PODXL

Protein identityUniProt · HPA

UniProt accession

O00592

Gene

PODXL

Ensembl

ENSG00000128567

Chromosome

7

Canonical length

558 aa

Protein class

Plasma proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoli,Endoplasmic reticulum,Vesicles,Plasma membrane,Centriolar satellite

OverviewNCBI Gene

This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>O00592|PODXL
     1  MRCALALSAL LLLLSTPPLL PSSPSPSPSP SQNATQTTTD SSNKTAPTPA SSVTIMATDT
    61  AQQSTVPTSK ANEILASVKA TTLGVSSDSP GTTTLAQQVS GPVNTTVARG GGSGNPTTTI
   121  ESPKSTKSAD TTTVATSTAT AKPNTTSSQN GAEDTTNSGG KSSHSVTTDL TSTKAEHLTT
   181  PHPTSPLSPR QPTSTHPVAT PTSSGHDHLM KISSSSSTVA IPGYTFTSPG MTTTLLETVF
   241  HHVSQAGLEL LTSGDLPTLA SQSAGITASS VISQRTQQTS SQMPASSTAP SSQETVQPTS
   301  PATALRTPTL PETMSSSPTA ASTTHRYPKT PSPTVAHESN WAKCEDLETQ TQSEKQLVLN
   361  LTGNTLCAGG ASDEKLISLI CRAVKATFNP AQDKCGIRLA SVPGSQTVVV KEITIHTKLP
   421  AKDVYERLKD KWDELKEAGV SDMKLGDQGP PEEAEDRFSM PLIITIVCMA SFLLLVAALY
   481  GCCHQRLSQR KDQQRLTEEL QTVENGYHDN PTLEVMETSS EMQEKKVVSL NGELGDSWIV
   541  PLDNLTKDDL DEEEDTHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PODXL 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

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

131 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PODXL.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 296 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive juvenile Parkinson disease 2
• PODXL-related disorder

ReferencesPubMed · IEDB

Publications for PODXL from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.69

gnomAD pLI

0

gnomAD missense Z

0.67

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell adhesion
• cell migration
• negative regulation of cell adhesion
• negative regulation of cell-cell adhesion
• podocyte development
• positive regulation of cell migration
• positive regulation of cell-cell adhesion mediated by integrin
• regulation of microvillus assembly
• epithelial tube formation

Cellular components

• apical plasma membrane
• centriolar satellite
• cytoplasm
• endoplasmic reticulum
• extracellular exosome
• extracellular space
• filopodium
• lamellipodium
• membrane raft
• microvillus membrane
• nucleolus
• plasma membrane
• ruffle
• slit diaphragm

Protein domainsUniProt · Pfam · InterPro

• CD34/Podocalyxin
• CD34/Podocalyxin family
• Podocalyxin

KeywordsUniProt

• Cell adhesion
• Cell membrane
• Cell projection
• Glycoprotein
• Membrane
• Phosphoprotein
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

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

• EZR
• NHERF2