LMOD1
entrez
25802
canonical
uniprot
P29536
canonical
ensembl
ENSG00000163431
resolver
ensp
ENSP00000356257
resolver
genesymbol
LMOD1
resolver
hgnc
HGNC:6647
resolver
uniprot
B1APV6
resolver
uniprot
C4AMB1
resolver
uniprot
Q68EN2
resolver
uniprot_entry
LMOD1_HUMAN
resolver
uniprot_sec
B1APV6
resolver
uniprot_sec
C4AMB1
resolver
uniprot_sec
Q68EN2
resolver
amino_acid_sequence
MSRVAKYRRQVSEDPDIDSLLETLSPEEMEELEKELDVVDPDGSVPVGLRQRNQTEKQSTGVYNREAMLNFCEKETKKLMQREMSMDESKQVETKTDAKNGEERGRDASKKALGPRRDSDLGKEPKRGGLKKSFSRDRDEAGGKSGEKPKEEKIIRGIDKGRVRAAVDKKEAGKDGRGEERAVATKKEEEKKGSDRNTGLSRDKDKKREEMKEVAKKEDDEKVKGERRNTDTRKEGEKMKRAGGNTDMKKEDEKVKRGTGNTDTKKDDEKVKKNEPLHEKEAKDDSKTKTPEKQTPSGPTKPSEGPAKVEEEAAPSIFDEPLERVKNNDPEMTEVNVNNSDCITNEILVRFTEALEFNTVVKLFALANTRADDHVAFAIAIMLKANKTITSLNLDSNHITGKGILAIFRALLQNNTLTELRFHNQRHICGGKTEMEIAKLLKENTTLLKLGYHFELAGPRMTVTNLLSRNMDKQRQKRLQEQRQAQEAKGEKKDLLEVPKAGAVAKGSPKPSPQPSPKPSPKNSPKKGGAPAAPPPPPPPLAPPLIMENLKNSLSPATQRKMGDKVLPAQEKNSRDQLLAAIRSSNLKQLKKVEVPKLLQ
uniprot
proteins
disease_involvement
DISEASE: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (MMIHS3) [MIM:619362]: A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3 inheritance is autosomal recessive. {ECO:0000269|PubMed:28292896}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for proper contractility of visceral smooth muscle cells (PubMed:28292896). Mediates nucleation of actin filaments. {ECO:0000269|PubMed:26370058, ECO:0000269|PubMed:28292896}.
uniprot
proteins
mass_dalton
67030
uniprot
proteins
protein_family
Tropomodulin family
uniprot
proteins
pubmed
11318603
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
2026759
uniprot
proteins
pubmed
26370058
uniprot
proteins
pubmed
27144530
uniprot
proteins
pubmed
28292896
uniprot
proteins
sequence_length
600
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:26370058}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A0A0G2K0D3}. Note=Colocalizes with actin filaments in sarcomeres. {ECO:0000250|UniProtKB:A0A0G2K0D3}.
uniprot
proteins