Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	284217
Gene name	Laminin subunit alpha 1
Gene symbol	LAMA1
Synonyms (NCBI Gene)	LAMAPTBHSS-LAM-alpha
Chromosome	18
Chromosome location	18p11.31
Summary	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

Show/Hide all (35)

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
rs200996196	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374851540	G>A	Pathogenic	Coding sequence variant, stop gained
rs376548651	G>A	Pathogenic	Coding sequence variant, stop gained
rs542213899	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs587777677	A>C	Pathogenic	Splice donor variant
rs587777679	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777680	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777681	A>C	Pathogenic	Stop gained, coding sequence variant
rs752872595	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs754361205	TGTGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs758601967	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs764398676	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs767889331	G>A,C,T	Pathogenic	Missense variant, synonymous variant, stop gained, coding sequence variant
rs797044940	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs797045182	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045184	C>G	Pathogenic	Intron variant
rs898673491	C>T	Likely-pathogenic	Intron variant
rs1057517756	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064793632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795464	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1131691789	G>-	Pathogenic	Stop gained, coding sequence variant
rs1178073729	G>A	Pathogenic	Stop gained, coding sequence variant
rs1178467103	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1236564978	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555640521	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555654766	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555656402	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555658551	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1568019012	G>A	Pathogenic	Stop gained, coding sequence variant
rs1598328279	CT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (4)

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

Show/Hide all (4)

Transcription factor	Regulation	Reference
KLF4	Activation	17141338
KLF6	Activation	17141338
SP1	Unknown	17141338
SP3	Unknown	17141338

Show/Hide all (41)

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	IEA
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005515	Function	Protein binding	IPI	16677310, 17166913
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 10964500
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005606	Component	Laminin-1 complex	IDA	8601594
GO:0005606	Component	Laminin-1 complex	IEA
GO:0005606	Component	Laminin-1 complex	IPI	10964500
GO:0005608	Component	Laminin-3 complex	IPI	10964500
GO:0005615	Component	Extracellular space	IDA	10964500
GO:0005911	Component	Cell-cell junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	ISS
GO:0009888	Process	Tissue development	IEA
GO:0016020	Component	Membrane	IDA	16677310
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	23658023
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0031175	Process	Neuron projection development	IEA
GO:0043208	Function	Glycosphingolipid binding	IEA
GO:0043256	Component	Laminin complex	IEA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IEA
GO:0098637	Component	Protein complex involved in cell-matrix adhesion	NAS	3109910
GO:0110011	Process	Regulation of basement membrane organization	NAS	2119632
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	NAS	23948589

MIM	HGNC	e!Ensembl
150320	6481	ENSG00000101680

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
LSHREPKELDPIVTRRYYYSIKDISVGGMCICYGHASSCPWDETTKKLQCQCEHNTCGES
CNRCCPGYHQQPWRPGTVSSGNTCEACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGV
CINCLQNTMGINCETCIDGYYRPHKVSPYEDEPCRPCNCDPVGSLSSVCIKDDLHSDLHN
GKQPGQCPCKEGYTGEKCDRCQLGYKDYPTCVSCGCNPVGSASDEPCTGPCVCKENVEGK
ACDRCKPGFYNLKEKNPRGCSECFCFGVSDVCSSLSWPVGQVNSMSGWLVTDLISPRKIP
SQQDALGGRHQVSINNTAVMQRLAPKYYWAAPEAYLGNKLTAFGGFLKYTVSYDIPVETV
DSNLMSHADVIIKGNGLTLSTQAEGLSLQPYEEYLNVVRLVPENFQDFHSKRQIDRDQLM
TVLANVTHLLIRANYNSAKMALYRLESVSLDIASSNAIDLVVAADVEHCECPQGYTGTSC
ESCLSGYYRVDGILFGGICQPCECHGHAAECNVHGVCIACAHNTTGVHCEQCLPGFYGEP
SRGTPGDCQPCACPLTIASNNFSPTCHLNDGDEVVCDWCAPGYSGAWCERCADGYYGNPT
VPGESCVPCDCSGNVDPSEAGHCDSVTGECLKCLGNTDGAHCERCADGFYGDAVTAKNCR
ACECHVKGSHSAVCHLETGLCDCKPNVTGQQCDQCLHGYYGLDSGHGCRPCNCSVAGSVS
DGCTDEGQCHCVPGVAGKRCDRCAHGFYAYQDGSCTPCDCPHTQNTCDPETGECVCPPHT
QGVKCEECEDGHWGYDAEVGCQACNCSLVGSTHHRCDVVTGHCQCKSKFGGRACDQCSLG
YRDFPDCVPCDCDLRGTSGDACNLEQGLCGCVEETGACPCKENVFGPQCNECREGTFALR
ADNPLGCSPCFCSGLSHLCSELEDYVRTPVTLGSDQPLLRVVSQSNLRGTTEGVYYQAPD
FLLDAATVRQHIRAEPFYWRLPQQFQGDQLMAYGGKLKYSVAFYSLDGVGTSNFEPQVLI
KGGRIRKQVIYMDAPAPENGVRQEQEVAMRENFWKYFNSVSEKPVTREDFMSVLSDIEYI
LIKASYGQGLQQSRISDISMEVGRKAEKLHPEEEVASLLENCVCPPGTVGFSCQDCAPGY
HRGKLPAGSDRGPRPLVAPCVPCSCNNHSDTCDPNTGKCLNCGDNTAGDHCDVCTSGYYG
KVTGSASDCALCACPHSPPASFSPTCVLEGDHDFRCDACLLGYEGKHCERCSSSYYGNPQ
TPGGSCQKCDCNPHGSVHGDCDRTSGQCVCRLGASGLRCDECEPRHILMETDCVSCDDEC
VGVLLNDLDEIGDAVLSLNLTGIIPVPYGILSNLENTTKYLQESLLKENMQKDLGKIKLE
GVAEETDNLQKKLTRMLASTQKVNRATERIFKESQDLAIAIERLQMSITEIMEKTTLNQT
LDEDFLLPNSTLQNMQQNGTSLLEIMQIRDFTQLHQNATLELKAAEDLLSQIQENYQKPL
EELEVLKEAASHVLSKHNNELKAAEALVREAEAKMQESNHLLLMVNANLREFSDKKLHVQ
EEQNLTSELIVQGRGLIDAAAAQTDAVQDALEHLEDHQDKLLLWSAKIRHHIDDLVMHMS
QRNAVDLVYRAEDHAAEFQRLADVLYSGLENIRNVSLNATSAAYVHYNIQSLIEESEELA
RDAHRTVTETSLLSESLVSNGKAAVQRSSRFLKEGNNLSRKLPGIALELSELRNKTNRFQ
ENAVEITRQTNESLLILRAIPKGIRDKGAKTKELATSASQSAVSTLRDVAGLSQELLNTS
ASLSRVNTTLRETHQLLQDSTMATLLAGRKVKDVEIQANLLFDRLKPLKMLEENLSRNLS
EIKLLISQARKQAASIKVAVSADRDCIRAYQPQISSTNYNTLTLNVKTQEPDNLLFYLGS
STASDFLAVEMRRGRVAFLWDLGSGSTRLEFPDFPIDDNRWHSIHVARFGNIGSLSVKEM
SSNQKSPTKTSKSPGTANVLDVNNSTLMFVGGLGGQIKKSPAVKVTHFKGCLGEAFLNGK
SIGLWNYIEREGKCRGCFGSSQNEDPSFHFDGSGYSVVEKSLPATVTQIIMLFNTFSPNG
LLLYLGSYGTKDFLSIELFRGRVKVMTDLGSGPITLLTDRRYNNGTWYKIAFQRNRKQGV
LAVIDAYNTSNKETKQGETPGASSDLNRLDKDPIYVGGLPRSRVVRRGVTTKSFVGCIKN
LEISRSTFDLLRNSYGVRKGCLLEPIRSVSFLKGGYIELPPKSLSPESEWLVTFATTNSS
GIILAALGGDVEKRGDREEAHVPFFSVMLIGGNIEVHVNPGDGTGLRKALLHAPTGTCSD
GQAHSISLVRNRRIITVQLDENNPVEMKLGTLVESRTINVSNLYVGGIPEGEGTSLLTMR
RSFHGCIKNLIFNLELLDFNSAVGHEQVDLDTCWLSERPKLAPDAEDSKLLPEPRAFPEQ
CVVDAALEYVPGAHQFGLTQNSHFILPFNQSAVRKKLSVELSIRTFASSGLIYYMAHQNQ
ADYAVLQLHGGRLHFMFDLGKGRTKVSHPALLSDGKWHTVKTDYVKRKGFITVDGRESPM
VTVVGDGTMLDVEGLFYLGGLPSQYQARKIGNITHSIPACIGDVTVNSKQLDKDSPVSAF
TVNRCYAVAQEGTYFDGSGYAALVKEGYKVQSDVNITLEFRTSSQNGVLLGISTAKVDAI
GLELVDGKVLFHVNNGAGRITAAYEPKTATVLCDGKWHTLQANKSKHRITLIVDGNAVGA
ESPHTQSTSVDTNNPIYVGGYPAGVKQKCLRSQTSFRGCLRKLALIKSPQVQSFDFSRAF
ELHGVFLHSCPGTES

Sequence length

3075

Interactions

View interactions

	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

294

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Pathogenic; Likely pathogenic	rs2144180003, rs758223206, rs2143969631, rs776769192, rs2144202430, rs764581574, rs2143782472, rs2144126463, rs1457194859, rs1480105908, rs2144143962, rs2144036802, rs587777677, rs587777678, rs587777679 View all (37 more)	RCV001647166 RCV001647167 RCV001376038 RCV004783967 RCV001421030 RCV001421031 RCV001421032 RCV001421035 RCV001421036 RCV003339722 RCV001783521 RCV001783523 RCV000133604 RCV000133605 RCV000133606 RCV000133607 RCV000133608 RCV002211033 RCV002211034 RCV002269815 RCV002289215 RCV002290345 RCV002308633 RCV002468877 RCV002468878 RCV002471465 RCV000191927 RCV000191931 RCV002790026 RCV003154309 RCV003317663 RCV003236549 RCV003236652 RCV003333672 RCV003586430 RCV003988209 RCV003992651 RCV004527228 RCV005632415 RCV000613599 RCV001421033 RCV000626022 RCV001784188 RCV001421034 RCV000708572 RCV001827145 RCV002222193 RCV002290595 RCV001198465 RCV001199257 RCV001263497 RCV001263560
Familial cancer of breast	Likely pathogenic	rs376011036	RCV005925428
LAMA1-related disorder	Pathogenic	rs2510814794, rs2510089206	RCV003388193 RCV003388194
Lung cancer	Likely pathogenic; Pathogenic	rs764745270	RCV005909290

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs73938538	RCV005920627
Clear cell carcinoma of kidney	Benign	rs28687669	RCV005913447
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2510078698	RCV004557769
Gastric cancer	Likely benign; Uncertain significance	rs377514465, rs767089378	RCV005928314 RCV005934796
Germ cell tumor of testis	Benign	rs12607841	RCV005914335
Glioma susceptibility 1	Conflicting classifications of pathogenicity	rs769174266	RCV005892232
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	rs141914419, rs117225191	RCV005920606 RCV005909471
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign	rs141851670, rs143997842, rs201030108	RCV005626278 RCV005626253 RCV005626255
Malignant lymphoma, large B-cell, diffuse	Benign	rs12607841	RCV005914333
Malignant tumor of esophagus	Uncertain significance	rs138821699	RCV005926428
Melanoma	Benign; Uncertain significance	rs117225191, rs199685044	RCV005909475 RCV005925561
Muscular dystrophy, congenital, merosin deficient or partially deficient	Conflicting classifications of pathogenicity	rs930107993	RCV004527433
Optic atrophy	Conflicting classifications of pathogenicity	rs142286229	RCV004815681
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs201386303, rs376219041, rs142286229, rs149260074, rs376978539, rs2144121334, rs113764106, rs574925348, rs769644598, rs142934543, rs201831309, rs145781920	RCV004815664 RCV004815697 RCV004815680 RCV004816765 RCV004816772 RCV004816782 RCV004818234 RCV004818265 RCV004817722 RCV004817779 RCV004817798 RCV004818121
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs28687669, rs201030108	RCV005913448 RCV005905913
See cases	Conflicting classifications of pathogenicity	rs144278838	RCV002252265
Thymoma	Conflicting classifications of pathogenicity	rs201030108	RCV005905914
Thyroid cancer, nonmedullary, 1	Benign	rs117225191	RCV005909474
Uterine carcinosarcoma	Benign	rs117225191, rs12607841	RCV005909473 RCV005914334
Uterine corpus endometrial carcinoma	Benign	rs117225191, rs73390534, rs28687669	RCV005909477 RCV005908339 RCV005913449
Uveal melanoma	Benign	rs117225191	RCV005909472

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Colorectal Neoplasms	Associate	21298349, 23975090, 35202405
Cysts	Associate	25105227, 26932191
Developmental Disabilities	Associate	31088393
Diabetes Mellitus	Associate	16537450
Diabetes Mellitus Type 2	Associate	22693455, 25951451
Genetic Diseases Inborn	Associate	30122583
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35893033
Hirschsprung Disease	Associate	29093530
Intellectual Disability	Associate	31088393
Lupus Erythematosus Systemic	Associate	23039241
Muscle Weakness	Associate	28544784
Myasthenic Syndromes Congenital	Associate	28544784
Myopia	Associate	21541277, 25105227, 27095636, 28544784
Myopia 2	Associate	21541277
Neoplasm Metastasis	Associate	31173190
Neoplasms	Associate	34512203
Neurologic Manifestations	Associate	25953895
Neuromuscular Junction Diseases	Associate	28544784
Obesity	Associate	22693455, 25951451
Obsessive Compulsive Disorder	Associate	27095636
Ovarian Neoplasms	Associate	34512203
Pituitary Neoplasms	Associate	36686480
Renal dysplasia diffuse cystic	Associate	27095636
Renal Insufficiency	Associate	28544784
Retinal Dystrophies	Associate	25105227, 27095636
Rhabdomyosarcoma Alveolar	Associate	37296184
Sex Chromosome Aberrations	Associate	28771244
Sjogren's Syndrome	Associate	15593200
Squamous Cell Carcinoma of Head and Neck	Associate	20237901
Stomach Neoplasms	Associate	8780383
Tics	Associate	27095636, 28544784
Turner Syndrome	Associate	30122583

LAMA1 (laminin subunit alpha 1)