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Q9HCU0

- CD248_HUMAN

UniProt

Q9HCU0 - CD248_HUMAN

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Protein

Endosialin

Gene

CD248

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

Functioni

May play a role in tumor angiogenesis.1 Publication

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. carbohydrate binding Source: UniProtKB-KW
  3. extracellular matrix binding Source: Ensembl

GO - Biological processi

  1. anatomical structure regression Source: Ensembl
  2. cell migration Source: Ensembl
  3. lymph node development Source: Ensembl
  4. positive regulation of cell proliferation Source: Ensembl
  5. positive regulation of endothelial cell apoptotic process Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Calcium, Lectin

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:18219. CD248.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 687670ExtracellularSequence AnalysisAdd
BLAST
Transmembranei688 – 70821HelicalSequence AnalysisAdd
BLAST
Topological domaini709 – 75749CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. extracellular vesicular exosome Source: UniProtKB
  3. integral component of membrane Source: UniProtKB-KW
  4. proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134864533.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717Sequence AnalysisAdd
BLAST
Chaini18 – 757740EndosialinPRO_0000045799Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi60 – 601O-linked (GalNAc...)Sequence Analysis
Disulfide bondi131 ↔ 147PROSITE-ProRule annotation
Disulfide bondi316 ↔ 326PROSITE-ProRule annotation
Disulfide bondi322 ↔ 335PROSITE-ProRule annotation
Disulfide bondi337 ↔ 350PROSITE-ProRule annotation
Glycosylationi401 – 4011O-linked (GalNAc...)Sequence Analysis
Glycosylationi428 – 4281O-linked (GalNAc...)Sequence Analysis
Glycosylationi448 – 4481O-linked (GalNAc...)Sequence Analysis
Glycosylationi456 – 4561O-linked (GalNAc...)Sequence Analysis
Glycosylationi459 – 4591O-linked (GalNAc...)Sequence Analysis
Glycosylationi472 – 4721O-linked (GalNAc...)Sequence Analysis
Glycosylationi519 – 5191O-linked (GalNAc...)Sequence Analysis
Glycosylationi541 – 5411O-linked (GalNAc...)Sequence Analysis
Glycosylationi543 – 5431O-linked (GalNAc...)Sequence Analysis
Glycosylationi544 – 5441O-linked (GalNAc...)Sequence Analysis
Glycosylationi545 – 5451O-linked (GalNAc...)Sequence Analysis
Glycosylationi587 – 5871O-linked (GalNAc...)Sequence Analysis
Glycosylationi593 – 5931O-linked (GalNAc...)Sequence Analysis
Glycosylationi594 – 5941O-linked (GalNAc...)Sequence Analysis
Glycosylationi595 – 5951O-linked (GalNAc...)Sequence Analysis
Glycosylationi598 – 5981O-linked (GalNAc...)Sequence Analysis
Glycosylationi601 – 6011O-linked (GalNAc...)Sequence Analysis
Glycosylationi612 – 6121O-linked (GalNAc...)Sequence Analysis
Glycosylationi619 – 6191O-linked (GalNAc...)Sequence Analysis
Glycosylationi623 – 6231O-linked (GalNAc...)Sequence Analysis
Glycosylationi625 – 6251O-linked (GalNAc...)Sequence Analysis
Glycosylationi627 – 6271O-linked (GalNAc...)Sequence Analysis
Glycosylationi630 – 6301O-linked (GalNAc...)Sequence Analysis
Glycosylationi631 – 6311O-linked (GalNAc...)Sequence Analysis
Glycosylationi636 – 6361O-linked (GalNAc...)Sequence Analysis
Glycosylationi640 – 6401O-linked (GalNAc...)Sequence Analysis

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9HCU0.
PRIDEiQ9HCU0.

PTM databases

PhosphoSiteiQ9HCU0.

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

BgeeiQ9HCU0.
CleanExiHS_CD248.
GenevestigatoriQ9HCU0.

Organism-specific databases

HPAiHPA051856.

Interactioni

Protein-protein interaction databases

BioGridi121387. 1 interaction.
IntActiQ9HCU0. 1 interaction.
STRINGi9606.ENSP00000308117.

