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MGP000464

UniProt Annotations

Entry Information
Gene NameCD44 molecule (Indian blood group)
Protein Entry
UniProt IDP16070
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=19; Comment=Additional isoforms seem to exist. Additional isoforms are produced by alternative splicing of 10 out of 19 exons within the extracellular domain. Additional diversity is generated through the utilization of internal splice donor and acceptor sites within 2 of the exons. A variation in the cytoplasmic domain was shown to result from the alternative splicing of 2 exons. Isoform CD44 is expected to be expressed in normal cells. Splice variants have been found in many tumor cell lines. Exons 5, 6, 7, 8, 9, 10, 11, 13, 14 and 19 are alternatively spliced. Experimental confirmation may be lacking for some isoforms. {ECO:0000269|PubMed:1465456}; Name=1; Synonyms=CD44; IsoId=P16070-1; Sequence=Displayed; Note=Corresponds to the largest isoform.; Name=2; Synonyms=CD44SP; IsoId=P16070-2; Sequence=VSP_005303, VSP_005304; Name=3; IsoId=P16070-3; Sequence=VSP_005305, VSP_005306; Note=Alternative splice donor/acceptor on exon 5.; Name=4; Synonyms=Epidermal; IsoId=P16070-4; Sequence=VSP_005307, VSP_005308; Note=Lacks exon 6.; Name=5; IsoId=P16070-5; Sequence=VSP_005313; Note=Alternative splice donor/acceptor on exon 7.; Name=6; IsoId=P16070-6; Sequence=VSP_005314, VSP_005315; Note=Lacks exon 10.; Name=7; IsoId=P16070-7; Sequence=VSP_005316, VSP_005317; Note=Lacks exon 13.; Name=8; IsoId=P16070-8; Sequence=VSP_005318, VSP_005319; Note=Lacks exon 14.; Name=9; IsoId=P16070-9; Sequence=VSP_005320, VSP_005321; Note=Lacks exon 19.; Name=10; Synonyms=CD44E, CD44R1, Epithelial, Keratinocyte; IsoId=P16070-10; Sequence=VSP_005309, VSP_005310; Note=Lacks exons 6-11.; Name=11; Synonyms=CD44R2; IsoId=P16070-11; Sequence=VSP_022797; Note=Lacks exons 6-13.; Name=12; Synonyms=CDw44, Reticulocyte; IsoId=P16070-12; Sequence=VSP_005311, VSP_005312; Note=Lacks exons 6-14.; Name=13; Synonyms=CD44R4; IsoId=P16070-13; Sequence=VSP_005309, VSP_005310, VSP_005318, VSP_005319; Note=Lacks exons 6-11 and exon 14.; Name=14; Synonyms=CD44R5; IsoId=P16070-14; Sequence=VSP_005309, VSP_005310, VSP_005316, VSP_005317, VSP_005318, VSP_005319; Note=Lacks exons 6-11, exon 13 and exon 14.; Name=15; Synonyms=Hermes; IsoId=P16070-15; Sequence=VSP_005311, VSP_005312, VSP_005320, VSP_005321; Note=Lacks exons 6-14 and exon 19.; Name=16; IsoId=P16070-16; Sequence=VSP_005305, VSP_005306, VSP_005314, VSP_005315; Note=Alternative splice donor/acceptor on exon 5 and lacks exon 10.; Name=17; IsoId=P16070-17; Sequence=VSP_005313, VSP_005314, VSP_005315; Note=Alternative splice donor/acceptor on exon 7 and lacks exon 10.; Name=18; IsoId=P16070-18; Sequence=VSP_005311, VSP_005312, VSP_043575; Note=No experimental confirmation available.; Name=19; Synonyms=CD44RC; IsoId=P16070-19; Sequence=VSP_043870, VSP_043871; Note=Soluble isoform, has enhanced hyaluronan binding.;
DomainThe lectin-like LINK domain is responsible for hyaluronan binding. {ECO:0000250}.
FunctionReceptor for hyaluronic acid (HA). Mediates cell-cell and cell-matrix interactions through its affinity for HA, and possibly also through its affinity for other ligands such as osteopontin, collagens, and matrix metalloproteinases (MMPs). Adhesion with HA plays an important role in cell migration, tumor growth and progression. In cancer cells, may play an important role in invadopodia formation. Also involved in lymphocyte activation, recirculation and homing, and in hematopoiesis. Altered expression or dysfunction causes numerous pathogenic phenotypes. Great protein heterogeneity due to numerous alternative splicing and post-translational modification events. {ECO:0000269|PubMed:16541107}.
InteractionP18011:ipaB (xeno); NbExp=4; IntAct=EBI-490245, EBI-490239; P26038:MSN; NbExp=6; IntAct=EBI-490245, EBI-528768; Q9UPY5:SLC7A11; NbExp=4; IntAct=EBI-490245, EBI-3843348; P10451:SPP1; NbExp=2; IntAct=EBI-490245, EBI-723648;
PolymorphismCD44 is responsible for the Indian blood group system. The molecular basis of the In(A)=In1/In(B)=In2 blood group antigens is a single variation in position 46; In(B), the most frequent allele, has Arg-46.
PtmN- and O-glycosylated. O-glycosylation contains more-or-less- sulfated chondroitin sulfate glycans, whose number may affect the accessibility of specific proteinases to their cleavage site(s). It is uncertain if O-glycosylation occurs on Thr-637 or Thr-638. {ECO:0000269|PubMed:12883358, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:22171320}.
PtmPhosphorylated; activation of PKC results in the dephosphorylation of Ser-706 (constitutive phosphorylation site), and the phosphorylation of Ser-672. {ECO:0000269|PubMed:12032545, ECO:0000269|PubMed:17081983, ECO:0000269|PubMed:18691976, ECO:0000269|PubMed:19367720, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692, ECO:0000269|PubMed:9580567}.
PtmProteolytically cleaved in the extracellular matrix by specific proteinases (possibly MMPs) in several cell lines and tumors. {ECO:0000269|PubMed:12883358}.
SimilarityContains 1 Link domain. {ECO:0000255|PROSITE- ProRule:PRU00323}.
Subcellular LocationCell membrane; Single-pass type I membrane protein. Note=Colocalizes with actin in membrane protrusions at wounding edges. {ECO:0000250}.
SubunitInteracts with PKN2. Interacts with TIAM1 and TIAM2 (By similarity). Interacts with HA, as well as other glycosaminoglycans, collagen, laminin, and fibronectin via its N- terminal segment. Interacts with ANK, the ERM proteins (VIL2, RDX and MSN), and NF2 via its C-terminal segment. Interacts with UNC119. {ECO:0000250, ECO:0000269|PubMed:14992719, ECO:0000269|PubMed:17085435, ECO:0000269|PubMed:19381274}.
Tissue SpecificityIsoform 10 (epithelial isoform) is expressed by cells of epithelium and highly expressed by carcinomas. Expression is repressed in neuroblastoma cells.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CD44ID980CH11p13.html";
Web ResourceName=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=indian";
Web ResourceName=Wikipedia; Note=CD44 entry; URL="http://en.wikipedia.org/wiki/CD44";
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