PODXL podocalyxin like [Homo sapiens (human)] - Gene

Summary

Official Symbol: PODXLprovided by HGNC
Official Full Name: podocalyxin likeprovided by HGNC
Primary source: HGNC:HGNC:9171
See related: Ensembl:ENSG00000128567 MIM:602632; AllianceGenome:HGNC:9171
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PC; PDX; PCLP; Gp200; gp135; PCLP-1; PODXL1
Summary: 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]
Expression: Broad expression in kidney (RPKM 88.8), lung (RPKM 31.4) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (131500271..131556628, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (132817863..132874188, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (131185030..131241387, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Podocalyxin promotes the formation of compact and chemoresistant cancer spheroids in high grade serous carcinoma.
Title: Podocalyxin promotes the formation of compact and chemoresistant cancer spheroids in high grade serous carcinoma.
Podocalyxin molecular characteristics and endometrial expression: high conservation between humans and macaques but divergence in micedagger.
Title: Podocalyxin molecular characteristics and endometrial expression: high conservation between humans and macaques but divergence in mice†.
Podocalyxin promotes an impermeable epithelium and inhibits pro-implantation factors to negatively regulate endometrial receptivity.
Title: Podocalyxin promotes an impermeable epithelium and inhibits pro-implantation factors to negatively regulate endometrial receptivity.
Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.
Title: Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.
CTCF-induced upregulation of LINC01207 promotes gastric cancer progression via miR-1301-3p/PODXL axis.
Title: CTCF-induced upregulation of LINC01207 promotes gastric cancer progression via miR-1301-3p/PODXL axis.
Effect of fetal growth restriction on urinary podocalyxin levels at birth in preterm neonates.
Title: Effect of fetal growth restriction on urinary podocalyxin levels at birth in preterm neonates.
Podocalyxin inhibits human embryo implantation in vitro and luminal podocalyxin in putative receptive endometrium is associated with implantation failure in fertility treatment.
Title: Podocalyxin inhibits human embryo implantation in vitro and luminal podocalyxin in putative receptive endometrium is associated with implantation failure in fertility treatment.
Radiation-Induced Overexpression of TGFbeta and PODXL Contributes to Colorectal Cancer Cell Radioresistance through Enhanced Motility.
Title: Radiation-Induced Overexpression of TGFβ and PODXL Contributes to Colorectal Cancer Cell Radioresistance through Enhanced Motility.
Impact of histological response after neoadjuvant therapy on podocalyxin as a prognostic marker in pancreatic cancer.
Title: Impact of histological response after neoadjuvant therapy on podocalyxin as a prognostic marker in pancreatic cancer.
The transcriptome-wide association search for genes and genetic variants which associate with BMI and gestational weight gain in women with type 1 diabetes.
Title: The transcriptome-wide association search for genes and genetic variants which associate with BMI and gestational weight gain in women with type 1 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (93)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483621

STS-H65205 (e-PCR)
- UniSTS:23363

D7S1418 (e-PCR)
- UniSTS:82761

RH78732 (e-PCR)
- UniSTS:27248

RH45367 (e-PCR)
- UniSTS:75669

GDB:4584972 (e-PCR)
- UniSTS:4336

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial tube formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in podocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell-cell adhesion mediated by integrin	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell-cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of microvillus assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microvillus assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
is_active_in microvillus membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in microvillus membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
located_in slit diaphragm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: podocalyxin

Names: GCTM-2 antigen; podocalyxin-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042104.1 RefSeqGene

Range

4990..61347

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018111.3 → NP_001018121.1 podocalyxin isoform 1 precursor

See identical proteins and their annotated locations for NP_001018121.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC008264, AK055816, AK223573, BC042466, BP355358, CN290641

Consensus CDS

CCDS34755.1

UniProtKB/Swiss-Prot

A6NHX8, O00592, Q52LZ7, Q53ER6

UniProtKB/TrEMBL

B7ZKQ8

Related

ENSP00000367817.3, ENST00000378555.8

Conserved Domains (1) summary

pfam06365
Location:358 → 557

CD34_antigen; CD34/Podocalyxin family
NM_005397.4 → NP_005388.2 podocalyxin isoform 2 precursor

See identical proteins and their annotated locations for NP_005388.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame alternate exon compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AC008264, AK055816, AK223573, BC042466, BP355358

Consensus CDS

CCDS47714.1

UniProtKB/TrEMBL

Q96N83

Related

ENSP00000319782.9, ENST00000322985.9

Conserved Domains (2) summary

pfam06365
Location:326 → 525

CD34_antigen; CD34/Podocalyxin family

cl25496
Location:33 → 293

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)