Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284217
Gene name Gene Name - the full gene name approved by the HGNC.
Laminin subunit alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAMA1
Synonyms (NCBI Gene) Gene synonyms aliases
LAMA, PTBHS, S-LAM-alpha
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PTBHS
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the ba
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs117433399 T>C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs143997842 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs144738522 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs146148365 A>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs150849018 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022954 hsa-miR-124-3p Microarray 18668037
MIRT1103228 hsa-miR-371b-5p CLIP-seq
MIRT1103229 hsa-miR-4279 CLIP-seq
MIRT1103230 hsa-miR-4698 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
KLF4 Activation 17141338
KLF6 Activation 17141338
SP1 Unknown 17141338
SP3 Unknown 17141338
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002011 Process Morphogenesis of an epithelial sheet IEA
GO:0005102 Function Signaling receptor binding IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005515 Function Protein binding IPI 17166913
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
150320 6481 ENSG00000101680
Protein
UniProt ID P25391
Protein name Laminin subunit alpha-1 (Laminin A chain) (Laminin-1 subunit alpha) (Laminin-3 subunit alpha) (S-laminin subunit alpha) (S-LAM alpha)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00055 Laminin_N 22 268 Laminin N-terminal (Domain VI) Family
PF00053 Laminin_EGF 270 324 Laminin EGF domain Domain
PF00053 Laminin_EGF 327 394 Laminin EGF domain Domain
PF00053 Laminin_EGF 397 453 Laminin EGF domain Domain
PF00053 Laminin_EGF 454 500 Laminin EGF domain Domain
PF00052 Laminin_B 568 707 Laminin B (Domain IV) Family
PF00053 Laminin_EGF 704 733 Laminin EGF domain Domain
PF00053 Laminin_EGF 742 788 Laminin EGF domain Domain
PF00053 Laminin_EGF 791 846 Laminin EGF domain Domain
PF00053 Laminin_EGF 849 899 Laminin EGF domain Domain
PF00053 Laminin_EGF 902 948 Laminin EGF domain Domain
PF00053 Laminin_EGF 951 996 Laminin EGF domain Domain
PF00053 Laminin_EGF 998 1041 Laminin EGF domain Domain
PF00053 Laminin_EGF 1044 1089 Laminin EGF domain Domain
PF00053 Laminin_EGF 1090 1147 Laminin EGF domain Domain
PF00052 Laminin_B 1218 1359 Laminin B (Domain IV) Family
PF00053 Laminin_EGF 1358 1390 Laminin EGF domain Domain
PF00053 Laminin_EGF 1403 1449 Laminin EGF domain Domain
PF00053 Laminin_EGF 1452 1506 Laminin EGF domain Domain
PF00053 Laminin_EGF 1509 1560 Laminin EGF domain Domain
PF06008 Laminin_I 1575 1831 Laminin Domain I Coiled-coil
PF06009 Laminin_II 2011 2145 Laminin Domain II Coiled-coil
PF00054 Laminin_G_1 2146 2283 Laminin G domain Domain
PF00054 Laminin_G_1 2333 2469 Laminin G domain Domain
PF00054 Laminin_G_1 2514 2658 Laminin G domain Domain
PF00054 Laminin_G_1 2743 2872 Laminin G domain Domain
PF00054 Laminin_G_1 2920 3051 Laminin G domain Domain
Sequence
MRGGVLLVLLLCVAAQCRQRGLFPAILNLASNAHISTNATCGEKGPEMFCKLVEHVPGRP
VRNPQCRICDGNSANPRERHPISHAIDGTNNWWQSPSIQNGREYHWVTITLDLRQVFQVA
YVIIKAANAPRPGNWILERSLDGTTFSPWQYYAVSDSECLSRYNITPRRGPPTYRADDEV
ICTSYYSRLVPLEHGEIHTSLINGRPSADDLSPKLLEFTSARYIRLRLQRIRTLNADLMT
LSHREPKELDPIVTRRYYYSIKDISVGG
MCICYGHASSCPWDETTKKLQCQCEHNTCGES
CNRCCPGYHQQPWRPGTVSSGNTC
EACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGV
CINCLQNTMGINCETCIDGYYRPHKVSPYEDEPC
