• Gene id: 23129

Gene Summary

• Gene Symbol: PLXND1   Gene   UCSC   Ensembl
• Aliases: PLEXD1
• Gene name: plexin D1
• Alternate names: plexin-D1,
• Gene location: 3q22.1 (129606675: 129555213)     Exons: 37     NC_000003.12
• OMIM: 616225

Protein Summary

• Protein general information: Q9Y4D7  
  • Name: Plexin D1
  • Length: 1925  
  • Mass: 212007
  • Tissue specificity: Detected at low levels in heart, placenta, lung, skeletal muscle, kidney, thymus and liver. Detected at very low levels in brain, colon, spleen, small intestine and peripheral blood leukocytes. {ECO
• Sequence:

  MAPRAAGGAPLSARAAAASPPPFQTPPRCPVPLLLLLLLGAARAGALEIQRRFPSPTPTNNFALDGAAGTVYLAA
  VNRLYQLSGANLSLEAEAAVGPVPDSPLCHAPQLPQASCEHPRRLTDNYNKILQLDPGQGLVVVCGSIYQGFCQL
  RRRGNISAVAVRFPPAAPPAEPVTVFPSMLNVAANHPNASTVGLVLPPAAGAGGSRLLVGATYTGYGSSFFPRNR
  SLEDHRFENTPEIAIRSLDTRGDLAKLFTFDLNPSDDNILKIKQGAKEQHKLGFVSAFLHPSDPPPGAQSYAYLA
  LNSEARAGDKESQARSLLARICLPHGAGGDAKKLTESYIQLGLQCAGGAGRGDLYSRLVSVFPARERLFAVFERP
  QGSPAARAAPAALCAFRFADVRAAIRAARTACFVEPAPDVVAVLDSVVQGTGPACERKLNIQLQPEQLDCGAAHL
  QHPLSILQPLKATPVFRAPGLTSVAVASVNNYTAVFLGTVNGRLLKINLNESMQVVSRRVVTVAYGEPVHHVMQF
  DPADSGYLYLMTSHQMARVKVAACNVHSTCGDCVGAADAYCGWCALETRCTLQQDCTNSSQQHFWTSASEGPSRC
  PAMTVLPSEIDVRQEYPGMILQISGSLPSLSGMEMACDYGNNIRTVARVPGPAFGHQIAYCNLLPRDQFPPFPPN
  QDHVTVEMSVRVNGRNIVKANFTIYDCSRTAQVYPHTACTSCLSAQWPCFWCSQQHSCVSNQSRCEASPNPTSPQ
  DCPRTLLSPLAPVPTGGSQNILVPLANTAFFQGAALECSFGLEEIFEAVWVNESVVRCDQVVLHTTRKSQVFPLS
  LQLKGRPARFLDSPEPMTVMVYNCAMGSPDCSQCLGREDLGHLCMWSDGCRLRGPLQPMAGTCPAPEIHAIEPLS
  GPLDGGTLLTIRGRNLGRRLSDVAHGVWIGGVACEPLPDRYTVSEEIVCVTGPAPGPLSGVVTVNASKEGKSRDR
  FSYVLPLVHSLEPTMGPKAGGTRITIHGNDLHVGSELQVLVNDTDPCTELMRTDTSIACTMPEGALPAPVPVCVR
  FERRGCVHGNLTFWYMQNPVITAISPRRSPVSGGRTITVAGERFHMVQNVSMAVHHIGREPTLCKVLNSTLITCP
  SPGALSNASAPVDFFINGRAYADEVAVAEELLDPEEAQRGSRFRLDYLPNPQFSTAKREKWIKHHPGEPLTLVIH
  KEQDSLGLQSHEYRVKIGQVSCDIQIVSDRIIHCSVNESLGAAVGQLPITIQVGNFNQTIATLQLGGSETAIIVS
  IVICSVLLLLSVVALFVFCTKSRRAERYWQKTLLQMEEMESQIREEIRKGFAELQTDMTDLTKELNRSQGIPFLE
  YKHFVTRTFFPKCSSLYEERYVLPSQTLNSQGSSQAQETHPLLGEWKIPESCRPNMEEGISLFSSLLNNKHFLIV
  FVHALEQQKDFAVRDRCSLASLLTIALHGKLEYYTSIMKELLVDLIDASAAKNPKLMLRRTESVVEKMLTNWMSI
  CMYSCLRETVGEPFFLLLCAIKQQINKGSIDAITGKARYTLSEEWLLRENIEAKPRNLNVSFQGCGMDSLSVRAM
  DTDTLTQVKEKILEAFCKNVPYSQWPRAEDVDLEWFASSTQSYILRDLDDTSVVEDGRKKLNTLAHYKIPEGASL
  AMSLIDKKDNTLGRVKDLDTEKYFHLVLPTDELAEPKKSHRQSHRKKVLPEIYLTRLLSTKGTLQKFLDDLFKAI
  LSIREDKPPLAVKYFFDFLEEQAEKRGISDPDTLHIWKTNSLPLRFWVNILKNPQFVFDIDKTDHIDACLSVIAQ
  AFIDACSISDLQLGKDSPTNKLLYAKEIPEYRKIVQRYYKQIQDMTPLSEQEMNAHLAEESRKYQNEFNTNVAMA
  EIYKYAKRYRPQIMAALEANPTARRTQLQHKFEQVVALMEDNIYECYSEA

• Structural information:
  • Protein Domains: (47..54-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352-)
    (891..97-)
    (/note="IPT/TIG-1)
    (981..106-)
    (/note="IPT/TIG-2)
    (1069..116-)
    (/note="IPT/TIG-3")
  • Interpro: IPR013783  IPR014756  IPR002909  IPR031148  IPR042719   IPR013548  IPR002165  IPR016201  IPR008936  IPR001627  IPR036352  IPR041019  IPR015943  
  • Prosite: PS51004
  • CDD: cd11247
  • PDB: 3H6N
  • PDBsum: 3H6N
  • STRING: ENSP00000317128
• Other Databases: GeneCards:  PLXND1  Malacards:  PLXND1

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:0043542	endothelial cell migration	IBA	biological process
GO:0050772	positive regulation of axonogenesis	IBA	biological process
GO:0043542	endothelial cell migration	ISS	biological process
GO:0030334	regulation of cell migration	ISS	biological process
GO:0001525	angiogenesis	ISS	biological process
GO:0071526	semaphorin-plexin signaling pathway	ISS	biological process
GO:0045765	regulation of angiogenesis	ISS	biological process
GO:0017154	semaphorin receptor activity	ISS	molecular function
GO:0007416	synapse assembly	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
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:0042995	cell projection	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0007275	multicellular organism development	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:0007221	positive regulation of transcription of Notch receptor target	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:0060976	coronary vasculature development	IEA	biological process
GO:0060666	dichotomous subdivision of terminal units involved in salivary gland branching	IEA	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IEA	biological process
GO:0045765	regulation of angiogenesis	IEA	biological process
GO:0035904	aorta development	IEA	biological process
GO:0017154	semaphorin receptor activity	IEA	molecular function
GO:0007416	synapse assembly	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0003279	cardiac septum development	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0031258	lamellipodium membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray