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Q9HCU0

- CD248_HUMAN

UniProt

Q9HCU0 - CD248_HUMAN

Protein

Endosialin

Gene

CD248

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    May play a role in tumor angiogenesis.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. carbohydrate binding Source: InterPro
    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

    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

    GO - Cellular componenti

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

    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.
    STRINGi9606.ENSP00000308117.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCU0.
    SMRiQ9HCU0. Positions 19-157, 210-380.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei688 – 70821HelicalSequence AnalysisAdd
    BLAST

    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.
    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

    MLLRLLLAWA AAGPTLGQDP WAAEPRAACG PSSCYALFPR RRTFLEAWRA    50
    CRELGGDLAT PRTPEEAQRV DSLVGAGPAS RLLWIGLQRQ ARQCQLQRPL 100
    RGFTWTTGDQ DTAFTNWAQP ASGGPCPAQR CVALEASGEH RWLEGSCTLA 150
    VDGYLCQFGF EGACPALQDE AGQAGPAVYT TPFHLVSTEF EWLPFGSVAA 200
    VQCQAGRGAS LLCVKQPEGG VGWSRAGPLC LGTGCSPDNG GCEHECVEEV 250
    DGHVSCRCTE GFRLAADGRS CEDPCAQAPC EQQCEPGGPQ GYSCHCRLGF 300
    RPAEDDPHRC VDTDECQIAG VCQQMCVNYV GGFECYCSEG HELEADGISC 350
    SPAGAMGAQA SQDLGDELLD DGEDEEDEDE AWKAFNGGWT EMPGILWMEP 400
    TQPPDFALAY RPSFPEDREP QIPYPEPTWP PPLSAPRVPY HSSVLSVTRP 450
    VVVSATHPTL PSAHQPPVIP ATHPALSRDH QIPVIAANYP DLPSAYQPGI 500
    LSVSHSAQPP AHQPPMISTK YPELFPAHQS PMFPDTRVAG TQTTTHLPGI 550
    PPNHAPLVTT LGAQLPPQAP DALVLRTQAT QLPIIPTAQP SLTTTSRSPV 600
    SPAHQISVPA ATQPAALPTL LPSQSPTNQT SPISPTHPHS KAPQIPREDG 650
    PSPKLALWLP SPAPTAAPTA LGEAGLAEHS QRDDRWLLVA LLVPTCVFLV 700
    VLLALGIVYC TRCGPHAPNK RITDCYRWVI HAGSKSPTEP MPPRGSLTGV 750
    QTCRTSV 757
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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, 210-380.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121387. 1 interaction.
    STRINGi 9606.ENSP00000308117.

    Chemistry

    DrugBanki DB00456. Cefalotin.

    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.
    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

    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: October 1, 2014
    This is version 113 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