Description: Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA. RefSeq Summary (NM_000610): The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr11:35,160,417-35,253,949 Size: 93,533 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr11:35,160,851-35,250,880 Size: 90,030 Coding Exon Count: 18
ID:CD44_HUMAN DESCRIPTION: RecName: Full=CD44 antigen; AltName: Full=CDw44; AltName: Full=Epican; AltName: Full=Extracellular matrix receptor III; Short=ECMR-III; AltName: Full=GP90 lymphocyte homing/adhesion receptor; AltName: Full=HUTCH-I; AltName: Full=Heparan sulfate proteoglycan; AltName: Full=Hermes antigen; AltName: Full=Hyaluronate receptor; AltName: Full=Phagocytic glycoprotein 1; Short=PGP-1; AltName: Full=Phagocytic glycoprotein I; Short=PGP-I; AltName: CD_antigen=CD44; Flags: Precursor; FUNCTION: Receptor 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. 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. SUBUNIT: Interacts with PKN2 (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. INTERACTION: P18011:ipaB (xeno); NbExp=4; IntAct=EBI-490245, EBI-490239; Q9UPY5:SLC7A11; NbExp=4; IntAct=EBI-490245, EBI-3843348; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Note=Colocalizes with actin in membrane protrusions at wounding edges (By similarity). TISSUE SPECIFICITY: Isoform 10 (epithelial isoform) is expressed by cells of epithelium and highly expressed by carcinomas. Expression is repressed in neuroblastoma cells. DOMAIN: The lectin-like LINK domain is responsible for hyaluronan binding (By similarity). PTM: Proteolytically cleaved in the extracellular matrix by specific proteinases (possibly MMPs) in several cell lines and tumors. PTM: N- 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. PTM: Phosphorylated; activation of PKC results in the dephosphorylation of Ser-706 (constitutive phosphorylation site), and the phosphorylation of Ser-672. POLYMORPHISM: CD44 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. SIMILARITY: Contains 1 Link domain. WEB RESOURCE: Name=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 RESOURCE: Name=Wikipedia; Note=CD44 entry; URL="http://en.wikipedia.org/wiki/CD44";
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CD44 CDC HuGE Published Literature: CD44 Positive Disease Associations: Hemoglobin A, Glycosylated
, Stroke Related Studies:
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P16070
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.