PLXND1 - plexin D1 Gene

Also Known as PLEXD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23129

About PLXND1

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:129,555,214-129,606,676 (from NCBI)

This gene has 17 transcripts (splice variants), 191 orthologues, 8 paralogues and is associated with 4 phenotypes. Broad expression in placenta (RPKM 37.7), fat (RPKM 32.1) and 23 other tissues.

Summary

Enables protein domain specific binding activity. Predicted to be involved in several processes, including endothelial cell migration; nervous system development; and regulation of angiogenesis. Predicted to act upstream of or within several processes, including circulatory system development; dichotomous subdivision of terminal units involved in salivary gland branching; and positive regulation of protein binding activity. Located in lamellipodium. [provided by Alliance of Genome Resources, Apr 2022]

PLXND1 Products (1)

mRNA Protein Name
NM_015103.3 NP_055918.3 plexin-D1 precursor
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
17318185 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
24841563 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in lamellipodium IDA
IDA: Inferred from direct assay
24841563 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLXND1 Protein Structure

Sema

Sema: Sema domain (63 - 155)

Sema

Sema: Sema domain (279 - 521)

PSI

PSI: Plexin repeat (549 - 601)

PSI

PSI: Plexin repeat (702 - 753)

TIG

TIG: IPT/TIG domain (891 - 976)

TIG

TIG: IPT/TIG domain (981 - 1063)

TIG

TIG: IPT/TIG domain (1069 - 1143)

Plexin_cytopl

Plexin_cytopl: Plexin cytoplasmic RasGAP domain (1344 - 1888)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1800
  • 1925 a.a.
Protein Preferred Names Protein Names

plexin-D1

PLXND1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
PLXND1 Q9Y4D7 NR4A1 Homo sapiens P22736 24139859
Intra
PLXND1 Q9Y4D7 NR4A1 Homo sapiens P22736
Y2H
24139859
Cross
PLXND1 Q9Y4D7 Sema3e Mus musculus P70275 24139859
Cross
PLXND1 Q9Y4D7 Sema3e Mus musculus P70275 24139859
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Moebius Syndrome
  • Mobius Syndrome

  • Moebius Sequence

  • Oromandibular-Limb Hypogenesis Spectrum

  • Congenital Facial Diplegia

  • MBS

  • Moebius Congenital Oculofacial Paralysis

  • Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

  • Congenital Facial Diplegia Syndrome

  • Congenital Oculofacial Paralysis

  • Congenital Ophthalmoplegia And Facial Paresis

  • Moebius Spectrum

  • Möbius Sequence

  • Möbius Syndrome

  • Mobius Ii Syndrome

Conotruncal Heart Malformations
  • Persistent Truncus Arteriosus

  • Conotruncal Anomaly Face Syndrome

  • Truncus Arteriosus

  • Common Arterial Trunk

  • CTHM

  • Conotruncal Heart Malformations, Variable

  • Tac

  • Truncus Arteriosus Communis

  • Conotruncal Cardiac Defects

  • Common Aorticopulmonary Trunk

  • Cafs

  • Conotruncal Heart Defects

  • Cthd

  • Dorv

  • Double-Outlet Right Ventricle

  • Pta

  • Heart Malformations, Conotruncal

  • Common Truncus

  • Common Truncus Arteriosus

  • Persistent Truncus Arteriosus Or Communis

  • Truncus Communis

  • Common Aortico-Pulmonary Trunk

  • Truncus Arteriosus With Aortic Dominance

  • Truncus Arteriosus With No Aortic Obstruction

  • Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch

  • Truncus Arteriosus With Interrupted Aortic Arch

  • Common Arterial Trunk With Interrupted Aortic Arch

  • Van Praagh Truncus Arteriosus Type A4

Carey-Fineman-Ziter Syndrome 1
  • Carey-Fineman-Ziter Syndrome

  • CFZS

  • Congenital Nonprogressive Myopathy With Moebius And Robin Sequences

  • Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence

  • Cfz Syndrome

  • Carey Fineman Ziter Syndrome

  • Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences

  • Myopathy-Moebius-Robin Syndrome

  • CFZS1

  • Moebius Sequence, Robin Complex, And Hypotonia

  • Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

Spinocerebellar Ataxia 44
  • SCA44

Spondylocostal Dysostosis 1, Autosomal Recessive
  • Jarcho-Levin Syndrome

  • SCDO1

  • Vertebral Anomalies

  • Spondylothoracic Dysplasia

  • Costovertebral Dysplasia

  • Spondylothoracic Dysostosis

  • Spondylocostal Dysostosis 1

  • Autosomal Recessive Spondylocostal Dysostosis 1

  • Spondylocostal Dysostosis, Autosomal Recessive, 1

  • Doid:0112365

  • Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Congenital Fibrosis Of The Extraocular Muscles
  • Congenital Fibrosis Of Extraocular Muscles

  • Cfeom

  • Feom

  • Congenital External Ophthalmoplegia

  • Congenital Fibrosis Syndrome

  • General Fibrosis Syndrome

Kallmann Syndrome
  • Hypogonadism With Anosmia

  • Kallman'S Syndrome

  • Anosmic Hypogonadism

  • Anosmic Idiopathic Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism And Anosmia

  • Hypogonadotropic Hypogonadism-Anosmia Syndrome

  • Olfacto-Genital Pathological Sequence

  • Familial Hypogonadism With Anosmia

  • Kallman Syndrome

  • Dysplasia Olfactogenitalis Of De Morsier

  • Kallmann'S Syndrome

  • Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLXND1 RGD RGD:1310796
Macaca mulatta PLXND1 VGNC VGNC:76191
Bos taurus PLXND1 VGNC VGNC:33065
Canis familiaris PLXND1 VGNC VGNC:44726
Mus musculus PLXND1 MGD MGI:2154244
Felis catus PLXND1 VGNC VGNC:80659
Others PLXND1 NCBI