Gene Gene information from NCBI Gene database.
Entrez ID 5361
Gene name Plexin A1
Gene symbol PLXNA1
Synonyms (NCBI Gene)
DWOPNEDNOVNOVPPLEXIN-A1PLXN1
Chromosome 3
Chromosome location 3q21.3
miRNA miRNA information provided by mirtarbase database.
597
miRTarBase ID miRNA Experiments Reference
MIRT018527 hsa-miR-335-5p Microarray 18185580
MIRT050900 hsa-miR-17-5p CLASH 23622248
MIRT050583 hsa-miR-20a-5p CLASH 23622248
MIRT045283 hsa-miR-186-5p CLASH 23622248
MIRT041934 hsa-miR-484 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CIITA Unknown 15814328
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0002116 Component Semaphorin receptor complex IBA
GO:0002116 Component Semaphorin receptor complex IEA
GO:0002116 Component Semaphorin receptor complex ISS
GO:0002116 Component Semaphorin receptor complex TAS 19909241
GO:0002291 Process T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601055 9099 ENSG00000114554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIW2
Protein name Plexin-A1 (Semaphorin receptor NOV)
Protein 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 comp
PDB 7Y4P , 7Y4Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 53 493 Sema domain Family
PF01437 PSI 514 564 Plexin repeat Family
PF17960 TIG_plexin 569 659 TIG domain Domain
PF18020 TIG_2 713 807 TIG domain found in plexin Domain
PF01437 PSI 808 862 Plexin repeat Family
PF01833 TIG 864 958 IPT/TIG domain Domain
PF01833 TIG 961 1044 IPT/TIG domain Domain
PF01833 TIG 1048 1146 IPT/TIG domain Domain
PF01833 TIG 1150 1237 IPT/TIG domain Domain
PF08337 Plexin_cytopl 1318 1866 Plexin cytoplasmic RasGAP domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in fetal brain, lung, liver and kidney. {ECO:0000269|PubMed:8570614}.
Sequence
MPLPPRSLQVLLLLLLLLLLLPGMWAEAGLPRAGGGSQPPFRTFSASDWGLTHLVVHEQT
GEVYVGAVNRIYKLSGNLTLLRAHVTGPVEDNEKCYPPPSVQSCPHGLGSTDNVNKLLLL
DYAANRLLACGSASQGICQFLRLDDLFKLGEPHHRKEHYLSSVQEAGSMAGVLIAGPPGQ
GQAKLFVGTPIDGKSEYFPTLSSRRLMANEEDADMFGFVYQDEFVSSQLKIPSDTLSKFP
AFDIYYVYSFRSEQFVYYLTLQLDTQLTSPDAAGEHFFTSKIVRLCVDDPKFYSYVEFPI
GCEQAGVEYRLVQDAYLSRPGRALAHQLGLAEDEDVLFTVFAQGQKNRVKPPKESALCLF
TLRAIKEKIKERIQSCYRGEGKLSLPWLLNKELGCINSPLQIDDDFCGQDFNQPLGGTVT
IEGTPLFVDKDDGLTAVAAYDYRGRTVVFAGTRSGRIRKILVDLSNPGGRPALAYESVVA
QEGSPILRDLVLS
PNHQYLYAMTEKQVTRVPVESCVQYTSCELCLGSRDPHCGWCVLHSI
CSRRDACERADEPQRFAADLLQCV
QLTVQPRNVSVTMSQVPLVLQAWNVPDLSAGVNCSF
EDFTESESVLEDGRIHCRSPSAREVAPITRGQGDQRVVKLYLKSKETGKKFASVDFVFY
N
CSVHQSCLSCVNGSFPCHWCKYRHVCTHNVADCAFLEGRVNVSEDCPQILPSTQIYVPVG
VVKPITLAARNLPQPQSGQRGYECLFHIPGSPARVTALRFNSSSLQCQNSSYSYEGNDVS
DLPVNLSVVWNGNFVIDNPQNIQAHLY
KCPALRESCGLCLKADPRFECGWCVAERRCSLR
HHCAADTPASWMHARHGSSRCT
DPKILKLSPETGPRQGGTRLTITGENLGLRFEDVRLGV
RVGKVLCSPVESEYISAEQIVCEIGDASSVRAHDALVEVCVRDCSPHYRALSPKRFTF
VT
PTFYRVSPSRGPLSGGTWIGIEGSHLNAGSDVAVSVGGRPCSFSWRNSREIRCLTPPGQS
PGSAPIIININRAQLTNPEVKYNY
TEDPTILRIDPEWSINSGGTLLTVTGTNLATVREPR
IRAKYGGIERENGCLVYNDTTMVCRAPSVANPVRSPPELGERPDELGFVMDNVRSLLVLN
STSFLY
YPDPVLEPLSPTGLLELKPSSPLILKGRNLLPPAPGNSRLNYTVLIGSTPCTLT
VSETQLLCEAPNLTGQHKVTVRAGGFEFSPGTLQVYS
DSLLTLPAIVGIGGGGGLLLLVI
VAVLIAYKRKSRDADRTLKRLQLQMDNLESRVALECKEAFAELQTDIHELTNDLDGAGIP
FLDYRTYAMRVLFPGIEDHPVLKEMEVQANVEKSLTLFGQLLTKKHFLLTFIRTLEAQRS
FSMRDRGNVASLIMTALQGEMEYATGVLKQLLSDLIEKNLESKNHPKLLLRRTESVAEKM
LTNWFTFLLYKFLKECAGEPLFMLYCAIKQQMEKGPIDAITGEARYSLSEDKLIRQQIDY
KTLTLNCVNPENENAPEVPVKGLDCDTVTQAKEKLLDAAYKGVPYSQRPKAADMDLEWRQ
GRMARIILQDEDVTTKIDNDWKRLNTLAHYQVTDGSSVALVPKQTSAYNISNSSTFTKSL
SRYESMLRTASSPDSLRSRTPMITPDLESGTKLWHLVKNHDHLDQREGDRGSKMVSEIYL
TRLLATKGTLQKFVDDLFETIFSTAHRGSALPLAIKYMFDFLDEQADKHQIHDADVRHTW
KSNCLPLRFWVNVIKNPQFVFDIHKNSITDACLSVVAQTFMDSCSTSEHKLGKDSPSNKL
LYAKDIPNYKSWVERYYADIAKMPAISDQDMSAYLAEQSRLHLSQFNSMSALHEIYSYIT
KYKDEI
LAALEKDEQARRQRLRSKLEQVVDTMALSS
Sequence length 1896
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Sema3A PAK dependent Axon repulsion
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
CRMPs in Sema3A signaling
Other semaphorin interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dworschak-Punetha neurodevelopmental syndrome Likely pathogenic; Pathogenic rs2107620082, rs2472529689, rs1204647586, rs2079056783, rs2079109807 RCV002265997
RCV003991685
RCV002265938
RCV002265937
RCV002265939
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs2107620082, rs1204647586, rs2079056783, rs2079109807, rs2079215968 RCV001420505
RCV001172463
RCV001172462
RCV001172464
RCV001172468
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with variable cerebral and eye anomalies Likely pathogenic rs2472529640 RCV003228601
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLXNA1-related disorder Likely pathogenic; Pathogenic rs1204647586 RCV004743286
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 11477145
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 11477145
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35835748 Stimulate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11477145
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 24719190
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18984771, 30813947
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32734521 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36032071 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 24719190
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 11641787, 11779836
★☆☆☆☆
Found in Text Mining only