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FLASH GENE

Symbol

PLXND1

contributors: mct/npt - updated : 28-11-2018

HGNC name	plexin D1
HGNC id	9107

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3q21.3      Physical location : 129.274.055 - 129.325.582
Synonym symbol(s)	PLEXD1, KIAA0620, MGC75353

DNA

TYPE	functioning gene
STRUCTURE	51.53 kb     36 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015103 36 - 6977 NP_055918 - 1925 - Tamagnone (1999)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal SEMA homology domain
	two typical and atypical cysteine rich domains sharing homology with the scatter factor reception (MET family) MRS
	a single transmembrane segment (1TM)
	a sorting motif that interacts with the adaptor protein GIPC1 to facilitate transport to recycling endosomes

HOMOLOGY

Homologene

FAMILY	calcium-dependent cell adhesion molecule family
	plexin family

CATEGORY

receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	receptors for multiple (and perhaps all) classes of semaphorins, either alone or in combination with neuropilins, and trigger a novel signal transduction pathway controlling cell repulsion (Tamagnone 1999)
	its expression during tumor development is strongly correlated with both invasive behavior and metastasis (Roodink 2008)
	important role in directing migration of maturing thymocytes via modulation of biological responses to chemokine gradients (Choi 2008)
	novel role of SEMA3E-PLXND1 function in modulating angiogenesis via a VEGFA-induced feedback mechanism (pMID: 21724832)
	potential role of PLXND1 in cervical cancer-associated angiogenesis
	PLXND1 operates in a cell context-specific fashion, mediating different synaptogenic outcomes depending upon neuron type
	PLXND1 is a pivotal mediator of this signaling axis downstream of NOTCH in prostate cancer cells
	PLXND1 signaling controls likely filopodium-like lateral protrusion (FLP) formation and the termination of neuronal migration through a precise control of microtubule dynamics.

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	receptor for the semaphorin 7A (SEMA7A)
	semaphorin 3E (Sema3E), one of the ligands for PLXND1, has previously been correlated with invasive behavior and metastasis, suggesting that the PLXND1-SEMA3E interaction may play a role in tumor progression (Roodink 2008)
	receptor of SEMA3E (interacting during the formation of proprioceptive sensory–motor reflex circuits) (Pecho-Vrieseling 2009)
	SH3BP1 mediates SEMA3E-induced cell collapse through interaction with PLXND1 and regulation RAC1 activity
	SEMA3E/PLXND1 modulates Immunological synapse (IS) formation and Ag-scanning activities of thymocytes within thymic tissues
	mesenchymal SEMA3D guides outgrowth of the common cardinal vein via repulsion and signals through PLXND1
	SEMA3G induces cell collapse in an NRP2/PLXND1-dependent manner
	GIPC1-mediated endocytic trafficking regulates PLXND1 signaling, and PLXND1 binding to GIPC1 releases the autoinhibition, promoting its interaction with myosin VI

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in metastatic melanomas (Roodink 2008) tumoral       gain of function in melanoma, breast, colon, ovarian and prostate cancers constitutional germinal mutation       in PLXND1 and REV3L that are responsible for a proportion of Möbius syndrome (MBS) patients suggesting that de novo mutations in other genes might account for other MBS patients constitutional germinal mutation       in isolated truncus arteriosus

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	might be a potential cervical cancer biomarker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate NOTCH1-PLXND1 signaling axis may be targeted to impair prostate cancer cell invasiveness and metastasis

ANIMAL & CELL MODELS

PlxnD1(-/-) mice exhibited defective germinal center (GC) reactions during T-dependent immune activation