RPCNCDPVGSLSSVCIKDDLHSDLHN
GKQPGQCPCKEGYTGEKCDRCQLGYKDYPTCVS
CGCNPVGSASDEPCTGPCVCKENVEGK
ACDRCKPGFYNLKEKNPRGC
SECFCFGVSDVCSSLSWPVGQVNSMSGWLVTDLISPRKIP
SQQDALGGRHQVSINNTAVMQRLAPKYYWAAPEAYLGNKLTAFGGFLKYTVSYDIPVETV
DSNLMSHADVIIKGNGLTLSTQAEGLSLQPYEEYLNVVRLVPENFQDFHSKRQIDRDQLM
TVLANVTHLLIRANYNSAKMALYRLESVSLDIASSNAIDLVVA
ADVEHCECPQGYTGTSC
ESCLSGYYRVDGI
LFGGICQPCECHGHAAECNVHGVCIACAHNTTGVHCEQCLPGFYGEP
SRGTPGDC
QPCACPLTIASNNFSPTCHLNDGDEVVCDWCAPGYSGAWCERCADGYYGNPT
VPGESC
VPCDCSGNVDPSEAGHCDSVTGECLKCLGNTDGAHCERCADGFYGDAVTAKNCR
ACECHVKGSHSAVCHLETGLCDCKPNVTGQQCDQCLHGYYGLDSGHGCRPCNCSVAGSVS
DGCTDEGQCHCVPGVAGKRCDRCAHGFYAYQDGSCT
PCDCPHTQNTCDPETGECVCPPHT
QGVKCEECEDGHWGYDAEVGC
QACNCSLVGSTHHRCDVVTGHCQCKSKFGGRACDQCSLG
YRDFPDCVP
CDCDLRGTSGDACNLEQGLCGCVEETGACPCKENVFGPQCNECREGTFALR
ADNPLGC
SPCFCSGLSHLCSELEDYVRTPVTLGSDQPLLRVVSQSNLRGTTEGVYYQAPD
FLLDAATVRQHIRAEPFYWRLPQQFQGDQLMAYGGKLKYSVAFYSLDGVGTSNFEPQVLI
KGGRIRKQVIYMDAPAPENGVRQEQEVAMRENFWKYFNSVSEKPVTREDFMSVLSDIEYI
LIKASYGQGLQQSRISDISMEVGRKAEKLHPEEEVAS
LLENCVCPPGTVGFSCQDCAPGY
HRGKLPAGSD
RGPRPLVAPCVPCSCNNHSDTCDPNTGKCLNCGDNTAGDHCDVCTSGYYG
KVTGSASDC
ALCACPHSPPASFSPTCVLEGDHDFRCDACLLGYEGKHCERCSSSYYGNPQ
TPGGSC
QKCDCNPHGSVHGDCDRTSGQCVCRLGASGLRCDECEPRHILMETDCVSCDDEC
VGVLLNDLDEIGDAVLSLNLTGIIPVPYGILSNLENTTKYLQESLLKENMQKDLGKIKLE
GVAEETDNLQKKLTRMLASTQKVNRATERIFKESQDLAIAIERLQMSITEIMEKTTLNQT
LDEDFLLPNSTLQNMQQNGTSLLEIMQIRDFTQLHQNATLELKAAEDLLSQIQENYQKPL
EELEVLKEAASHVLSKHNNELKAAEALVREAEAKMQESNHLLLMVNANLREFSDKKLHVQ
EEQNLTSELIVQGRGLIDAAAAQTDAVQDAL
EHLEDHQDKLLLWSAKIRHHIDDLVMHMS
QRNAVDLVYRAEDHAAEFQRLADVLYSGLENIRNVSLNATSAAYVHYNIQSLIEESEELA
RDAHRTVTETSLLSESLVSNGKAAVQRSSRFLKEGNNLSRKLPGIALELSELRNKTNRFQ
ENAVEITRQTNESLLILRAIPKGIRDKGAKTKELATSASQSAVSTLRDVAGLSQELLNTS
ASLSRVNTTLRETHQLLQDSTMATLLAGRKVKDVEIQANLLFDRLKPLKMLEENLSRNLS
EIKLLISQARKQAASIKVAVSADRDCIRAYQPQISSTNYNTLTLN
VKTQEPDNLLFYLGS
STASDFLAVEMRRGRVAFLWDLGSGSTRLEFPDFPIDDNRWHSIHVARFGNIGSLSVKEM
SSNQKSPTKTSKSPGTANVLDVNNSTLMFVGGLGGQIKKSPAVKVTHFKGCLGEAFLNGK
SIG
LWNYIEREGKCRGCFGSSQNEDPSFHFDGSGYSVVEKSLPATVTQIIMLFNTFSPNG
LLLYLGSYGTKDFLSIELFRGRVKVMTDLGSGPITLLTDRRYNNGTWYKIAFQRNRKQGV
LAVIDAYNTSNKETKQGETPGASSDLNRLDKDPIYVGGLPRSRVVRRGVTTKSFVGCIKN
LEISRSTFD
LLRNSYGVRKGCLLEPIRSVSFLKGGYIELPPKSLSPESEWLVTFATTNSS
GIILAALGGDVEKRGDREEAHVPFFSVMLIGGNIEVHVNPGDGTGLRKALLHAPTGTCSD
GQAHSISLVRNRRIITVQLDENNPVEMKLGTLVESRTINVSNLYVGGIPEGEGTSLLTMR
RSFHGCIKNLIFNLELLD
FNSAVGHEQVDLDTCWLSERPKLAPDAEDSKLLPEPRAFPEQ
CVVDAALEYVPGAHQFGLTQNSHFILPFNQSAVRKKLSVELSIRTFASSGLIYYMAHQNQ
ADYAVLQLHGGRLHFMFDLGKGRTKVSHPALLSDGKWHTVKTDYVKRKGFITVDGRESPM
VTVVGDGTMLDVEGLFYLGGLPSQYQARKIGNITHSIPACIGDVTVNSKQLD
KDSPVSAF
TVNRCYAVAQEGTYFDGSGYAALVKEGYKVQSDVNITLEFRTSSQNGVLLGISTAKVDAI
GLELVDGKVLFHVNNGAGRITAAYEPKTATVLCDGKWHTLQANKSKHRITLIVDGNAVGA
ESPHTQSTSVDTNNPIYVGGYPAGVKQKCLRSQTSFRGCLRKLALIKSPQV
QSFDFSRAF
ELHGVFLHSCPGTES
Sequence length 3075
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
  Laminin interactions
MET activates PTK2 signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
26830138
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
22843504
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
21278247
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 25105227, 26932191, 37131188
Alzheimer Disease Associate 25668194, 33372590, 39284855
Anxiety Associate 27095636
Atrial Fibrillation Associate 37967346
Autistic Disorder Associate 24204716
Breast Neoplasms Associate 33500458
Carcinoma Adenoid Cystic Associate 17591960
Cerebellar Diseases Associate 25105227, 27095636
Cholangiocarcinoma Associate 35070505
Chromosome 18p deletion syndrome Associate 30122583