CLMP
entrez
79827
canonical
uniprot
Q9H6B4
canonical
ensembl
ENSG00000166250
resolver
ensp
ENSP00000405577
resolver
ensp
ENSP00000520511
resolver
ensp
ENSP00000566703
resolver
ensp
ENSP00000583078
resolver
enst
ENST00000448775
resolver
enst
ENST00000715744
resolver
enst
ENST00000896644
resolver
enst
ENST00000913019
resolver
genesymbol
CLMP
resolver
genesymbol_syn
ACAM
resolver
genesymbol_syn
ASAM
resolver
hgnc
HGNC:24039
resolver
uniprot
B4E3S3
resolver
uniprot_entry
B4E3S3_HUMAN
resolver
uniprot_entry
CLMP_HUMAN
resolver
amino_acid_sequence
MSLLLLLLLVSYYVGTLGTHTEIKRVAEEKVTLPCHHQLGLPEKDTLDIEWLLTDNEGNQKVVITYSSRHVYNNLTEEQKGRVAFASNFLAGDASLQIEPLKPSDEGRYTCKVKNSGRYVWSHVILKVLVRPSKPKCELEGELTEGSDLTLQCESSSGTEPIVYYWQRIREKEGEDERLPPKSRIDYNHPGRVLLQNLTMSYSGLYQCTAGNEAGKESCVVRVTVQYVQSIGMVAGAVTGIVAGALLIFLLVWLLIRRKDKERYEEEERPNEIREDAEAPKARLVKPSSSSSGSRSSRSGSSSTRSTANSASRSQRTLSTDAAPQPGLATQAYSLVGPEVRGSEPKKVHHANLTKAETTPSMIPSQSRAFQTV
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22155368}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:14573622, ECO:0000269|PubMed:15563274, ECO:0000269|PubMed:22155368}.
uniprot
proteins
mass_dalton
41281
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14573622
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15563274
uniprot
proteins
pubmed
22155368
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:14573622, ECO:0000269|PubMed:22155368}. Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 236..256; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins