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Aliases for PLXNA1 Gene

Aliases for PLXNA1 Gene

  • Plexin A1 2 3 5
  • Semaphorin Receptor NOV 3 4
  • PLXN1 3 4
  • NOV 3 4
  • PLEXIN-A1 3
  • Plexin-A1 3
  • Plexin 1 3
  • NOVP 3

External Ids for PLXNA1 Gene

Previous HGNC Symbols for PLXNA1 Gene

  • PLXN1

Previous GeneCards Identifiers for PLXNA1 Gene

  • GC03P123491
  • GC03P126738
  • GC03P127989
  • GC03P128028
  • GC03P128190
  • GC03P124086

Summaries for PLXNA1 Gene

GeneCards Summary for PLXNA1 Gene

PLXNA1 (Plexin A1) is a Protein Coding gene. Diseases associated with PLXNA1 include Hereditary Congenital Facial Paresis and Dubowitz Syndrome. Among its related pathways are Developmental Biology and Semaphorin interactions. Gene Ontology (GO) annotations related to this gene include semaphorin receptor activity. An important paralog of this gene is PLXNA3.

UniProtKB/Swiss-Prot for PLXNA1 Gene

  • Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity).

Gene Wiki entry for PLXNA1 Gene

Additional gene information for PLXNA1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLXNA1 Gene

Genomics for PLXNA1 Gene

GeneHancer (GH) Regulatory Elements for PLXNA1 Gene

Promoters and enhancers for PLXNA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J126981 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 670.7 +1.5 1536 4.3 HDGF ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF213 ZNF207 ZNF143 PLXNA1 TPRA1 PIR55562 GC03P126709
GH03J126998 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +19.5 19512 5.9 CTCF TEAD4 SIN3A EBF1 ETS1 POLR2A SCRT2 ZNF143 RCOR1 CHD2 PLXNA1 CHST13 PIR55562 GC03P126709
GH03J127035 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.4 +53.7 53730 2.4 KLF1 ZBTB21 NFIB MAX KLF17 ZIC2 ZFHX2 PATZ1 ZNF600 MAFK PIR55562 PLXNA1 GC03P126709
GH03J126959 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13 -21.2 -21161 2.5 SOX13 CTCF KLF1 MXI1 FOXA2 MAX SIN3A EBF1 ZIC2 RAD21 PLXNA1 CHST13 PIR43717 ENSG00000280053 CHCHD6 GC03P126709
GH03J127007 Enhancer 0.7 dbSUPER 18.5 +28.5 28522 6.7 BCOR NFIB ZMYM3 CEBPG ZIC2 ZNF335 ZFHX2 ZBTB48 PATZ1 ZBTB20 PLXNA1 PIR55562 GC03P126709
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLXNA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLXNA1 gene promoter:
  • Bach1
  • NRSF form 2
  • NRSF form 1
  • deltaCREB
  • CREB
  • ATF6
  • CUTL1
  • S8
  • XBP-1
  • HEN1

Genomic Locations for PLXNA1 Gene

Genomic Locations for PLXNA1 Gene
chr3:126,982,119-127,037,392
(GRCh38/hg38)
Size:
55,274 bases
Orientation:
Plus strand
chr3:126,707,437-126,756,235
(GRCh37/hg19)
Size:
48,799 bases
Orientation:
Plus strand

Genomic View for PLXNA1 Gene

Genes around PLXNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLXNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLXNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLXNA1 Gene

Proteins for PLXNA1 Gene

  • Protein details for PLXNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIW2-PLXA1_HUMAN
    Recommended name:
    Plexin-A1
    Protein Accession:
    Q9UIW2

    Protein attributes for PLXNA1 Gene

    Size:
    1896 amino acids
    Molecular mass:
    211067 Da
    Quaternary structure:
    • Interacts directly with NRP1 and NRP2. Interacts with FARP2, RND1 and KDR/VEGFR2. Binding of SEMA3A leads to dissociation of FARP2 (By similarity).

neXtProt entry for PLXNA1 Gene

Post-translational modifications for PLXNA1 Gene

  • Ubiquitination at isoforms=1418
  • Modification sites at PhosphoSitePlus

Other Protein References for PLXNA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLXNA1 Gene

Domains & Families for PLXNA1 Gene

Gene Families for PLXNA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for PLXNA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UIW2

UniProtKB/Swiss-Prot:

PLXA1_HUMAN :
  • Belongs to the plexin family.
Family:
  • Belongs to the plexin family.
genes like me logo Genes that share domains with PLXNA1: view

Function for PLXNA1 Gene

Molecular function for PLXNA1 Gene

UniProtKB/Swiss-Prot Function:
Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity).
GENATLAS Biochemistry:
plexin A1,calcium-dependent cell adhesion molecule at the neuronal cell surface,homologous to the hepatocyte growth factor receptor family,expressed in fetal brain,putatively involved in signal transduction

Phenotypes From GWAS Catalog for PLXNA1 Gene

Gene Ontology (GO) - Molecular Function for PLXNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0017154 semaphorin receptor activity TAS 10520995
GO:0038023 signaling receptor activity TAS 8570614
genes like me logo Genes that share ontologies with PLXNA1: view
genes like me logo Genes that share phenotypes with PLXNA1: view

Animal Models for PLXNA1 Gene

MGI Knock Outs for PLXNA1:

Animal Model Products

CRISPR Products

miRNA for PLXNA1 Gene

miRTarBase miRNAs that target PLXNA1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLXNA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLXNA1 Gene

Localization for PLXNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLXNA1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLXNA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLXNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002116 semaphorin receptor complex TAS 19909241
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PLXNA1: view

Pathways & Interactions for PLXNA1 Gene

genes like me logo Genes that share pathways with PLXNA1: view

Pathways by source for PLXNA1 Gene

1 GeneGo (Thomson Reuters) pathway for PLXNA1 Gene
1 Cell Signaling Technology pathway for PLXNA1 Gene

Gene Ontology (GO) - Biological Process for PLXNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007162 negative regulation of cell adhesion IBA --
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development TAS 8570614
GO:0008360 regulation of cell shape IBA --
GO:0014910 regulation of smooth muscle cell migration IEA --
genes like me logo Genes that share ontologies with PLXNA1: view

No data available for SIGNOR curated interactions for PLXNA1 Gene

Drugs & Compounds for PLXNA1 Gene

(1) Additional Compounds for PLXNA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLXNA1: view

Transcripts for PLXNA1 Gene

mRNA/cDNA for PLXNA1 Gene

Unigene Clusters for PLXNA1 Gene

Plexin A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLXNA1

Alternative Splicing Database (ASD) splice patterns (SP) for PLXNA1 Gene

No ASD Table

Relevant External Links for PLXNA1 Gene

GeneLoc Exon Structure for
PLXNA1
ECgene alternative splicing isoforms for
PLXNA1

Expression for PLXNA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLXNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLXNA1 Gene

This gene is overexpressed in Heart (29.1), Fetal Brain (17.4), and Frontal cortex (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLXNA1 Gene



Protein tissue co-expression partners for PLXNA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLXNA1 Gene:

PLXNA1

SOURCE GeneReport for Unigene cluster for PLXNA1 Gene:

Hs.432329

mRNA Expression by UniProt/SwissProt for PLXNA1 Gene:

Q9UIW2-PLXA1_HUMAN
Tissue specificity: Detected in fetal brain, lung, liver and kidney.

Evidence on tissue expression from TISSUES for PLXNA1 Gene

  • Nervous system(4.4)
  • Muscle(4.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with PLXNA1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLXNA1 Gene

Orthologs for PLXNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLXNA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLXNA1 34 33
  • 98.35 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 96 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PLXNA1 34 33
  • 90.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLXNA1 34 33
  • 89.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plxna1 16 34 33
  • 87.84 (n)
rat
(Rattus norvegicus)
Mammalia Plxna1 33
  • 87.73 (n)
oppossum
(Monodelphis domestica)
Mammalia PLXNA1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLXNA1 34 33
  • 80.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLXNA1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plxna1 33
  • 75.51 (n)
zebrafish
(Danio rerio)
Actinopterygii PLXNA1 (2 of 3) 34
  • 83 (a)
OneToMany
PLXNA1 (1 of 3) 34
  • 79 (a)
OneToMany
PLXNA1 (3 of 3) 34
  • 77 (a)
OneToMany
plxna1b 33
  • 74.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta plexA 35
  • 41 (a)
plexB 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea plx-1 35
  • 34 (a)
plx-2 35
  • 25 (a)
Species where no ortholog for PLXNA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLXNA1 Gene

ENSEMBL:
Gene Tree for PLXNA1 (if available)
TreeFam:
Gene Tree for PLXNA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLXNA1: view image

Paralogs for PLXNA1 Gene

Paralogs for PLXNA1 Gene

(11) SIMAP similar genes for PLXNA1 Gene using alignment to 2 proteins:

  • PLXA1_HUMAN
  • F8VSZ4_HUMAN
genes like me logo Genes that share paralogs with PLXNA1: view

Variants for PLXNA1 Gene

Sequence variations from dbSNP and Humsavar for PLXNA1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000019178 -- 126,994,972(+) G/T intron_variant
rs1000021615 -- 127,025,253(+) C/T intron_variant
rs1000088831 -- 126,996,822(+) G/A intron_variant
rs1000099156 -- 127,014,838(+) C/T intron_variant
rs1000120171 -- 126,996,991(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLXNA1 Gene

Variant ID Type Subtype PubMed ID
dgv8559n54 CNV loss 21841781
esv2725882 CNV deletion 23290073
esv3562513 CNV deletion 23714750
nsv1001475 CNV loss 25217958
nsv3987 CNV insertion 18451855
nsv460846 CNV loss 19166990
nsv521490 CNV loss 19592680
nsv591563 CNV loss 21841781
nsv829719 CNV gain 17160897
nsv955340 CNV deletion 24416366

Variation tolerance for PLXNA1 Gene

Residual Variation Intolerance Score: 0.211% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLXNA1 Gene

Human Gene Mutation Database (HGMD)
PLXNA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLXNA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLXNA1 Gene

Disorders for PLXNA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PLXNA1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hereditary congenital facial paresis
  • hcfp1
dubowitz syndrome
  • dubowitz's syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLXNA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLXNA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLXNA1 Gene

Publications for PLXNA1 Gene

  1. A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. (PMID: 8570614) Maestrini E … Comoglio PM (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 58
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  3. Expression and function of semaphorin 3A and its receptors in human monocyte-derived macrophages. (PMID: 19480842) Ji JD … Ivashkiv LB (Human immunology 2009) 3 22 58
  4. The plexin-A1 receptor activates vascular endothelial growth factor-receptor 2 and nuclear factor-kappaB to mediate survival and anchorage-independent growth of malignant mesothelioma cells. (PMID: 19176370) Catalano A … Procopio A (Cancer research 2009) 3 22 58
  5. [Expression of Plexin A1 in gastric carcinoma and its relationship with tumor angiogenesis and proliferation]. (PMID: 17520388) Zhao XY … Li YH (Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2007) 3 22 58

Products for PLXNA1 Gene

Sources for PLXNA1 Gene

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