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Q9HCU0 (CD248_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Endosialin
Alternative name(s):
Tumor endothelial marker 1
CD_antigen=CD248
Gene names
Name:CD248
Synonyms:CD164L1, TEM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length757 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in tumor angiogenesis. Ref.7

Subcellular location

Membrane; Single-pass type I membrane protein Probable.

Tissue specificity

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. Ref.1 Ref.2 Ref.5 Ref.6 Ref.7

Post-translational modification

O-glycosylated with sialylated oligosaccharides. Ref.5

May be N-glycosylated. Ref.5

Sequence similarities

Contains 1 C-type lectin domain.

Contains 1 EGF-like domain.

Contains 1 Sushi (CCP/SCR) domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HCU0-1)

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.
Isoform 2 (identifier: Q9HCU0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-324: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 757740Endosialin
PRO_0000045799

Regions

Topological domain18 – 687670Extracellular Potential
Transmembrane688 – 70821Helical; Potential
Topological domain709 – 75749Cytoplasmic Potential
Domain30 – 156127C-type lectin
Domain162 – 23271Sushi
Domain312 – 35140EGF-like; calcium-binding Potential
Compositional bias400 – 668269Pro-rich

Amino acid modifications

Glycosylation601O-linked (GalNAc...) Potential
Glycosylation4011O-linked (GalNAc...) Potential
Glycosylation4281O-linked (GalNAc...) Potential
Glycosylation4481O-linked (GalNAc...) Potential
Glycosylation4561O-linked (GalNAc...) Potential
Glycosylation4591O-linked (GalNAc...) Potential
Glycosylation4721O-linked (GalNAc...) Potential
Glycosylation5191O-linked (GalNAc...) Potential
Glycosylation5411O-linked (GalNAc...) Potential
Glycosylation5431O-linked (GalNAc...) Potential
Glycosylation5441O-linked (GalNAc...) Potential
Glycosylation5451O-linked (GalNAc...) Potential
Glycosylation5871O-linked (GalNAc...) Potential
Glycosylation5931O-linked (GalNAc...) Potential
Glycosylation5941O-linked (GalNAc...) Potential
Glycosylation5951O-linked (GalNAc...) Potential
Glycosylation5981O-linked (GalNAc...) Potential
Glycosylation6011O-linked (GalNAc...) Potential
Glycosylation6121O-linked (GalNAc...) Potential
Glycosylation6191O-linked (GalNAc...) Potential
Glycosylation6231O-linked (GalNAc...) Potential
Glycosylation6251O-linked (GalNAc...) Potential
Glycosylation6271O-linked (GalNAc...) Potential
Glycosylation6301O-linked (GalNAc...) Potential
Glycosylation6311O-linked (GalNAc...) Potential
Glycosylation6361O-linked (GalNAc...) Potential
Glycosylation6401O-linked (GalNAc...) Potential
Disulfide bond131 ↔ 147 By similarity
Disulfide bond316 ↔ 326 By similarity
Disulfide bond322 ↔ 335 By similarity
Disulfide bond337 ↔ 350 By similarity

Natural variations

Alternative sequence1 – 324324Missing in isoform 2.
VSP_017087
Natural variant61L → F in a colorectal cancer sample; somatic mutation. Ref.8
VAR_036399
Natural variant4571H → R. Ref.4
Corresponds to variant rs3741367 [ dbSNP | Ensembl ].
VAR_025013

Experimental info

Sequence conflict4861A → V in BAB55018. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: C96363EA1FD8FFA0

FASTA75780,859
        10         20         30         40         50         60 
MLLRLLLAWA AAGPTLGQDP WAAEPRAACG PSSCYALFPR RRTFLEAWRA CRELGGDLAT 

        70         80         90        100        110        120 
PRTPEEAQRV DSLVGAGPAS RLLWIGLQRQ ARQCQLQRPL RGFTWTTGDQ DTAFTNWAQP 

       130        140        150        160        170        180 
ASGGPCPAQR CVALEASGEH RWLEGSCTLA VDGYLCQFGF EGACPALQDE AGQAGPAVYT 

       190        200        210        220        230        240 
TPFHLVSTEF EWLPFGSVAA VQCQAGRGAS LLCVKQPEGG VGWSRAGPLC LGTGCSPDNG 

