PLXND1
Plexin-D1
Also known as: KIAA0620, PLXD1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y4D7
- Gene
- PLXND1
- Ensembl
- ENSG00000004399
- Chromosome
- 3
- Canonical length
- 1925 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
Enables protein domain specific binding activity. Predicted to be involved in several processes, including positive regulation of axonogenesis; semaphorin-plexin signaling pathway; and synapse assembly. Predicted to act upstream of or within circulatory system development; dichotomous subdivision of terminal units involved in salivary gland branching; and kidney development. Located in lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1925 residues, UniProt reviewed canonical sequence.
>Q9Y4D7|PLXND1
1 MAPRAAGGAP LSARAAAASP PPFQTPPRCP VPLLLLLLLG AARAGALEIQ RRFPSPTPTN
61 NFALDGAAGT VYLAAVNRLY QLSGANLSLE AEAAVGPVPD SPLCHAPQLP QASCEHPRRL
121 TDNYNKILQL DPGQGLVVVC GSIYQGFCQL RRRGNISAVA VRFPPAAPPA EPVTVFPSML
181 NVAANHPNAS TVGLVLPPAA GAGGSRLLVG ATYTGYGSSF FPRNRSLEDH RFENTPEIAI
241 RSLDTRGDLA KLFTFDLNPS DDNILKIKQG AKEQHKLGFV SAFLHPSDPP PGAQSYAYLA
301 LNSEARAGDK ESQARSLLAR ICLPHGAGGD AKKLTESYIQ LGLQCAGGAG RGDLYSRLVS
361 VFPARERLFA VFERPQGSPA ARAAPAALCA FRFADVRAAI RAARTACFVE PAPDVVAVLD
421 SVVQGTGPAC ERKLNIQLQP EQLDCGAAHL QHPLSILQPL KATPVFRAPG LTSVAVASVN
481 NYTAVFLGTV NGRLLKINLN ESMQVVSRRV VTVAYGEPVH HVMQFDPADS GYLYLMTSHQ
541 MARVKVAACN VHSTCGDCVG AADAYCGWCA LETRCTLQQD CTNSSQQHFW TSASEGPSRC
601 PAMTVLPSEI DVRQEYPGMI LQISGSLPSL SGMEMACDYG NNIRTVARVP GPAFGHQIAY
661 CNLLPRDQFP PFPPNQDHVT VEMSVRVNGR NIVKANFTIY DCSRTAQVYP HTACTSCLSA
721 QWPCFWCSQQ HSCVSNQSRC EASPNPTSPQ DCPRTLLSPL APVPTGGSQN ILVPLANTAF
781 FQGAALECSF GLEEIFEAVW VNESVVRCDQ VVLHTTRKSQ VFPLSLQLKG RPARFLDSPE
841 PMTVMVYNCA MGSPDCSQCL GREDLGHLCM WSDGCRLRGP LQPMAGTCPA PEIHAIEPLS
901 GPLDGGTLLT IRGRNLGRRL SDVAHGVWIG GVACEPLPDR YTVSEEIVCV TGPAPGPLSG
961 VVTVNASKEG KSRDRFSYVL PLVHSLEPTM GPKAGGTRIT IHGNDLHVGS ELQVLVNDTD
1021 PCTELMRTDT SIACTMPEGA LPAPVPVCVR FERRGCVHGN LTFWYMQNPV ITAISPRRSP
1081 VSGGRTITVA GERFHMVQNV SMAVHHIGRE PTLCKVLNST LITCPSPGAL SNASAPVDFF
1141 INGRAYADEV AVAEELLDPE EAQRGSRFRL DYLPNPQFST AKREKWIKHH PGEPLTLVIH
1201 KEQDSLGLQS HEYRVKIGQV SCDIQIVSDR IIHCSVNESL GAAVGQLPIT IQVGNFNQTI
1261 ATLQLGGSET AIIVSIVICS VLLLLSVVAL FVFCTKSRRA ERYWQKTLLQ MEEMESQIRE
1321 EIRKGFAELQ TDMTDLTKEL NRSQGIPFLE YKHFVTRTFF PKCSSLYEER YVLPSQTLNS
1381 QGSSQAQETH PLLGEWKIPE SCRPNMEEGI SLFSSLLNNK HFLIVFVHAL EQQKDFAVRD
1441 RCSLASLLTI ALHGKLEYYT SIMKELLVDL IDASAAKNPK LMLRRTESVV EKMLTNWMSI
1501 CMYSCLRETV GEPFFLLLCA IKQQINKGSI DAITGKARYT LSEEWLLREN IEAKPRNLNV
1561 SFQGCGMDSL SVRAMDTDTL TQVKEKILEA FCKNVPYSQW PRAEDVDLEW FASSTQSYIL
1621 RDLDDTSVVE DGRKKLNTLA HYKIPEGASL AMSLIDKKDN TLGRVKDLDT EKYFHLVLPT
1681 DELAEPKKSH RQSHRKKVLP EIYLTRLLST KGTLQKFLDD LFKAILSIRE DKPPLAVKYF
1741 FDFLEEQAEK RGISDPDTLH IWKTNSLPLR FWVNILKNPQ FVFDIDKTDH IDACLSVIAQ
1801 AFIDACSISD LQLGKDSPTN KLLYAKEIPE YRKIVQRYYK QIQDMTPLSE QEMNAHLAEE
1861 SRKYQNEFNT NVAMAEIYKY AKRYRPQIMA ALEANPTARR TQLQHKFEQV VALMEDNIYE
1921 CYSEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLXND1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 105 nTPM
Expression across tissuesHPA
Tissue
- placenta: 105 nTPM
- adipose tissue: 68 nTPM
- lung: 64 nTPM
- thymus: 58 nTPM
- cervix: 55 nTPM
- smooth muscle: 49 nTPM
Single-cell type
- hofbauer cells: 154 nCPM
- vascular endothelial cells: 132 nCPM
- macrophages: 115 nCPM
- pericytes: 97 nCPM
- lymphatic endothelial cells: 93 nCPM
- kupffer cells: 79 nCPM
Immune cell
- classical monocyte: 11 nTPM
- MAIT T-cell: 6.9 nTPM
- non-classical monocyte: 5.2 nTPM
- intermediate monocyte: 5.1 nTPM
- plasmacytoid DC: 3.6 nTPM
- NK-cell: 3.1 nTPM
Brain region
- thalamus: 76 nTPM
- medulla oblongata: 73 nTPM
- midbrain: 60 nTPM
- white matter: 59 nTPM
- pons: 56 nTPM
- spinal cord: 51 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLXND1.
