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Protein

Plexin domain-containing protein 1

Gene

PLXDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a critical role in endothelial cell capillary morphogenesis.By similarity

GO - Biological processi

  • angiogenesis Source: UniProtKB
  • spinal cord development Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Plexin domain-containing protein 1
Alternative name(s):
Tumor endothelial marker 3
Tumor endothelial marker 7
Gene namesi
Name:PLXDC1
Synonyms:TEM3, TEM7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:20945. PLXDC1.

Subcellular locationi

Isoform 1 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 426ExtracellularSequence analysisAdd BLAST408
Transmembranei427 – 447HelicalSequence analysisAdd BLAST21
Topological domaini448 – 500CytoplasmicSequence analysisAdd BLAST53

GO - Cellular componenti

  • bicellular tight junction Source: UniProtKB-SubCell
  • cytoplasm Source: UniProtKB-SubCell
  • dendrite Source: Ensembl
  • extracellular region Source: UniProtKB-SubCell
  • extracellular space Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • intracellular Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: UniProtKB
  • receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Secreted, Tight junction

Pathology & Biotechi

Organism-specific databases

DisGeNETi57125.
OpenTargetsiENSG00000161381.
PharmGKBiPA134990658.

Polymorphism and mutation databases

BioMutaiPLXDC1.
DMDMi93140676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000023275119 – 500Plexin domain-containing protein 1Add BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi80N-linked (GlcNAc...)Sequence analysis1
Glycosylationi197N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8IUK5.
PeptideAtlasiQ8IUK5.
PRIDEiQ8IUK5.

PTM databases

iPTMnetiQ8IUK5.
PhosphoSitePlusiQ8IUK5.

Expressioni

Tissue specificityi

Detected in endothelial cells from colorectal cancer, and in endothelial cells from primary cancers of the lung, liver, pancreas, breast and brain. Not detectable in endothelial cells from normal tissue. Expressed in fibrovascular membrane with increased expression in individuals with proliferative diabetic retinopathy.4 Publications

Gene expression databases

BgeeiENSG00000161381.
CleanExiHS_PLXDC1.
ExpressionAtlasiQ8IUK5. baseline and differential.
GenevisibleiQ8IUK5. HS.

Organism-specific databases

HPAiHPA012805.

Interactioni

Subunit structurei

Interacts with NID1. May interact with CTTN.1 Publication

Protein-protein interaction databases

BioGridi121388. 1 interactor.
STRINGi9606.ENSP00000323927.

Structurei

3D structure databases

ProteinModelPortaliQ8IUK5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the plexin family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3848. Eukaryota.
ENOG410Y7ZQ. LUCA.
GeneTreeiENSGT00440000033408.
HOGENOMiHOG000234044.
HOVERGENiHBG079500.
InParanoidiQ8IUK5.
OMAiVEDNHSY.
OrthoDBiEOG091G0827.
PhylomeDBiQ8IUK5.
TreeFamiTF314400.

Family and domain databases

InterProiIPR002165. Plexin_repeat.
IPR031152. PLXDC.
IPR031153. PLXDC1.
[Graphical view]
PANTHERiPTHR13055. PTHR13055. 1 hit.
PTHR13055:SF10. PTHR13055:SF10. 1 hit.
PfamiPF01437. PSI. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IUK5-1) [UniParc]FASTAAdd to basket
Also known as: TEM7-M

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRGELWLLVL VLREAARALS PQPGAGHDEG PGSGWAAKGT VRGWNRRARE
60 70 80 90 100
SPGHVSEPDR TQLSQDLGGG TLAMDTLPDN RTRVVEDNHS YYVSRLYGPS
110 120 130 140 150
EPHSRELWVD VAEANRSQVK IHTILSNTHR QASRVVLSFD FPFYGHPLRQ
160 170 180 190 200
ITIATGGFIF MGDVIHRMLT ATQYVAPLMA NFNPGYSDNS TVVYFDNGTV
210 220 230 240 250
FVVQWDHVYL QGWEDKGSFT FQAALHHDGR IVFAYKEIPM SVPEISSSQH
260 270 280 290 300
PVKTGLSDAF MILNPSPDVP ESRRRSIFEY HRIELDPSKV TSMSAVEFTP
310 320 330 340 350
LPTCLQHRSC DACMSSDLTF NCSWCHVLQR CSSGFDRYRQ EWMDYGCAQE
360 370 380 390 400
AEGRMCEDFQ DEDHDSASPD TSFSPYDGDL TTTSSSLFID SLTTEDDTKL
410 420 430 440 450
NPYAGGDGLQ NNLSPKTKGT PVHLGTIVGI VLAVLLVAAI ILAGIYINGH
460 470 480 490 500
PTSNAALFFI ERRPHHWPAM KFRSHPDHST YAEVEPSGHE KEGFMEAEQC
Length:500
Mass (Da):55,760
Last modified:April 18, 2006 - v2
Checksum:iC545A16619EEDBED
GO
Isoform 2 (identifier: Q8IUK5-2) [UniParc]FASTAAdd to basket
Also known as: TEM7-S1

The sequence of this isoform differs from the canonical sequence as follows:
     331-358: CSSGFDRYRQEWMDYGCAQEAEGRMCED → SLNNQDENTYVNCLDSQQCHGSSESRRP
     359-500: Missing.

Show »
Length:358
Mass (Da):40,211
Checksum:iCDE94ADB85C32E36
GO
Isoform 3 (identifier: Q8IUK5-3) [UniParc]FASTAAdd to basket
Also known as: TEM7-S2

The sequence of this isoform differs from the canonical sequence as follows:
     330-337: RCSSGFDR → SRDEVSPC
     338-500: Missing.

Show »
Length:337
Mass (Da):37,764
Checksum:iD21C3B1D8FCCBFB9
GO
Isoform 4 (identifier: Q8IUK5-4) [UniParc]FASTAAdd to basket
Also known as: TEM7-I

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.
     331-358: CSSGFDRYRQEWMDYGCAQEAEGRMCED → SLNNQDENTYVNCLDSQQCHGSSESRRP

Show »
Length:427
Mass (Da):47,895
Checksum:iDDBAD61DDBD16209
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti153I → M in AAH36059 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064050462R → H.1 PublicationCorresponds to variant rs75117355dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0179701 – 73Missing in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_017971330 – 337RCSSGFDR → SRDEVSPC in isoform 3. 1 Publication8
Alternative sequenceiVSP_017972331 – 358CSSGF…RMCED → SLNNQDENTYVNCLDSQQCH GSSESRRP in isoform 2 and isoform 4. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_017973338 – 500Missing in isoform 3. 1 PublicationAdd BLAST163
Alternative sequenceiVSP_017974359 – 500Missing in isoform 2. 1 PublicationAdd BLAST142

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279144 mRNA. Translation: AAG00869.2.
AF378753 mRNA. Translation: AAL11990.1.
AY704670 mRNA. Translation: AAV85657.1.
AY704671 mRNA. Translation: AAV85658.1.
AY704672 mRNA. Translation: AAV85659.1.
AK312999 mRNA. Translation: BAG35835.1.
BC036059 mRNA. Translation: AAH36059.1.
CCDSiCCDS11333.1. [Q8IUK5-1]
RefSeqiNP_065138.2. NM_020405.4. [Q8IUK5-1]
UniGeneiHs.125036.

Genome annotation databases

EnsembliENST00000315392; ENSP00000323927; ENSG00000161381. [Q8IUK5-1]
ENST00000578390; ENSP00000462089; ENSG00000161381. [Q8IUK5-3]
GeneIDi57125.
KEGGihsa:57125.
UCSCiuc002hrg.2. human. [Q8IUK5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279144 mRNA. Translation: AAG00869.2.
AF378753 mRNA. Translation: AAL11990.1.
AY704670 mRNA. Translation: AAV85657.1.
AY704671 mRNA. Translation: AAV85658.1.
AY704672 mRNA. Translation: AAV85659.1.
AK312999 mRNA. Translation: BAG35835.1.
BC036059 mRNA. Translation: AAH36059.1.
CCDSiCCDS11333.1. [Q8IUK5-1]
RefSeqiNP_065138.2. NM_020405.4. [Q8IUK5-1]
UniGeneiHs.125036.

3D structure databases

ProteinModelPortaliQ8IUK5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121388. 1 interactor.
STRINGi9606.ENSP00000323927.

PTM databases

iPTMnetiQ8IUK5.
PhosphoSitePlusiQ8IUK5.

Polymorphism and mutation databases

BioMutaiPLXDC1.
DMDMi93140676.

Proteomic databases

PaxDbiQ8IUK5.
PeptideAtlasiQ8IUK5.
PRIDEiQ8IUK5.

Protocols and materials databases

DNASUi57125.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315392; ENSP00000323927; ENSG00000161381. [Q8IUK5-1]
ENST00000578390; ENSP00000462089; ENSG00000161381. [Q8IUK5-3]
GeneIDi57125.
KEGGihsa:57125.
UCSCiuc002hrg.2. human. [Q8IUK5-1]

Organism-specific databases

CTDi57125.
DisGeNETi57125.
GeneCardsiPLXDC1.
HGNCiHGNC:20945. PLXDC1.
HPAiHPA012805.
MIMi606826. gene.
neXtProtiNX_Q8IUK5.
OpenTargetsiENSG00000161381.
PharmGKBiPA134990658.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3848. Eukaryota.
ENOG410Y7ZQ. LUCA.
GeneTreeiENSGT00440000033408.
HOGENOMiHOG000234044.
HOVERGENiHBG079500.
InParanoidiQ8IUK5.
OMAiVEDNHSY.
OrthoDBiEOG091G0827.
PhylomeDBiQ8IUK5.
TreeFamiTF314400.

Miscellaneous databases

GeneWikiiPLXDC1.
GenomeRNAii57125.
PROiQ8IUK5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000161381.
CleanExiHS_PLXDC1.
ExpressionAtlasiQ8IUK5. baseline and differential.
GenevisibleiQ8IUK5. HS.

Family and domain databases

InterProiIPR002165. Plexin_repeat.
IPR031152. PLXDC.
IPR031153. PLXDC1.
[Graphical view]
PANTHERiPTHR13055. PTHR13055. 1 hit.
PTHR13055:SF10. PTHR13055:SF10. 1 hit.
PfamiPF01437. PSI. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPLDX1_HUMAN
AccessioniPrimary (citable) accession number: Q8IUK5
Secondary accession number(s): B2R7I8
, Q5QCZ7, Q5QCZ8, Q5QCZ9, Q9HCT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: April 18, 2006
Last modified: November 2, 2016
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.