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Protein

Endosialin

Gene

CD248

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

Functioni

May play a role in tumor angiogenesis.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, Lectin

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174807-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Endosialin
Alternative name(s):
Tumor endothelial marker 1
CD_antigen: CD248
Gene namesi
Name:CD248
Synonyms:CD164L1, TEM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:18219. CD248.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini18 – 687ExtracellularSequence analysisAdd BLAST670
Transmembranei688 – 708HelicalSequence analysisAdd BLAST21
Topological domaini709 – 757CytoplasmicSequence analysisAdd BLAST49

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57124.
OpenTargetsiENSG00000174807.
PharmGKBiPA134864533.

Polymorphism and mutation databases

BioMutaiCD248.
DMDMi74752810.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000004579918 – 757EndosialinAdd BLAST740

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi60O-linked (GalNAc...)Sequence analysis1
Disulfide bondi131 ↔ 147PROSITE-ProRule annotation
Disulfide bondi316 ↔ 326PROSITE-ProRule annotation
Disulfide bondi322 ↔ 335PROSITE-ProRule annotation
Disulfide bondi337 ↔ 350PROSITE-ProRule annotation
Glycosylationi401O-linked (GalNAc...)Sequence analysis1
Glycosylationi428O-linked (GalNAc...)Sequence analysis1
Glycosylationi448O-linked (GalNAc...)Sequence analysis1
Glycosylationi456O-linked (GalNAc...)Sequence analysis1
Glycosylationi459O-linked (GalNAc...)Sequence analysis1
Glycosylationi472O-linked (GalNAc...)Sequence analysis1
Glycosylationi519O-linked (GalNAc...)Sequence analysis1
Glycosylationi541O-linked (GalNAc...)Sequence analysis1
Glycosylationi543O-linked (GalNAc...)Sequence analysis1
Glycosylationi544O-linked (GalNAc...)Sequence analysis1
Glycosylationi545O-linked (GalNAc...)Sequence analysis1
Glycosylationi587O-linked (GalNAc...)Sequence analysis1
Glycosylationi593O-linked (GalNAc...)Sequence analysis1
Glycosylationi594O-linked (GalNAc...)Sequence analysis1
Glycosylationi595O-linked (GalNAc...)Sequence analysis1
Glycosylationi598O-linked (GalNAc...)Sequence analysis1
Glycosylationi601O-linked (GalNAc...)Sequence analysis1
Glycosylationi612O-linked (GalNAc...)Sequence analysis1
Glycosylationi619O-linked (GalNAc...)Sequence analysis1
Glycosylationi623O-linked (GalNAc...)Sequence analysis1
Glycosylationi625O-linked (GalNAc...)Sequence analysis1
Glycosylationi627O-linked (GalNAc...)Sequence analysis1
Glycosylationi630O-linked (GalNAc...)Sequence analysis1
Glycosylationi631O-linked (GalNAc...)Sequence analysis1
Glycosylationi636O-linked (GalNAc...)Sequence analysis1
Glycosylationi640O-linked (GalNAc...)Sequence analysis1
Modified residuei746PhosphoserineCombined sources1

Post-translational modificationi

O-glycosylated with sialylated oligosaccharides.1 Publication
May be N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9HCU0.
PeptideAtlasiQ9HCU0.
PRIDEiQ9HCU0.

PTM databases

iPTMnetiQ9HCU0.
PhosphoSitePlusiQ9HCU0.

Expressioni

Tissue specificityi

Expressed in tumor endothelial cells but absent or barely detectable in normal endothelial cells. Expressed in metastatic lesions of the liver and during angiogenesis of corpus luteum formation and wound healing. Expressed in vascular endothelial cells of malignant tumors but not in normal blood vessels. Expressed in stromal fibroblasts.5 Publications

Gene expression databases

BgeeiENSG00000174807.
CleanExiHS_CD248.
GenevisibleiQ9HCU0. HS.

Organism-specific databases

HPAiHPA051856.

