• Gene id: 5364

Gene Summary

• Gene Symbol: PLXNB1   Gene   UCSC   Ensembl
• Aliases: PLEXIN-B1, PLXN5, SEP
• Gene name: plexin B1
• Alternate names: plexin-B1, plexin 5, semaphorin receptor SEP,
• Gene location: 3p21.31 (48430323: 48403853)     Exons: 44     NC_000003.12
• OMIM: 606758

Protein Summary

• Protein general information: O43157  
  • Name: Plexin B1 (Semaphorin receptor SEP)
  • Length: 2135  
  • Mass: 232298
  • Tissue specificity: Highly expressed in fetal kidney, and at slightly lower levels in fetal brain, lung and liver. {ECO
• Sequence:

  MPALGPALLQALWAGWVLTLQPLPPTAFTPNGTYLQHLARDPTSGTLYLGATNFLFQLSPGLQLEATVSTGPVLD
  SRDCLPPVMPDECPQAQPTNNPNQLLLVSPGALVVCGSVHQGVCEQRRLGQLEQLLLRPERPGDTQYVAANDPAV
  STVGLVAQGLAGEPLLFVGRGYTSRGVGGGIPPITTRALWPPDPQAAFSYEETAKLAVGRLSEYSHHFVSAFARG
  ASAYFLFLRRDLQAQSRAFRAYVSRVCLRDQHYYSYVELPLACEGGRYGLIQAAAVATSREVAHGEVLFAAFSSA
  APPTVGRPPSAAAGASGASALCAFPLDEVDRLANRTRDACYTREGRAEDGTEVAYIEYDVNSDCAQLPVDTLDAY
  PCGSDHTPSPMASRVPLEATPILEWPGIQLTAVAVTMEDGHTIAFLGDSQGQLHRVYLGPGSDGHPYSTQSIQQG
  SAVSRDLTFDGTFEHLYVMTQSTLLKVPVASCAQHLDCASCLAHRDPYCGWCVLLGRCSRRSECSRGQGPEQWLW
  SFQPELGCLQVAAMSPANISREETREVFLSVPDLPPLWPGESYSCHFGEHQSPALLTGSGVMCPSPDPSEAPVLP
  RGADYVSVSVELRFGAVVIAKTSLSFYDCVAVTELRPSAQCQACVSSRWGCNWCVWQHLCTHKASCDAGPMVASH
  QSPLVSPDPPARGGPSPSPPTAPKALATPAPDTLPVEPGAPSTATASDISPGASPSLLSPWGPWAGSGSISSPGS
  TGSPLHEEPSPPSPQNGPGTAVPAPTDFRPSATPEDLLASPLSPSEVAAVPPADPGPEALHPTVPLDLPPATVPA
  TTFPGAMGSVKPALDWLTREGGELPEADEWTGGDAPAFSTSTLLSGDGDSAELEGPPAPLILPSSLDYQYDTPGL
  WELEEATLGASSCPCVESVQGSTLMPVHVEREIRLLGRNLHLFQDGPGDNECVMELEGLEVVVEARVECEPPPDT
  QCHVTCQQHQLSYEALQPELRVGLFLRRAGRLRVDSAEGLHVVLYDCSVGHGDCSRCQTAMPQYGCVWCEGERPR
  CVTREACGEAEAVATQCPAPLIHSVEPLTGPVDGGTRVTIRGSNLGQHVQDVLGMVTVAGVPCAVDAQEYEVSSS
  LVCITGASGEEVAGATAVEVPGRGRGVSEHDFAYQDPKVHSIFPARGPRAGGTRLTLNGSKLLTGRLEDIRVVVG
  DQPCHLLPEQQSEQLRCETSPRPTPATLPVAVWFGATERRLQRGQFKYTLDPNITSAGPTKSFLSGGREICVRGQ
  NLDVVQTPRIRVTVVSRMLQPSQGLGRRRRVVPETACSLGPSCSSQQFEEPCHVNSSQLITCRTPALPGLPEDPW
  VRVEFILDNLVFDFATLNPTPFSYEADPTLQPLNPEDPTMPFRHKPGSVFSVEGENLDLAMSKEEVVAMIGDGPC
  VVKTLTRHHLYCEPPVEQPLPRHHALREAPDSLPEFTVQMGNLRFSLGHVQYDGESPGAFPVAAQVGLGVGTSLL
  ALGVIIIVLMYRRKSKQALRDYKKVQIQLENLESSVRDRCKKEFTDLMTEMTDLTSDLLGSGIPFLDYKVYAERI
  FFPGHRESPLHRDLGVPESRRPTVEQGLGQLSNLLNSKLFLTKFIHTLESQRTFSARDRAYVASLLTVALHGKLE
  YFTDILRTLLSDLVAQYVAKNPKLMLRRTETVVEKLLTNWMSICLYTFVRDSVGEPLYMLFRGIKHQVDKGPVDS
  VTGKAKYTLNDNRLLREDVEYRPLTLNALLAVGPGAGEAQGVPVKVLDCDTISQAKEKMLDQLYKGVPLTQRPDP
  RTLDVEWRSGVAGHLILSDEDVTSEVQGLWRRLNTLQHYKVPDGATVALVPCLTKHVLRENQDYVPGERTPMLED
  VDEGGIRPWHLVKPSDEPEPPRPRRGSLRGGERERAKAIPEIYLTRLLSMKGTLQKFVDDLFQVILSTSRPVPLA
  VKYFFDLLDEQAQQHGISDQDTIHIWKTNSLPLRFWINIIKNPQFVFDVQTSDNMDAVLLVIAQTFMDACTLADH
  KLGRDSPINKLLYARDIPRYKRMVERYYADIRQTVPASDQEMNSVLAELSWNYSGDLGARVALHELYKYINKYYD
  QIITALEEDGTAQKMQLGYRLQQIAAAVENKVTDL

