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 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; nervous system development; and positive regulation of axonogenesis. Predicted to act upstream of or within dichotomous subdivision of terminal units involved in salivary gland branching; neuron projection extension; and regulation of smooth muscle cell migration. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (126983115..127037389)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (129715295..129769569)
RS_2024_09	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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PLXNA1 confers enzalutamide resistance in prostate cancer via AKT signaling pathway.
Title: PLXNA1 confers enzalutamide resistance in prostate cancer via AKT signaling pathway.
PlexinA1 promotes gastric cancer migration through preventing MICAL1 protein ubiquitin/proteasome-mediated degradation in a Rac1-dependent manner.
Title: PlexinA1 promotes gastric cancer migration through preventing MICAL1 protein ubiquitin/proteasome-mediated degradation in a Rac1-dependent manner.
Chronic stress promotes gastric cancer progression via the adrenoceptor beta 2/PlexinA1 pathway.
Title: Chronic stress promotes gastric cancer progression via the adrenoceptor beta 2/PlexinA1 pathway.
[PLXNA1 is highly expressed in hepatocellular carcinoma and affects patients' survival and immune microenvironment].
Title: [PLXNA1 is highly expressed in hepatocellular carcinoma and affects patients' survival and immune microenvironment].
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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
enables semaphorin receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	ISS Inferred from Sequence or Structural Similarity more info
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 neuron projection extension	IEA Inferred from Electronic Annotation more info
involved_in neuron projection guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in olfactory nerve formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in semaphorin-plexin signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in synapse assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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
part_of semaphorin receptor complex	ISS Inferred from Sequence or Structural Similarity more info
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