• Gene id: 3909

Gene Summary

• Gene Symbol: LAMA3   Gene   UCSC   Ensembl
• Aliases: BM600, E170, LAMNA, LOCS
• Gene name: laminin subunit alpha 3
• Alternate names: laminin subunit alpha-3, BM600 150kD subunit, LAM3, alpha-3 subunit, epiligrin 170 kda subunit, epiligrin alpha 3 subunit, kalinin 165kD subunit, kalinin subunit alpha, laminin 5, alpha-3 subunit, laminin A3, laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM60,
• Gene location: 18q11.2 (23689442: 23956221)     Exons: 78     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation an
• OMIM: 608528

Protein Summary

• Protein general information: Q16787  
  • Name: Laminin subunit alpha 3 (Epiligrin 170 kDa subunit) (E170) (Epiligrin subunit alpha) (Kalinin subunit alpha) (Laminin 5 subunit alpha) (Laminin 6 subunit alpha) (Laminin 7 subunit alpha) (Nicein subunit alpha)
  • Length: 3333  
  • Mass: 366649
  • Tissue specificity: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that migrates into a wound bed. A different
• Sequence:

  MAAAARPRGRALGPVLPPTPLLLLVLRVLPACGATARDPGAAAGLSLHPTYFNLAEAARIWATATCGERGPGEGR
  PQPELYCKLVGGPTAPGSGHTIQGQFCDYCNSEDPRKAHPVTNAIDGSERWWQSPPLSSGTQYNRVNLTLDLGQL
  FHVAYILIKFANSPRPDLWVLERSVDFGSTYSPWQYFAHSKVDCLKEFGREANMAVTRDDDVLCVTEYSRIVPLE
  NGEVVVSLINGRPGAKNFTFSHTLREFTKATNIRLRFLRTNTLLGHLISKAQRDPTVTRRYYYSIKDISIGGQCV
  CNGHAEVCNINNPEKLFRCECQHHTCGETCDRCCTGYNQRRWRPAAWEQSHECEACNCHGHASNCYYDPDVERQQ
  ASLNTQGIYAGGGVCINCQHNTAGVNCEQCAKGYYRPYGVPVDAPDGCIPCSCDPEHADGCEQGSGRCHCKPNFH
  GDNCEKCAIGYYNFPFCLRIPIFPVSTPSSEDPVAGDIKGCDCNLEGVLPEICDAHGRCLCRPGVEGPRCDTCRS
  GFYSFPICQACWCSALGSYQMPCSSVTGQCECRPGVTGQRCDRCLSGAYDFPHCQGSSSACDPAGTINSNLGYCQ
  CKLHVEGPTCSRCKLLYWNLDKENPSGCSECKCHKAGTVSGTGECRQGDGDCHCKSHVGGDSCDTCEDGYFALEK
  SNYFGCQGCQCDIGGALSSMCSGPSGVCQCREHVVGKVCQRPENNYYFPDLHHMKYEIEDGSTPNGRDLRFGFDP
  LAFPEFSWRGYAQMTSVQNDVRITLNVGKSSGSLFRVILRYVNPGTEAVSGHITIYPSWGAAQSKEIIFLPSKEP
  AFVTVPGNGFADPFSITPGIWVACIKAEGVLLDYLVLLPRDYYEASVLQLPVTEPCAYAGPPQENCLLYQHLPVT
  RFPCTLACEARHFLLDGEPRPVAVRQPTPAHPVMVDLSGREVELHLRLRIPQVGHYVVVVEYSTEAAQLFVVDVN
  VKSSGSVLAGQVNIYSCNYSVLCRSAVIDHMSRIAMYELLADADIQLKGHMARFLLHQVCIIPIEEFSAEYVRPQ
  VHCIASYGRFVNQSATCVSLAHETPPTALILDVLSGRPFPHLPQQSSPSVDVLPGVTLKAPQNQVTLRGRVPHLG
  RYVFVIHFYQAAHPTFPAQVSVDGGWPRAGSFHASFCPHVLGCRDQVIAEGQIEFDISEPEVAATVKVPEGKSLV
  LVRVLVVPAENYDYQILHKKSMDKSLEFITNCGKNSFYLDPQTASRFCKNSARSLVAFYHKGALPCECHPTGATG
  PHCSPEGGQCPCQPNVIGRQCTRCATGHYGFPRCKPCSCGRRLCEEMTGQCRCPPRTVRPQCEVCETHSFSFHPM
  AGCEGCNCSRRGTIEAAMPECDRDSGQCRCKPRITGRQCDRCASGFYRFPECVPCNCNRDGTEPGVCDPGTGACL
  CKENVEGTECNVCREGSFHLDPANLKGCTSCFCFGVNNQCHSSHKRRTKFVDMLGWHLETADRVDIPVSFNPGSN
  SMVADLQELPATIHSASWVAPTSYLGDKVSSYGGYLTYQAKSFGLPGDMVLLEKKPDVQLTGQHMSIIYEETNTP
  RPDRLHHGRVHVVEGNFRHASSRAPVSREELMTVLSRLADVRIQGLYFTETQRLTLSEVGLEEASDTGSGRIALA
  VEICACPPAYAGDSCQGCSPGYYRDHKGLYTGRCVPCNCNGHSNQCQDGSGICVNCQHNTAGEHCERCQEGYYGN
  AVHGSCRACPCPHTNSFATGCVVNGGDVRCSCKAGYTGTQCERCAPGYFGNPQKFGGSCQPCSCNSNGQLGSCHP
  LTGDCINQEPKDSSPAEECDDCDSCVMTLLNDLATMGEQLRLVKSQLQGLSASAGLLEQMRHMETQAKDLRNQLL
  NYRSAISNHGSKIEGLERELTDLNQEFETLQEKAQVNSRKAQTLNNNVNRATQSAKELDVKIKNVIRNVHILLKQ
  ISGTDGEGNNVPSGDFSREWAEAQRMMRELRNRNFGKHLREAEADKRESQLLLNRIRTWQKTHQGENNGLANSIR
  DSLNEYEAKLSDLRARLQEAAAQAKQANGLNQENERALGAIQRQVKEINSLQSDFTKYLTTADSSLLQTNIALQL
  MEKSQKEYEKLAASLNEARQELSDKVRELSRSAGKTSLVEEAEKHARSLQELAKQLEEIKRNASGDELVRCAVDA
  ATAYENILNAIKAAEDAANRAASASESALQTVIKEDLPRKAKTLSSNSDKLLNEAKMTQKKLKQEVSPALNNLQQ
  TLNIVTVQKEVIDTNLTTLRDGLHGIQRGDIDAMISSAKSMVRKANDITDEVLDGLNPIQTDVERIKDTYGRTQN
  EDFKKALTDADNSVNKLTNKLPDLWRKIESINQQLLPLGNISDNMDRIRELIQQARDAASKVAVPMRFNGKSGVE
  VRLPNDLEDLKGYTSLSLFLQRPNSRENGGTENMFVMYLGNKDASRDYIGMAVVDGQLTCVYNLGDREAELQVDQ
  ILTKSETKEAVMDRVKFQRIYQFARLNYTKGATSSKPETPGVYDMDGRNSNTLLNLDPENVVFYVGGYPPDFKLP
  SRLSFPPYKGCIELDDLNENVLSLYNFKKTFNLNTTEVEPCRRRKEESDKNYFEGTGYARVPTQPHAPIPTFGQT
  IQTTVDRGLLFFAENGDRFISLNIEDGKLMVRYKLNSELPKERGVGDAINNGRDHSIQIKIGKLQKRMWINVDVQ
  NTIIDGEVFDFSTYYLGGIPIAIRERFNISTPAFRGCMKNLKKTSGVVRLNDTVGVTKKCSEDWKLVRSASFSRG
  GQLSFTDLGLPPTDHLQASFGFQTFQPSGILLDHQTWTRNLQVTLEDGYIELSTSDSGSPIFKSPQTYMDGLLHY
  VSVISDNSGLRLLIDDQLLRNSKRLKHISSSRQSLRLGGSNFEGCISNVFVQRLSLSPEVLDLTSNSLKRDVSLG
  GCSLNKPPFLMLLKGSTRFNKTKTFRINQLLQDTPVASPRSVKVWQDACSPLPKTQANHGALQFGDIPTSHLLFK
  LPQELLKPRSQFAVDMQTTSSRGLVFHTGTKNSFMALYLSKGRLVFALGTDGKKLRIKSKEKCNDGKWHTVVFGH
  DGEKGRLVVDGLRAREGSLPGNSTISIRAPVYLGSPPSGKPKSLPTNSFVGCLKNFQLDSKPLYTPSSSFGVSSC
  LGGPLEKGIYFSEEGGHVVLAHSVLLGPEFKLVFSIRPRSLTGILIHIGSQPGKHLCVYLEAGKVTASMDSGAGG
  TSTSVTPKQSLCDGQWHSVAVTIKQHILHLELDTDSSYTAGQIPFPPASTQEPLHLGGAPANLTTLRIPVWKSFF
  GCLRNIHVNHIPVPVTEALEVQGPVSLNGCPDQ

