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PLXNA1 plexin A1 [ Homo sapiens (human) ]

Gene ID: 5361, updated on 4-Jan-2025

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, Jan 2025]
Expression
Ubiquitous expression in lung (RPKM 7.9), testis (RPKM 6.7) and 24 other tissues See more
Orthologs
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Genomic context

See PLXNA1 in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126397718-126398324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126423783-126424334 Neighboring gene SF3A2 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126465189-126465888 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126469383-126470020 Neighboring gene Sharpr-MPRA regulatory regions 1012 and 11425 Neighboring gene regulator of chromosome condensation 2 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:126549126-126549983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:126549984-126550840 Neighboring gene Sharpr-MPRA regulatory region 387 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126570363-126570924 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126627623-126627935 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:126629966-126631165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126678753-126679300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126680398-126680946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126680947-126681493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126713795-126714428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126716329-126716962 Neighboring gene Sharpr-MPRA regulatory region 11201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126719495-126720128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20449 Neighboring gene Sharpr-MPRA regulatory region 421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126762997-126763640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126772262-126772762 Neighboring gene MPRA-validated peak4817 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126783715-126784214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126789374-126789874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126789875-126790375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126807727-126808352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126807100-126807726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126811845-126812457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126815371-126816008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126826424-126826924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126857595-126858095 Neighboring gene MPRA-validated peak4818 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126903541-126904408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126915318-126916262 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126926904-126927070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20453 Neighboring gene PRR23 family member E Neighboring gene PRR23 family member E2, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • DKFZp761P19121

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol  
located_in extracellular exosome PubMed 
located_in glutamatergic synapse  
located_in nucleoplasm  
is_active_in plasma membrane  
located_in plasma membrane  
part_of semaphorin receptor complex  
part_of semaphorin receptor complex  
part_of semaphorin receptor complex PubMed 

General protein information

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)

  1. NM_032242.4NP_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:38513
    Sema_plexin_A1; The Sema domain, a protein interacting module, of Plexin A1
    cd01179
    Location:9611046
    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:864960
    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:10481148
    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:514556
    PSI; Plexin repeat
    pfam01833
    Location:11501234
    TIG; IPT/TIG domain
    pfam08337
    Location:13181866
    Plexin_cytopl; Plexin cytoplasmic RasGAP domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    126983115..127037389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    129715295..129769569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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