Homo sapiens Protein: CLMP | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-384217.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CLMP | ||||||||||||||||||
Protein Name | CXADR-like membrane protein | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000405577 | ||||||||||||||||||
InnateDB Gene | IDBG-74860 (CLMP) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development. {ECO:0000269PubMed:14573622, ECO:0000269PubMed:15563274, ECO:0000269PubMed:22155368}. | ||||||||||||||||||
Subcellular Localization | Cell junction, tight junction {ECO:0000269PubMed:14573622, ECO:0000269PubMed:22155368}. Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. | ||||||||||||||||||
Disease Associations | Congenital short bowel syndrome (CSBS) [MIM:615237]: A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life. {ECO:0000269PubMed:22155368}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Predominantly expressed in epithelial cells within different tissues and in the white adipose tissue. Expressed at high levels in small intestine and placenta, at intermediate levels in the heart, skeletal muscle, colon, spleen, kidney and lung and at low levels in the liver and peripheral blood leukocytes. Highly abundant in the intestine during embryo and fetal development (at protein level). {ECO:0000269PubMed:14573622, ECO:0000269PubMed:15563274, ECO:0000269PubMed:22155368}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR003596
Immunoglobulin V-set, subgroup IPR003598 Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013106 Immunoglobulin V-set domain IPR013270 CD47 immunoglobulin-like |
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PFAM |
PF07679
PF07686 PF08204 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00406
SM00408 SM00409 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9H6B4 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H6B4 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 79827 | ||||||||||||||||||
UniGene | Hs.591949 | ||||||||||||||||||
RefSeq | NP_079045 | ||||||||||||||||||
HUGO | HGNC:24039 | ||||||||||||||||||
OMIM | 611693 | ||||||||||||||||||
CCDS | CCDS8441 | ||||||||||||||||||
HPRD | 16513 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AK026068 AY326422 AY358340 BC009371 BK001245 | ||||||||||||||||||
GenPept | AAH09371 AAP88386 AAQ88706 BAB15347 DAA01139 | ||||||||||||||||||