MPZL1 myelin protein zero like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPZL1provided by HGNC
Official Full Name: myelin protein zero like 1provided by HGNC
Primary source: HGNC:HGNC:7226
See related: Ensembl:ENSG00000197965 MIM:604376; AllianceGenome:HGNC:7226
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PZR; PZRa; PZRb; PZR1b; MPZL1b
Summary: Predicted to enable structural molecule activity. Predicted to be involved in cell-cell signaling and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within positive regulation of cell migration. Located in cell surface and focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in gall bladder (RPKM 26.1), placenta (RPKM 23.6) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1q24.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (167721982..167791919)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (167064939..167143403)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (167691219..167761156)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MPZL1 Promotes Lung Adenocarcinoma Progression by Enhancing Tumor Proliferation, Invasion, Migration, and Suppressing Immune Function via Transforming Growth Factor-beta1.
Title: MPZL1 Promotes Lung Adenocarcinoma Progression by Enhancing Tumor Proliferation, Invasion, Migration, and Suppressing Immune Function via Transforming Growth Factor-β1.
MPZL1 upregulation promotes tumor metastasis and correlates with unfavorable prognosis in non-small cell lung cancer.
Title: MPZL1 upregulation promotes tumor metastasis and correlates with unfavorable prognosis in non-small cell lung cancer.
LncRNA TNFRSF10A-AS1 promotes gastric cancer by directly binding to oncogenic MPZL1 and is associated with patient outcome.
Title: LncRNA TNFRSF10A-AS1 promotes gastric cancer by directly binding to oncogenic MPZL1 and is associated with patient outcome.
High MPZL1 expression is associated with proliferation and metastasis of ovarian cancer.
Title: MPZL1 promotes tumor cell proliferation and migration via activation of Src kinase in ovarian cancer.
The present study showed that the expression and protein levels of MPZL1 were significantly higher in gallbladder carcinoma tissues, especially in patients diagnosed with advanced tumor stages.
Title: MPZL1 is highly expressed in advanced gallbladder carcinoma and promotes the aggressive behavior of human gallbladder carcinoma GBC‑SD cells.
Data indicate that myelin protein zero-like 1 (PZR) may promote the invasion and migration of colorectal cancer (CRC) cells through increasing the phosphorylation of focal adhesion kinase (FAK) and protooncogene SRC (Src).
Title: PZR promotes metastasis of colorectal cancer through increasing FAK and Src phosphorylation.
These data demonstrate that the formation of this MPZL1-PTPN11-GRB2 complex is triggered by the attachment of HER2+ breast cancer cells to fibronectin.
Title: MPZL1 forms a signalling complex with GRB2 adaptor and PTPN11 phosphatase in HER2-positive breast cancer cells.
dimerization of MPZL1 participates in control of its signal transmission in cell adhesion.
Title: Structural and biochemical studies of the extracellular domain of Myelin protein zero-like protein 1.
MPZL1 is a target gene within the 1q24.1-24.2 amplicon that plays a pivotal role in HCC cell migration and tumor metastasis, and a novel MPZL1/Src/cortactin signaling cascade.
Title: Amplification of MPZL1/PZR promotes tumor cell migration through Src-mediated phosphorylation of cortactin in hepatocellular carcinoma.
Clinico-electrophysiological features and MRI findings are described in leg musculature from three patients belonging to a CMT2J pedigree due to MPZ Thr124Met mutation.
Title: Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

Go to the top of the page Help

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
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of MPZL1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-79577 (e-PCR)
- UniSTS:103696

A007A43 (e-PCR)
- UniSTS:35948

D1S1795E (e-PCR)
- UniSTS:47740

MPZL1__7200 (e-PCR)
- UniSTS:466339

D1S2750 (e-PCR), detects polymorphism
- UniSTS:27307

SHGC-75878 (e-PCR)
- UniSTS:7599

D1S1803E (e-PCR)
- UniSTS:150719

WI-12092 (e-PCR)
- UniSTS:34243

RH12295 (e-PCR)
- UniSTS:58576

FLJ21047_2474 (e-PCR)
- UniSTS:463588

RH36145 (e-PCR)
- UniSTS:64757

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: myelin protein zero-like protein 1

Names: immunoglobulin family transmembrane protein; protein zero related

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001146191.2 → NP_001139663.1 myelin protein zero-like protein 1 isoform c precursor

See identical proteins and their annotated locations for NP_001139663.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks three alternate exons in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AK297112, AW292498, Z99943

Consensus CDS

CCDS53425.1

UniProtKB/Swiss-Prot

O95297

Related

ENSP00000375968.3, ENST00000392121.7

Conserved Domains (1) summary

cl11960
Location:39 → 86

Ig; Immunoglobulin domain
NM_003953.6 → NP_003944.1 myelin protein zero-like protein 1 isoform a precursor

See identical proteins and their annotated locations for NP_003944.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AW292498, AY359019, DA725074, Z99943

Consensus CDS

CCDS1264.1

UniProtKB/Swiss-Prot

B2REB9, B2REC0, O95297, Q5R332, Q8IX11, Q9BWZ3, Q9NYK4, Q9UL20

UniProtKB/TrEMBL

A0A024R8Y6, A8K5D4, Q5U0H8

Related

ENSP00000352513.2, ENST00000359523.7

Conserved Domains (2) summary

cd05715
Location:39 → 154

Ig_P0-like; Immunoglobulin (Ig)-like domain of Protein zero (P0) and similar proteins

smart00410
Location:43 → 154

IG_like; Immunoglobulin like
NM_024569.5 → NP_078845.3 myelin protein zero-like protein 1 isoform b precursor

See identical proteins and their annotated locations for NP_078845.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AF478447, AW292498, DA725074, Z99943

Consensus CDS

CCDS44273.1

UniProtKB/TrEMBL

Q9UEL6

Related

ENSP00000420455.1, ENST00000474859.5

Conserved Domains (2) summary

cd05715
Location:39 → 154

Ig_P0-like; Immunoglobulin (Ig)-like domain of Protein zero (P0) and similar proteins

smart00410
Location:43 → 154

IG_like; Immunoglobulin like