Disease | AllUniProt
Conditions PLXND1 is implicated in, by any mechanism.
- Congenital heart defects, multiple types, 9 (CHTD9) MIM:620294
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 470 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital heart defects, multiple types, 9
Disease | AutoantibodyPubMed
Conditions in which antibodies against PLXND1 are reported. Each links to that disease's full target list.
Showing 0 of 2 — disease pages carrying at least 10 antigens.
ReferencesPubMed · IEDB
Publications for PLXND1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
8 publications
- Effectiveness of IVIG on Non-Length-Dependent Skin Biopsies in Small Fiber Neuropathy With Plexin D1, Trisulfated Heparin Disaccharide, and Fibroblast Growth Factor Receptor 3 Autoantibodies.
2024 · J Clin Neuromuscul Dis · RCR 3.4 · 12 citations - Immune-Mediated Small Fiber Neuropathy With Trisulfated Heparin Disaccharide, Fibroblast Growth Factor Receptor 3, or Plexin D1 Antibodies: Presentation and Treatment With Intravenous Immunoglobulin.
2022 · J Clin Neuromuscul Dis · RCR 1.5 · 14 citations - A Novel Autoantibody against Plexin D1 in Patients with Neuropathic Pain.
2018 · Ann Neurol · RCR 1.3 · 29 citations - Novel Neuropathic Pain Mechanisms Associated With Allergic Inflammation.
2019 · Front Neurol · RCR 0.9 · 15 citations - Painful trigeminal neuropathy associated with anti-Plexin D1 antibody.
2020 · Neurol Neuroimmunol Neuroinflamm · RCR 0.6 · 10 citations
Show 3 more
- Small-Vessel Vasculitis or Perifolliculitis in Small-Fiber Neuropathy With TS-HDS, FGFR-3, or Plexin D1 Antibodies.
2024 · J Clin Neuromuscul Dis · RCR 0.4 · 2 citations - [Small Fiber Neuropathy with Inadequate Response to Medical Therapy: Diagnosis of The Etiology of Small Fiber Neuropathy and Treatment Option].
2022 · Brain Nerve · RCR 0.2 · 1 citations - Nationwide Survey of Atopic Myelitis and Plexin D1-Immunoglobulin G-Related Pain.
2026 · Ann Clin Transl Neurol
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.35
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- aorta development
- branching involved in blood vessel morphogenesis
- cardiac septum development
- coronary vasculature development
- dichotomous subdivision of terminal units involved in salivary gland branching
- endothelial cell migration
- kidney development
- negative regulation of cell adhesion
- negative regulation of neuron apoptotic process
- outflow tract morphogenesis
- positive regulation of axonogenesis
- regulation of angiogenesis
- regulation of cell migration
- regulation of cell shape
- semaphorin-plexin signaling pathway
- synapse assembly
- synaptic target recognition
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sema domain
- Plexin repeat
- IPT domain
- Rho GTPase activation protein
- Plexin, cytoplasmic RasGAP domain
- Immunoglobulin-like fold
- Immunoglobulin E-set
- WD40/YVTN repeat-like-containing domain superfamily
- PSI domain
- Plexin family
- Sema domain superfamily
- Plexin, TIG domain 1
- Plexin, cytoplasmic RhoGTPase-binding domain
- Sema domain
- Plexin repeat
- IPT/TIG domain
- Plexin cytoplasmic RasGAP domain
- TIG domain
- Plexin cytoplasmic RhoGTPase-binding domain
- Plexin-D1, sema domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PLXND1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLXND1 as an antibody target. Whether an autoantibody or antibody against PLXND1 could matter depends on whether native PLXND1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLXND1 is annotated at the cell surface, where native PLXND1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PLXND1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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