LAMB1
entrez
3912
canonical
uniprot
P07942
canonical
ensembl
ENSG00000091136
resolver
ensp
ENSP00000222399
resolver
ensp
ENSP00000503081
resolver
ensp
ENSP00000504656
resolver
ensp
ENSP00000522307
resolver
ensp
ENSP00000613346
resolver
enst
ENST00000222399
resolver
enst
ENST00000676574
resolver
enst
ENST00000679244
resolver
enst
ENST00000852248
resolver
enst
ENST00000943287
resolver
genesymbol
LAMB1
resolver
hgnc
HGNC:6486
resolver
uniprot
A0A7I2V2T9
resolver
uniprot
A0A7I2V5R0
resolver
uniprot
Q14D91
resolver
uniprot
Q8TAS6
resolver
uniprot_entry
A0A7I2V2T9_HUMAN
resolver
uniprot_entry
A0A7I2V5R0_HUMAN
resolver
uniprot_entry
LAMB1_HUMAN
resolver
uniprot_entry
Q8TAS6_HUMAN
resolver
uniprot_sec
Q14D91
resolver
amino_acid_sequence
MGLLQLLAFSFLALCRARVRAQEPEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQSENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPSTEGEVIFRALDPAFKIEDPYSPRIQNLLKITNLRIKFVKLHTLGDNLLDSRMEIREKYYYAVYDMVVRGNCFCYGHASECAPVDGFNEEVEGMVHGHCMCRHNTKGLNCELCMDFYHDLPWRPAEGRNSNACKKCNCNEHSISCHFDMAVYLATGNVSGGVCDDCQHNTMGRNCEQCKPFYYQHPERDIRDPNFCERCTCDPAGSQNEGICDSYTDFSTGLIAGQCRCKLNVEGEHCDVCKEGFYDLSSEDPFGCKSCACNPLGTIPGGNPCDSETGHCYCKRLVTGQHCDQCLPEHWGLSNDLDGCRPCDCDLGGALNNSCFAESGQCSCRPHMIGRQCNEVEPGYYFATLDHYLYEAEEANLGPGVSIVERQYIQDRIPSWTGAGFVRVPEGAYLEFFIDNIPYSMEYDILIRYEPQLPDHWEKAVITVQRPGRIPTSSRCGNTIPDDDNQVVSLSPGSRYVVLPRPVCFEKGTNYTVRLELPQYTSSDSDVESPYTLIDSLVLMPYCKSLDIFTVGGSGDGVVTNSAWETFQRYRCLENSRSVVKTPMTDVCRNIIFSISALLHQTGLACECDPQGSLSSVCDPNGGQCQCRPNVVGRTCNRCAPGTFGFGPSGCKPCECHLQGSVNAFCNPVTGQCHCFQGVYARQCDRCLPGHWGFPSCQPCQCNGHADDCDPVTGECLNCQDYTMGHNCERCLAGYYGDPIIGSGDHCRPCPCPDGPDSGRQFARSCYQDPVTLQLACVCDPGYIGSRCDDCASGYFGNPSEVGGSCQPCQCHNNIDTTDPEACDKETGRCLKCLYHTEGEHCQFCRFGYYGDALQQDCRKCVCNYLGTVQEHCNGSDCQCDKATGQCLCLPNVIGQNCDRCAPNTWQLASGTGCDPCNCNAAHSFGPSCNEFTGQCQCMPGFGGRTCSECQELFWGDPDVECRACDCDPRGIETPQCDQSTGQCVCVEGVEGPRCDKCTRGYSGVFPDCTPCHQCFALWDVIIAELTNRTHRFLEKAKALKISGVIGPYRETVDSVERKVSEIKDILAQSPAAEPLKNIGNLFEEAEKLIKDVTEMMAQVEVKLSDTTSQSNSTAKELDSLQTEAESLDNTVKELAEQLEFIKNSDIRGALDSITKYFQMSLEAEERVNASTTEPNSTVEQSALMRDRVEDVMMERESQFKEKQEEQARLLDELAGKLQSLDLSAAAEMTCGTPPGASCSETECGGPNCRTDEGERKCGGPGCGGLVTVAHNAWQKAMDLDQDVLSALAEVEQLSKMVSEAKLRADEAKQSAEDILLKTNATKEKMDKSNEELRNLIKQIRNFLTQDSADLDSIEAVANEVLKMEMPSTPQQLQNLTEDIRERVESLSQVEVILQHSAADIARAEMLLEEAKRASKSATDVKVTADMVKEALEEAEKAQVAAEKAIKQADEDIQGTQNLLTSIESETAASEETLFNASQRISELERNVEELKRKAAQNSGEAEYIEKVVYTVKQSAEDVKKTLDGELDEKYKKVENLIAKKTEESADARRKAEMLQNEAKTLLAQANSKLQLLKDLERKYEDNQRYLEDKAQELARLEGEVRSLLKDISQKVAVYSTCL
uniprot
proteins
disease_involvement
DISEASE: Leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus (LKBMH) [MIM:615191]: An autosomal recessive disorder of brain development characterized by hydrocephalus, white matter abnormalities, periventricular or diffuse leukodystrophy, cobblestone lissencephaly, gyral defects or polymicrogyria, cystic changes, and cerebellar hypoplasia. Affected individuals have impaired intellectual development, seizures, and severely delayed psychomotor development. {ECO:0000269|PubMed:23472759, ECO:0000269|PubMed:25925986, ECO:0000269|PubMed:29888467, ECO:0000269|PubMed:32725632, ECO:0000269|PubMed:41364132}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukoencephalopathy without lacunae, adult-onset (LUCAO) [MIM:621424]: An autosomal dominant disorder characterized by episodic memory dysfunction of the hippocampal type starting during the sixth decade of life, and a diffuse vascular leukoencephalopathy without lacunar infarct. {ECO:0000269|PubMed:34606115, ECO:0000269|PubMed:37063705}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of the cerebral cortex (PubMed:23472759). It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons (By similarity). Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface (By similarity). As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway (By similarity). {ECO:0000250|UniProtKB:P02469, ECO:0000269|PubMed:23472759}.
uniprot
proteins
mass_dalton
198038
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1975589
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23472759
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25925986
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
29888467
uniprot
proteins
pubmed
32725632
uniprot
proteins
pubmed
34606115
uniprot
proteins
pubmed
3611077
uniprot
proteins
pubmed
3661559
uniprot
proteins
pubmed
37063705
uniprot
proteins
pubmed
41364132
uniprot
proteins
sequence_length
1786
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
uniprot
proteins