PLXNA1 plexin A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLXNA1provided by HGNC
Official Full Name: plexin A1provided by HGNC
Primary source: HGNC:HGNC:9099
See related: Ensembl:ENSG00000114554 MIM:601055; AllianceGenome:HGNC:9099
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: NOV; NOVP; PLXN1; DWOPNED; PLEXIN-A1
Summary: Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including generation of neurons; regulation of GTPase activity; and regulation of cell shape. Predicted to act upstream of or within dichotomous subdivision of terminal units involved in salivary gland branching; neuron projection morphogenesis; and regulation of smooth muscle cell migration. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung (RPKM 7.9), testis (RPKM 6.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (126983115..127037389)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (129715295..129769569)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (126701958..126756232)

Chromosome 3 - NC_000003.12 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
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?

Rare variant screening and burden analysis of PLXNA1 in Parkinson's disease.
Title: Rare variant screening and burden analysis of PLXNA1 in Parkinson's disease.
Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.
Title: Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Title: Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Our findings indicate that PLXNA1 variants cause not only anosmic but also normosmic IHH with a relatively high prevalence (3.9%). Heterozygous missense PLXNA1 variants appear to be involved together with other IHH gene variants in bringing about the IHH disease phenotype.
Title: Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.
These findings demonstrate that cancer cell proliferation, migration, invasion, and tumour metastasis of ESCC can be suppressed by overexpression of miR-134 through downregulating PLXNA1, which subsequently blocks the MAPK signalling pathway.
Title: MicroRNA-134 prevents the progression of esophageal squamous cell carcinoma via the PLXNA1-mediated MAPK signalling pathway.
Data suggest that Fyn tyrosine kinase (Fyn)-dependent phosphorylation at two critical tyrosines is a key feature of vertebrate plexin A1 (PlxnA1) and plexin A2 (PlxnA2) signal transduction.
Title: Fyn-dependent phosphorylation of PlexinA1 and PlexinA2 at conserved tyrosines is essential for zebrafish eye development.
PLEXA1 has a developmental and tumor-associated pro-angiogenic role in brain neoplasms
Title: Inhibition of PlexA1-mediated brain tumor growth and tumor-associated angiogenesis using a transmembrane domain targeting peptide.
We thus screened 250 patients for the presence of mutations in PLXNA1, and identified different nonsynonymous mutations (p.V349L, p.V437L, p.R528W, p.H684Y, p.G720E, p.R740H, p.R813H, p.R840Q, p.A854T, p.R897H, p.L1464V, p.K1618T, p.C1744F), all at heterozygous state, in 15 patients.
Title: Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
Semaphorin-3a, neuropilin-1 and plexin-A1 are axonal guidance molecules that have been recently implicated in regulating bone metabolism.
Title: Semaphorin-3a, neuropilin-1 and plexin-A1 in prosthetic-particle induced bone loss.
a novel mutation in the PLXNA1 receptor (c.2587G>A) in newly established pancreatic cell line, is reported.
Title: Whole Genome Sequencing of Newly Established Pancreatic Cancer Lines Identifies Novel Somatic Mutation (c.2587G>A) in Axon Guidance Receptor Plexin A1 as Enhancer of Proliferation and Invasion.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

Associated conditions

Description	Tests
Dworschak-Punetha neurodevelopmental syndrome MedGen: C5677017 OMIM: 619955 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. 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

RH41820 (e-PCR)
- UniSTS:49434

G16008 (e-PCR)
- UniSTS:26404

STS-H29287 (e-PCR)
- UniSTS:47425

RH47496 (e-PCR)
- UniSTS:35419

D3S2849E (e-PCR)
- UniSTS:26986

RH12525 (e-PCR)
- UniSTS:56946

PLXNA1_8549 (e-PCR)
- UniSTS:467837

RH80703 (e-PCR)
- UniSTS:90508

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables semaphorin receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables semaphorin receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in dichotomous subdivision of terminal units involved in salivary gland branching	IEA Inferred from Electronic Annotation more info
involved_in gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neuron projection extension	IEA Inferred from Electronic Annotation more info
involved_in olfactory nerve formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axonogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway involved in axon guidance	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of semaphorin receptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of semaphorin receptor complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: plexin-A1

Names: plexin 1; semaphorin receptor NOV

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.

mRNA and Protein(s)

NM_032242.4 → NP_115618.3 plexin-A1 precursor

See identical proteins and their annotated locations for NP_115618.3

Status: VALIDATED

Source sequence(s)

AC011199

Consensus CDS

CCDS33847.2

UniProtKB/Swiss-Prot

Q9UIW2

Related

ENSP00000377061.2, ENST00000393409.3

Conserved Domains (7) summary

cd11271
Location:38 → 513

Sema_plexin_A1; The Sema domain, a protein interacting module, of Plexin A1

cd01179
Location:961 → 1046

IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...

cd01180
Location:864 → 960

IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...

cd01181
Location:1048 → 1148

IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...

pfam01437
Location:514 → 556

PSI; Plexin repeat

pfam01833
Location:1150 → 1234

TIG; IPT/TIG domain

pfam08337
Location:1318 → 1866

Plexin_cytopl; Plexin cytoplasmic RasGAP domain