• Structural information:
  • Protein Domains: (43..29-)
    (/note="Laminin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00466-)
    (299..35-)
    1 (/note="Laminin-EGF-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00460-)
    (356..42-)
    2 (/note="Laminin-EGF-like)
    (/evidence="ECO:-)
  • Interpro: IPR013320  IPR013032  IPR000742  IPR009254  IPR010307   IPR002049  IPR001791  IPR000034  IPR008211  IPR038684  
  • Prosite: PS00022 PS01186 PS01248 PS50027 PS50025 PS51115 PS51117
  • STRING: ENSP00000324532
• Other Databases: GeneCards:  LAMA3  Malacards:  LAMA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001738	morphogenesis of a polarized epithelium	IBA	biological process
GO:0005610	laminin-5 complex	IBA	cellular component
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0005178	integrin binding	IBA	molecular function
GO:0009888	tissue development	IBA	biological process
GO:0030155	regulation of cell adhesion	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0045995	regulation of embryonic development	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005604	basement membrane	TAS	cellular component
GO:0008544	epidermis development	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031581	hemidesmosome assembly	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005610	laminin-5 complex	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04512	ECM-receptor interaction
hsa05145	Toxoplasmosis
hsa05222	Small cell lung cancer
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Epidermolysis bullosa	KEGG:H00586
Laryngo onycho cutaneous syndrome	KEGG:H00813
Epidermolysis bullosa	KEGG:H00586
Laryngo onycho cutaneous syndrome	KEGG:H00813
Junctional epidermolysis bullosa	PMID:8586427
lung small cell carcinoma	PMID:12855645
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq