Human Gene CD164 (uc003pte.3) Description and Page Index
Description: Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA. RefSeq Summary (NM_006016): This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]. Transcript (Including UTRs) Position: hg19 chr6:109,687,717-109,703,762 Size: 16,046 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr6:109,690,054-109,703,581 Size: 13,528 Coding Exon Count: 6
ID:MUC24_HUMAN DESCRIPTION: RecName: Full=Sialomucin core protein 24; Short=MUC-24; AltName: Full=Endolyn; AltName: Full=Multi-glycosylated core protein 24; Short=MGC-24; Short=MGC-24v; AltName: CD_antigen=CD164; Flags: Precursor; FUNCTION: Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity). SUBUNIT: Homodimer (isoform 4). Interacts with CXCR4. SUBCELLULAR LOCATION: Lysosome membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform 2: Secreted (Potential). TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in hematopoietic and non-hematopoietic tissues. Isoform 1 is expressed by prostate cancer tumors and prostate cancer cell lines. The expression is greater in bone metastases than in primary tumors. Expression in osseous metastasis is greater than that in soft tissue metastasis. Isoform 2 is expressed in the small intestine, colon, lung, thyroid and in colorectal and pancreatic adenocarcinoma. Isoform 4 is expressed by both hematopoietic progenitor cells and bone marrow stromal cells. INDUCTION: Up-regulated by CXCL12 in prostate cancer cell lines. PTM: Highly N- and O-glycosylated; contains sialic acid. PTM: The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain. SIMILARITY: Belongs to the CD164 family.
Genetic Association Studies of Complex Diseases and Disorders
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.
Pfam Domains: PF05283 - Multi-glycosylated core protein 24 (MGC-24), sialomucin
ModBase Predicted Comparative 3D Structure on Q04900
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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.