       250        260        270        280        290        300 
GCEHECVEEV DGHVSCRCTE GFRLAADGRS CEDPCAQAPC EQQCEPGGPQ GYSCHCRLGF 

       310        320        330        340        350        360 
RPAEDDPHRC VDTDECQIAG VCQQMCVNYV GGFECYCSEG HELEADGISC SPAGAMGAQA 

       370        380        390        400        410        420 
SQDLGDELLD DGEDEEDEDE AWKAFNGGWT EMPGILWMEP TQPPDFALAY RPSFPEDREP 

       430        440        450        460        470        480 
QIPYPEPTWP PPLSAPRVPY HSSVLSVTRP VVVSATHPTL PSAHQPPVIP ATHPALSRDH 

       490        500        510        520        530        540 
QIPVIAANYP DLPSAYQPGI LSVSHSAQPP AHQPPMISTK YPELFPAHQS PMFPDTRVAG 

       550        560        570        580        590        600 
TQTTTHLPGI PPNHAPLVTT LGAQLPPQAP DALVLRTQAT QLPIIPTAQP SLTTTSRSPV 

       610        620        630        640        650        660 
SPAHQISVPA ATQPAALPTL LPSQSPTNQT SPISPTHPHS KAPQIPREDG PSPKLALWLP 

       670        680        690        700        710        720 
SPAPTAAPTA LGEAGLAEHS QRDDRWLLVA LLVPTCVFLV VLLALGIVYC TRCGPHAPNK 

       730        740        750 
RITDCYRWVI HAGSKSPTEP MPPRGSLTGV QTCRTSV

« Hide

Isoform 2 [UniParc].

Checksum: 64AAB92AB8123618
Show »

FASTA43346,241

References

« Hide 'large scale' references
[1]"Genes expressed in human tumor endothelium."
St Croix B., Rago C., Velculescu V.E., Traverso G., Romans K.E., Montgomery E., Lal A., Riggins G.J., Lengauer C., Vogelstein B., Kinzler K.W.
Science 289:1197-1202(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-6.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00006971.
IPI00719786.
RefSeqNP_065137.1. NM_020404.2.
UniGeneHs.195727.

3D structure databases

ProteinModelPortalQ9HCU0.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000308117.

PTM databases

PhosphoSiteQ9HCU0.

Polymorphism databases

DMDM74752810.

Proteomic databases

PaxDbQ9HCU0.
PRIDEQ9HCU0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311330; ENSP00000308117; ENSG00000174807.
GeneID57124.
KEGGhsa:57124.
UCSCuc001ohm.1. human.

Organism-specific databases

CTD57124.
GeneCardsGC11M066083.
HGNCHGNC:18219. CD248.
HPAHPA051856.
MIM606064. gene.
neXtProtNX_Q9HCU0.
PharmGKBPA134864533.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147482.
HOGENOMHOG000111482.
HOVERGENHBG081065.
InParanoidQ9HCU0.
KOK06706.
OMAEASGEHR.
OrthoDBEOG4X6C7R.
PhylomeDBQ9HCU0.

Gene expression databases

BgeeQ9HCU0.
CleanExHS_CD248.
GenevestigatorQ9HCU0.
GermOnlineENSG00000174807. Homo sapiens.

Family and domain databases

Gene3D3.10.100.10. 1 hit.
InterProIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
[Graphical view]
PfamPF07645. EGF_CA. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTSM00034. CLECT. 1 hit.
SM00181. EGF. 2 hits.
SM00179. EGF_CA. 1 hit.
[Graphical view]
SUPFAMSSF56436. C-type_lectin_fold. 1 hit.
PROSITEPS00615. C_TYPE_LECTIN_1. False negative.
PS50041. C_TYPE_LECTIN_2. 1 hit.
PS00022. EGF_1. False negative.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. False negative.
PS01187. EGF_CA. 1 hit.
PS50923. SUSHI. False negative.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCD248. human.
DrugBankDB00456. Cefalotin.
GenomeRNAi57124.
NextBio63013.
SOURCESearch...

Entry information

Entry nameCD248_HUMAN
AccessionPrimary (citable) accession number: Q9HCU0
Secondary accession number(s): Q2M2V5, Q3SX55, Q96KB6
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: March 1, 2001
Last modified: May 1, 2013
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

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List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

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