Interactioni

Protein-protein interaction databases

BioGridi121387. 1 interactor.
IntActiQ9HCU0. 2 interactors.
STRINGi9606.ENSP00000308117.

Structurei

3D structure databases

ProteinModelPortaliQ9HCU0.
SMRiQ9HCU0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 156C-type lectinPROSITE-ProRule annotationAdd BLAST127
Domaini162 – 232SushiAdd BLAST71
Domaini312 – 351EGF-like; calcium-bindingSequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi400 – 668Pro-richAdd BLAST269

Sequence similaritiesi

Contains 1 C-type lectin domain.PROSITE-ProRule annotation
Contains 1 EGF-like domain.Curated
Contains 1 Sushi (CCP/SCR) domain.Curated

Keywords - Domaini

EGF-like domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJQN. Eukaryota.
ENOG410ZKXP. LUCA.
GeneTreeiENSGT00810000125382.
HOGENOMiHOG000111482.
HOVERGENiHBG081065.
InParanoidiQ9HCU0.
KOiK06706.
OMAiEASGEHR.
OrthoDBiEOG091G035H.
PhylomeDBiQ9HCU0.
TreeFamiTF330714.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR016187. CTDL_fold.
IPR001881. EGF-like_Ca-bd_dom.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
[Graphical view]
PfamiPF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTiSM00034. CLECT. 1 hit.
SM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
[Graphical view]
SUPFAMiSSF56436. SSF56436. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS50041. C_TYPE_LECTIN_2. 1 hit.
PS01186. EGF_2. 1 hit.
PS01187. EGF_CA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HCU0-1) [UniParc]FASTAAdd to basket

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
MLLRLLLAWA AAGPTLGQDP WAAEPRAACG PSSCYALFPR RRTFLEAWRA
60 70 80 90 100
CRELGGDLAT PRTPEEAQRV DSLVGAGPAS RLLWIGLQRQ ARQCQLQRPL
110 120 130 140 150
RGFTWTTGDQ DTAFTNWAQP ASGGPCPAQR CVALEASGEH RWLEGSCTLA
160 170 180 190 200
VDGYLCQFGF EGACPALQDE AGQAGPAVYT TPFHLVSTEF EWLPFGSVAA
210 220 230 240 250
VQCQAGRGAS LLCVKQPEGG VGWSRAGPLC LGTGCSPDNG GCEHECVEEV
260 270 280 290 300
DGHVSCRCTE GFRLAADGRS CEDPCAQAPC EQQCEPGGPQ GYSCHCRLGF
310 320 330 340 350
RPAEDDPHRC VDTDECQIAG VCQQMCVNYV GGFECYCSEG HELEADGISC
360 370 380 390 400
SPAGAMGAQA SQDLGDELLD DGEDEEDEDE AWKAFNGGWT EMPGILWMEP
410 420 430 440 450
TQPPDFALAY RPSFPEDREP QIPYPEPTWP PPLSAPRVPY HSSVLSVTRP
460 470 480 490 500
VVVSATHPTL PSAHQPPVIP ATHPALSRDH QIPVIAANYP DLPSAYQPGI
510 520 530 540 550
LSVSHSAQPP AHQPPMISTK YPELFPAHQS PMFPDTRVAG TQTTTHLPGI
560 570 580 590 600
PPNHAPLVTT LGAQLPPQAP DALVLRTQAT QLPIIPTAQP SLTTTSRSPV
610 620 630 640 650
SPAHQISVPA ATQPAALPTL LPSQSPTNQT SPISPTHPHS KAPQIPREDG
660 670 680 690 700
PSPKLALWLP SPAPTAAPTA LGEAGLAEHS QRDDRWLLVA LLVPTCVFLV
710 720 730 740 750
VLLALGIVYC TRCGPHAPNK RITDCYRWVI HAGSKSPTEP MPPRGSLTGV

QTCRTSV
Length:757
Mass (Da):80,859
Last modified:March 1, 2001 - v1
Checksum:iC96363EA1FD8FFA0
GO
Isoform 2 (identifier: Q9HCU0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-324: Missing.

