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PLXNA1 plexin A1 [ Homo sapiens (human) ]

Gene ID: 5361, updated on 29-Mar-2023

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
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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_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_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126680398-126680946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126680947-126681493 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 Sharpr-MPRA regulatory region 421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126762997-126763640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126772262-126772762

Genomic regions, transcripts, and products

Expression

  • 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

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp761P19121

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 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

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_032242.4 → 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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)