• Structural information:
  • Protein Domains: (20..47-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352-)
    (1070..116-)
    (/note="IPT/TIG-1)
    (1162..124-)
    (/note="IPT/TIG-2)
    (1252..137-)
    (/note="IPT/TIG-3")
  • Interpro: IPR013783  IPR014756  IPR002909  IPR031148  IPR013548   IPR002165  IPR016201  IPR008936  IPR001627  IPR036352  IPR041019  IPR041362  IPR015943  
  • Prosite: PS51004
  • PDB: 2JPH 2OS6 2R2O 2REX 3HM6 3OL2 3SU8 3SUA 5B4W
  • PDBsum: 2JPH 2OS6 2R2O 2REX 3HM6 3OL2 3SU8 3SUA 5B4W
  • DIP: 36742
  • STRING: ENSP00000351338
• Other Databases: GeneCards:  PLXNB1  Malacards:  PLXNB1

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:0051493	regulation of cytoskeleton organization	IDA	biological process
GO:0008360	regulation of cell shape	IDA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IDA	biological process
GO:0017154	semaphorin receptor activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0002116	semaphorin receptor complex	IDA	cellular component
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:1904862	inhibitory synapse assembly	ISS	biological process
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function
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:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:1904862	inhibitory synapse assembly	IEA	biological process
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0033689	negative regulation of osteoblast proliferation	IEA	biological process
GO:1900220	semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis	IEA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0043931	ossification involved in bone maturation	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0017154	semaphorin receptor activity	IEA	molecular function
GO:0032794	GTPase activating protein binding	ISS	molecular function
GO:0033689	negative regulation of osteoblast proliferation	ISS	biological process
GO:0002116	semaphorin receptor complex	TAS	cellular component
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:0043931	ossification involved in bone maturation	ISS	biological process
GO:1900220	semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0071526	semaphorin-plexin signaling pathway	IDA	biological process
GO:0007162	negative regulation of cell adhesion	IDA	biological process
GO:0017154	semaphorin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0030215	semaphorin receptor binding	TAS	molecular function
GO:0016477	cell migration	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq