LAMB3
entrez
3914
canonical
uniprot
Q13751
canonical
ensembl
ENSG00000196878
resolver
ensp
ENSP00000348384
resolver
ensp
ENSP00000355997
resolver
ensp
ENSP00000375778
resolver
ensp
ENSP00000557403
resolver
ensp
ENSP00000557407
resolver
ensp
ENSP00000557408
resolver
enst
ENST00000356082
resolver
enst
ENST00000367030
resolver
enst
ENST00000391911
resolver
enst
ENST00000887344
resolver
enst
ENST00000887348
resolver
genesymbol
LAMB3
resolver
genesymbol_syn
LAMNB1
resolver
hgnc
HGNC:6490
resolver
uniprot
A0A0S2Z3R6
resolver
uniprot
D3DT88
resolver
uniprot
O14947
resolver
uniprot
Q14733
resolver
uniprot
Q9UJK4
resolver
uniprot
Q9UJL1
resolver
uniprot_entry
A0A0S2Z3R6_HUMAN
resolver
uniprot_entry
LAMB3_HUMAN
resolver
uniprot_sec
D3DT88
resolver
uniprot_sec
O14947
resolver
uniprot_sec
Q14733
resolver
uniprot_sec
Q9UJK4
resolver
uniprot_sec
Q9UJL1
resolver
amino_acid_sequence
MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASSTCGLTKPETYCTQYGEWQMKCCKCDSRQPHNYYSHRVENVASSSGPMRWWQSQNDVNPVSLQLDLDRRFQLQEVMMEFQGPMPAGMLIERSSDFGKTWRVYQYLAADCTSTFPRVRQGRPQSWQDVRCQSLPQRPNARLNGGKVQLNLMDLVSGIPATQSQKIQEVGEITNLRVNFTRLAPVPQRGYHPPSAYYAVSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCVCQHNTAGPNCERCAPFYNNRPWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYGGVCDNCRDHTEGKNCERCQLHYFRNRRPGASIQETCISCECDPDGAVPGAPCDPVTGQCVCKEHVQGERCDLCKPGFTGLTYANPQGCHRCDCNILGSRRDMPCDEESGRCLCLPNVVGPKCDQCAPYHWKLASGQGCEPCACDPHNSLSPQCNQFTGQCPCREGFGGLMCSAAAIRQCPDRTYGDVATGCRACDCDFRGTEGPGCDKASGRCLCRPGLTGPRCDQCQRGYCNRYPVCVACHPCFQTYDADLREQALRFGRLRNATASLWSGPGLEDRGLASRILDAKSKIEQIRAVLSSPAVTEQEVAQVASAILSLRRTLQGLQLDLPLEEETLSLPRDLESLDRSFNGLLTMYQRKREQFEKISSADPSGAFRMLSTAYEQSAQAAQQVSDSSRLLDQLRDSRREAERLVRQAGGGGGTGSPKLVALRLEMSSLPDLTPTFNKLCGNSRQMACTPISCPGELCPQDNGTACGSRCRGVLPRAGGAFLMAGQVAEQLRGFNAQLQRTRQMIRAAEESASQIQSSAQRLETQVSASRSQMEEDVRRTRLLIQQVRDFLTDPDTDAATIQEVSEAVLALWLPTDSATVLQKMNEIQAIAARLPNVDLVLSQTKQDIARARRLQAEAEEARSRAHAVEGQVEDVVGNLRQGTVALQEAQDTMQGTSRSLRLIQDRVAEVQQVLRPAEKLVTSMTKQLGDFWTRMEELRHQARQQGAEAVQAQQLAEGASEQALSAQEGFERIKQKYAELKDRLGQSSMLGEQGARIQSVKTEAEELFGETMEMMDRMKDMELELLRGSQAIMLRSADLTGLEKRVEQIRDHINGRVLYYATCK
uniprot
proteins
disease_involvement
DISEASE: Epidermolysis bullosa, junctional 1B, severe (JEB1B) [MIM:226700]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1B is an autosomal recessive, severe form characterized by bullous lesions appearing at birth, and extensive denudation of skin and mucous membranes that may be hemorrhagic. Death occurs usually within the first six months of life. Occasionally, children survive to teens. {ECO:0000269|PubMed:7550237}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa, junctional 1A, intermediate (JEB1A) [MIM:226650]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1A is an autosomal recessive, non-lethal, adult form characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269|PubMed:17476356, ECO:0000269|PubMed:9767254}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Amelogenesis imperfecta 1A (AI1A) [MIM:104530]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discolored, sensitive or prone to disintegration. {ECO:0000269|PubMed:23632796, ECO:0000269|PubMed:23958762}. 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.
uniprot
proteins
mass_dalton
129572
uniprot
proteins
pubmed
11296269
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17476356
uniprot
proteins
pubmed
19275936
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23632796
uniprot
proteins
pubmed
23958762
uniprot
proteins
pubmed
7512558
uniprot
proteins
pubmed
7550237
uniprot
proteins
pubmed
7774918
uniprot
proteins
pubmed
8530036
uniprot
proteins
pubmed
9767254
uniprot
proteins
sequence_length
1172
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
uniprot
proteins