Structurei

3D structure databases

ProteinModelPortaliQ9HCU0.
SMRiQ9HCU0. Positions 19-157, 242-357.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 156127C-type lectinPROSITE-ProRule annotationAdd
BLAST
Domaini162 – 23271SushiAdd
BLAST
Domaini312 – 35140EGF-like; calcium-bindingSequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi400 – 668269Pro-richAdd
BLAST

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

eggNOGiNOG147482.
GeneTreeiENSGT00770000120465.
HOGENOMiHOG000111482.
HOVERGENiHBG081065.
InParanoidiQ9HCU0.
KOiK06706.
OMAiEASGEHR.
OrthoDBiEOG7ZGX2D.
PhylomeDBiQ9HCU0.
TreeFamiTF330714.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view]
PfamiPF07645. EGF_CA. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTiSM00034. CLECT. 1 hit.
SM00181. EGF. 2 hits.
SM00179. EGF_CA. 1 hit.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti486 – 4861A → V in BAB55018. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61L → F in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036399
Natural varianti457 – 4571H → R.1 Publication
Corresponds to variant rs3741367 [ dbSNP | Ensembl ].
VAR_025013

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 324324Missing in isoform 2. 1 PublicationVSP_017087Add
BLAST

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]

Polymorphism databases

DMDMi74752810.

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 .
CCDSi CCDS8134.1. [Q9HCU0-1 ]
RefSeqi NP_065137.1. NM_020404.2. [Q9HCU0-1 ]
UniGenei Hs.195727.

3D structure databases

ProteinModelPortali Q9HCU0.
SMRi Q9HCU0. Positions 19-157, 242-357.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121387. 1 interaction.
IntActi Q9HCU0. 1 interaction.
STRINGi 9606.ENSP00000308117.

PTM databases

PhosphoSitei Q9HCU0.

Polymorphism databases

DMDMi 74752810.

Proteomic databases

PaxDbi Q9HCU0.
PRIDEi Q9HCU0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311330 ; ENSP00000308117 ; ENSG00000174807 . [Q9HCU0-1 ]
GeneIDi 57124.
KEGGi hsa:57124.
UCSCi uc001ohm.1. human. [Q9HCU0-1 ]

Organism-specific databases

CTDi 57124.
GeneCardsi GC11M066083.
HGNCi HGNC:18219. CD248.
HPAi HPA051856.
MIMi 606064. gene.
neXtProti NX_Q9HCU0.
PharmGKBi PA134864533.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG147482.
GeneTreei ENSGT00770000120465.
HOGENOMi HOG000111482.
HOVERGENi HBG081065.
InParanoidi Q9HCU0.
KOi K06706.
OMAi EASGEHR.
OrthoDBi EOG7ZGX2D.
PhylomeDBi Q9HCU0.
TreeFami TF330714.

Miscellaneous databases

ChiTaRSi CD248. human.
GeneWikii CD248.
GenomeRNAii 57124.
NextBioi 63013.
PROi Q9HCU0.
SOURCEi Search...

Gene expression databases

Bgeei Q9HCU0.
CleanExi HS_CD248.
Genevestigatori Q9HCU0.

Family and domain databases

Gene3Di 3.10.100.10. 1 hit.
InterProi IPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view ]
Pfami PF07645. EGF_CA. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view ]
SMARTi SM00034. CLECT. 1 hit.
SM00181. EGF. 2 hits.
SM00179. EGF_CA. 1 hit.
[Graphical view ]
SUPFAMi SSF56436. SSF56436. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEi PS50041. C_TYPE_LECTIN_2. 1 hit.
PS01186. EGF_2. 1 hit.
PS01187. EGF_CA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  2. "Molecular cloning and characterization of endosialin, a C-type lectin-like cell surface receptor of tumor endothelium."
    Christian S., Ahorn H., Koehler A., Eisenhaber F., Rodi H.P., Garin-Chesa P., Park J.E., Rettig W.J., Lenter M.C.
    J. Biol. Chem. 276:7408-7414(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Embryo.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-457.
    Tissue: Brain.
  5. "Identification of endosialin, a cell surface glycoprotein of vascular endothelial cells in human cancer."
    Rettig W.J., Garin-Chesa P., Healey J.H., Su S.L., Jaffe E.A., Old L.J.
    Proc. Natl. Acad. Sci. U.S.A. 89:10832-10836(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, GLYCOSYLATION.
  6. "Characterization of cancer stroma markers: in silico analysis of an mRNA expression database for fibroblast activation protein and endosialin."
    Dolznig H., Schweifer N., Puri C., Kraut N., Rettig W.J., Kerjaschki D., Garin-Chesa P.
    Cancer Immun. 5:10-10(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "Endosialin (TEM1, CD248) is a marker of stromal fibroblasts and is not selectively expressed on tumour endothelium."
    MacFadyen J.R., Haworth O., Roberston D., Hardie D., Webster M.T., Morris H.R., Panico M., Sutton-Smith M., Dell A., van der Geer P., Wienke D., Buckley C.D., Isacke C.M.
    FEBS Lett. 579:2569-2575(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.
  8. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-6.

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 26, 2014
This is version 115 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

External Data

Dasty 3