• Gene id: 5361

Gene Summary

• Gene Symbol: PLXNA1   Gene   UCSC   Ensembl
• Aliases: NOV, NOVP, PLEXIN-A1, PLXN1
• Gene name: plexin A1
• Alternate names: plexin-A1, plexin 1, semaphorin receptor NOV,
• Gene location: 3q21.3 (126983258: 127037391)     Exons: 32     NC_000003.12
• OMIM: 601055

Protein Summary

• Protein general information: Q9UIW2  
  • Name: Plexin A1 (Semaphorin receptor NOV)
  • Length: 1896  
  • Mass: 211067
  • Tissue specificity: Detected in fetal brain, lung, liver and kidney. {ECO
• Sequence:

  MPLPPRSLQVLLLLLLLLLLLPGMWAEAGLPRAGGGSQPPFRTFSASDWGLTHLVVHEQTGEVYVGAVNRIYKLS
  GNLTLLRAHVTGPVEDNEKCYPPPSVQSCPHGLGSTDNVNKLLLLDYAANRLLACGSASQGICQFLRLDDLFKLG
  EPHHRKEHYLSSVQEAGSMAGVLIAGPPGQGQAKLFVGTPIDGKSEYFPTLSSRRLMANEEDADMFGFVYQDEFV
  SSQLKIPSDTLSKFPAFDIYYVYSFRSEQFVYYLTLQLDTQLTSPDAAGEHFFTSKIVRLCVDDPKFYSYVEFPI
  GCEQAGVEYRLVQDAYLSRPGRALAHQLGLAEDEDVLFTVFAQGQKNRVKPPKESALCLFTLRAIKEKIKERIQS
  CYRGEGKLSLPWLLNKELGCINSPLQIDDDFCGQDFNQPLGGTVTIEGTPLFVDKDDGLTAVAAYDYRGRTVVFA
  GTRSGRIRKILVDLSNPGGRPALAYESVVAQEGSPILRDLVLSPNHQYLYAMTEKQVTRVPVESCVQYTSCELCL
  GSRDPHCGWCVLHSICSRRDACERADEPQRFAADLLQCVQLTVQPRNVSVTMSQVPLVLQAWNVPDLSAGVNCSF
  EDFTESESVLEDGRIHCRSPSAREVAPITRGQGDQRVVKLYLKSKETGKKFASVDFVFYNCSVHQSCLSCVNGSF
  PCHWCKYRHVCTHNVADCAFLEGRVNVSEDCPQILPSTQIYVPVGVVKPITLAARNLPQPQSGQRGYECLFHIPG
  SPARVTALRFNSSSLQCQNSSYSYEGNDVSDLPVNLSVVWNGNFVIDNPQNIQAHLYKCPALRESCGLCLKADPR
  FECGWCVAERRCSLRHHCAADTPASWMHARHGSSRCTDPKILKLSPETGPRQGGTRLTITGENLGLRFEDVRLGV
  RVGKVLCSPVESEYISAEQIVCEIGDASSVRAHDALVEVCVRDCSPHYRALSPKRFTFVTPTFYRVSPSRGPLSG
  GTWIGIEGSHLNAGSDVAVSVGGRPCSFSWRNSREIRCLTPPGQSPGSAPIIININRAQLTNPEVKYNYTEDPTI
  LRIDPEWSINSGGTLLTVTGTNLATVREPRIRAKYGGIERENGCLVYNDTTMVCRAPSVANPVRSPPELGERPDE
  LGFVMDNVRSLLVLNSTSFLYYPDPVLEPLSPTGLLELKPSSPLILKGRNLLPPAPGNSRLNYTVLIGSTPCTLT
  VSETQLLCEAPNLTGQHKVTVRAGGFEFSPGTLQVYSDSLLTLPAIVGIGGGGGLLLLVIVAVLIAYKRKSRDAD
  RTLKRLQLQMDNLESRVALECKEAFAELQTDIHELTNDLDGAGIPFLDYRTYAMRVLFPGIEDHPVLKEMEVQAN
  VEKSLTLFGQLLTKKHFLLTFIRTLEAQRSFSMRDRGNVASLIMTALQGEMEYATGVLKQLLSDLIEKNLESKNH
  PKLLLRRTESVAEKMLTNWFTFLLYKFLKECAGEPLFMLYCAIKQQMEKGPIDAITGEARYSLSEDKLIRQQIDY
  KTLTLNCVNPENENAPEVPVKGLDCDTVTQAKEKLLDAAYKGVPYSQRPKAADMDLEWRQGRMARIILQDEDVTT
  KIDNDWKRLNTLAHYQVTDGSSVALVPKQTSAYNISNSSTFTKSLSRYESMLRTASSPDSLRSRTPMITPDLESG
  TKLWHLVKNHDHLDQREGDRGSKMVSEIYLTRLLATKGTLQKFVDDLFETIFSTAHRGSALPLAIKYMFDFLDEQ
  ADKHQIHDADVRHTWKSNCLPLRFWVNVIKNPQFVFDIHKNSITDACLSVVAQTFMDSCSTSEHKLGKDSPSNKL
  LYAKDIPNYKSWVERYYADIAKMPAISDQDMSAYLAEQSRLHLSQFNSMSALHEIYSYITKYKDEILAALEKDEQ
  ARRQRLRSKLEQVVDTMALSS

• Structural information:
  • Protein Domains: (27..51-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352-)
    (864..95-)
    (/note="IPT/TIG-1)
    (961..104-)
    (/note="IPT/TIG-2)
    (1048..114-)
    (/note="IPT/TIG-3)
    (1150..123-)
    (/note="IPT/TIG-4")
  • Interpro: IPR013783  IPR014756  IPR002909  IPR031148  IPR042744   IPR013548  IPR002165  IPR016201  IPR008936  IPR001627  IPR036352  IPR041019  IPR041362  IPR015943  
  • Prosite: PS51004
  • CDD: cd11271
  • STRING: ENSP00000377061
• Other Databases: GeneCards:  PLXNA1  Malacards:  PLXNA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002116	semaphorin receptor complex	IBA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007162	negative regulation of cell adhesion	IBA	biological process
GO:0017154	semaphorin receptor activity	IBA	molecular function
GO:0043087	regulation of GTPase activity	IBA	biological process
GO:1902287	semaphorin-plexin signaling pathway involved in axon guidance	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0030334	regulation of cell migration	IBA	biological process
GO:0050772	positive regulation of axonogenesis	IBA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0017154	semaphorin receptor activity	IEA	molecular function
GO:0071526	semaphorin-plexin signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0060666	dichotomous subdivision of terminal units involved in salivary gland branching	IEA	biological process
GO:0014910	regulation of smooth muscle cell migration	IEA	biological process
GO:1990138	neuron projection extension	IEA	biological process
GO:0097485	neuron projection guidance	IEA	biological process
GO:0017154	semaphorin receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0002116	semaphorin receptor complex	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0017154	semaphorin receptor activity	TAS	molecular function
GO:0007275	multicellular organism development	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq