.8 nTPM
MAIT T-cell: 0.6 nTPM
neutrophil: 0.6 nTPM

Brain region

cerebral cortex: 124 nTPM
thalamus: 123 nTPM
hippocampal formation: 115 nTPM
amygdala: 102 nTPM
white matter: 99 nTPM
choroid plexus: 93 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPFIBP1.

Disease | AllUniProt

Conditions PPFIBP1 is implicated in, by any mechanism.

Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) MIM:620024

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 204 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Microcephaly
Severe intellectual disability
Cerebral calcification
Seizure

Disease | ImmuneIEDB

Conditions an epitope on PPFIBP1 was assayed in.

skin melanoma T cell

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): 0.75
gnomAD pLI: 0
gnomAD missense Z: 0.75
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

cadherin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PPFIBP1 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 PPFIBP1 as an antibody target. Whether an autoantibody or antibody against PPFIBP1 could matter depends on whether native PPFIBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPFIBP1 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 PPFIBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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