Note: No experimental confirmation available.
Show »
Length:433
Mass (Da):46,241
Checksum:i64AAB92AB8123618
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti486A → V in BAB55018 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0363996L → F in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_025013457H → R.1 PublicationCorresponds to variant rs3741367dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0170871 – 324Missing in isoform 2. 1 PublicationAdd BLAST324

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279142 mRNA. Translation: AAG00867.1.
AJ295846 mRNA. Translation: CAC34381.1.
AK027290 mRNA. Translation: BAB55018.1.
BC051340 mRNA. Translation: AAH51340.1.
BC104484 mRNA. Translation: AAI04485.1.
BC105633 mRNA. Translation: AAI05634.1.
CCDSiCCDS8134.1. [Q9HCU0-1]
RefSeqiNP_065137.1. NM_020404.2. [Q9HCU0-1]
UniGeneiHs.195727.

Genome annotation databases

EnsembliENST00000311330; ENSP00000308117; ENSG00000174807. [Q9HCU0-1]
GeneIDi57124.
KEGGihsa:57124.
UCSCiuc001ohm.1. human. [Q9HCU0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Functional Glycomics Gateway - Glycan Binding

Endosialin

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279142 mRNA. Translation: AAG00867.1.
AJ295846 mRNA. Translation: CAC34381.1.
AK027290 mRNA. Translation: BAB55018.1.
BC051340 mRNA. Translation: AAH51340.1.
BC104484 mRNA. Translation: AAI04485.1.
BC105633 mRNA. Translation: AAI05634.1.
CCDSiCCDS8134.1. [Q9HCU0-1]
RefSeqiNP_065137.1. NM_020404.2. [Q9HCU0-1]
UniGeneiHs.195727.

3D structure databases

ProteinModelPortaliQ9HCU0.
SMRiQ9HCU0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121387. 1 interactor.
IntActiQ9HCU0. 2 interactors.
STRINGi9606.ENSP00000308117.

PTM databases

iPTMnetiQ9HCU0.
PhosphoSitePlusiQ9HCU0.

Polymorphism and mutation databases

BioMutaiCD248.
DMDMi74752810.

Proteomic databases

PaxDbiQ9HCU0.
PeptideAtlasiQ9HCU0.
PRIDEiQ9HCU0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311330; ENSP00000308117; ENSG00000174807. [Q9HCU0-1]
GeneIDi57124.
KEGGihsa:57124.
UCSCiuc001ohm.1. human. [Q9HCU0-1]

Organism-specific databases

CTDi57124.
DisGeNETi57124.
GeneCardsiCD248.
HGNCiHGNC:18219. CD248.
HPAiHPA051856.
MIMi606064. gene.
neXtProtiNX_Q9HCU0.
OpenTargetsiENSG00000174807.
PharmGKBiPA134864533.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJQN. Eukaryota.
ENOG410ZKXP. LUCA.
GeneTreeiENSGT00810000125382.
HOGENOMiHOG000111482.
HOVERGENiHBG081065.
InParanoidiQ9HCU0.
KOiK06706.
OMAiEASGEHR.
OrthoDBiEOG091G035H.
PhylomeDBiQ9HCU0.
TreeFamiTF330714.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174807-MONOMER.

Miscellaneous databases

ChiTaRSiCD248. human.
GeneWikiiCD248.
GenomeRNAii57124.
PROiQ9HCU0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174807.
CleanExiHS_CD248.
GenevisibleiQ9HCU0. HS.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR016187. CTDL_fold.
IPR001881. EGF-like_Ca-bd_dom.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
[Graphical view]
PfamiPF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTiSM00034. CLECT. 1 hit.
SM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
[Graphical view]
SUPFAMiSSF56436. SSF56436. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS50041. C_TYPE_LECTIN_2. 1 hit.
PS01186. EGF_2. 1 hit.
PS01187. EGF_CA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCD248_HUMAN
AccessioniPrimary (citable) accession number: Q9HCU0
Secondary accession number(s): Q2M2V5, Q3SX55, Q96KB6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 132 of the entry and version 1 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 cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. 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.