LAMB1 (laminin subunit beta 1)

Gene

• Entrez ID: 3912
• Gene name: Laminin subunit beta 1
• Gene symbol: LAMB1
• Synonyms (NCBI Gene): CLM, LIS5
• Chromosome: 7
• Chromosome location: 7q31.1
• Summary: Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140146478	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs149204722	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs387907343	TGACCAGTGGCTTT>ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG	Pathogenic	Non coding transcript variant, coding sequence variant, inframe indel, stop gained
rs387907344	C>A	Pathogenic	Splice donor variant
rs780369106	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs879255266	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255267	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1352532055	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554402678	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1554406255	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554406824	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554411026	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019028	hsa-miR-335-5p	Microarray	18185580
MIRT032050	hsa-miR-16-5p	Proteomics	18668040
MIRT045771	hsa-miR-125a-5p	CLASH	23622248
MIRT041314	hsa-miR-193b-3p	CLASH	23622248
MIRT041153	hsa-miR-500a-3p	CLASH	23622248
MIRT036727	hsa-miR-760	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
NANOG	Repression	15983365
SSB	Activation	21896617

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	IEA
GO:0005198	Function	Structural molecule activity	NAS	1975589, 10842354
GO:0005201	Function	Extracellular matrix structural constituent	IDA	16289578
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 27559042, 28675934
GO:0005515	Function	Protein binding	IPI	26438063, 28514442, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005604	Component	Basement membrane	TAS	3493487
GO:0005606	Component	Laminin-1 complex	IDA	16289578
GO:0005606	Component	Laminin-1 complex	IEA
GO:0005606	Component	Laminin-1 complex	IPI	10964500
GO:0005606	Component	Laminin-1 complex	TAS	14557481
GO:0005607	Component	Laminin-2 complex	IDA	16289578
GO:0005607	Component	Laminin-2 complex	TAS	15894315
GO:0005615	Component	Extracellular space	IDA	10964500
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	14557481
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007566	Process	Embryo implantation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0016477	Process	Cell migration	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0021812	Process	Neuronal-glial interaction involved in cerebral cortex radial glia guided migration	IMP	23472759
GO:0030335	Process	Positive regulation of cell migration	IDA	16289578
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27068509, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031175	Process	Neuron projection development	IDA	15894315
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IDA	16236823
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0042476	Process	Odontogenesis	IDA	15894315
GO:0043208	Function	Glycosphingolipid binding	IEA
GO:0043256	Component	Laminin complex	IEA
GO:0043257	Component	Laminin-8 complex	IDA	16289578
GO:0043257	Component	Laminin-8 complex	TAS	15894315
GO:0043259	Component	Laminin-10 complex	IDA	10964500, 16289578
GO:0043259	Component	Laminin-10 complex	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	TAS	14557481
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0070062	Component	Extracellular exosome	HDA	21362503
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

Other IDs

• MIM: 150240
• HGNC: 6486
• e!Ensembl: ENSG00000091136

Protein

• UniProt ID: P07942
• Protein name: Laminin subunit beta-1 (Laminin B1 chain) (Laminin-1 subunit beta) (Laminin-10 subunit beta) (Laminin-12 subunit beta) (Laminin-2 subunit beta) (Laminin-6 subunit beta) (Laminin-8 subunit beta)
• 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. Involved in the
• PDB: 5XAU, 7CEC, 8DMK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	35 → 269	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	271 → 332	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	335 → 395	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	398 → 455	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	458 → 507	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	510 → 555	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	773 → 818	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	821 → 866	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	867 → 914	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	917 → 973	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	976 → 1025	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1028 → 1081	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1084 → 1131	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1132 → 1182	Laminin EGF domain	Domain

• Sequence:

  MGLLQLLAFSFLALCRARVRAQEPEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHK
  PEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQSENGVEN
  VTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTG
  PMKKVDDIICDSRYSDIEPSTEGEVIFRALDPAFKIEDPYSPRIQNLLKITNLRIKFVKL
  HTLGDNLLDSRMEIREKYYYAVYDMVVRGNCFCYGHASECAPVDGFNEEVEGMVHGHCMC
  RHNTKGLNCELCMDFYHDLPWRPAEGRNSNACKKCNCNEHSISCHFDMAVYLATGNVSGG
  VCDDCQHNTMGRNCEQCKPFYYQHPERDIRDPNFCERCTCDPAGSQNEGICDSYTDFSTG
  LIAGQCRCKLNVEGEHCDVCKEGFYDLSSEDPFGCKSCACNPLGTIPGGNPCDSETGHCY
  CKRLVTGQHCDQCLPEHWGLSNDLDGCRPCDCDLGGALNNSCFAESGQCSCRPHMIGRQC
  NEVEPGYYFATLDHYLYEAEEANLGPGVSIVERQYIQDRIPSWTGAGFVRVPEGAYLEFF
  IDNIPYSMEYDILIRYEPQLPDHWEKAVITVQRPGRIPTSSRCGNTIPDDDNQVVSLSPG
  SRYVVLPRPVCFEKGTNYTVRLELPQYTSSDSDVESPYTLIDSLVLMPYCKSLDIFTVGG
  SGDGVVTNSAWETFQRYRCLENSRSVVKTPMTDVCRNIIFSISALLHQTGLACECDPQGS
  LSSVCDPNGGQCQCRPNVVGRTCNRCAPGTFGFGPSGCKPCECHLQGSVNAFCNPVTGQC
  HCFQGVYARQCDRCLPGHWGFPSCQPCQCNGHADDCDPVTGECLNCQDYTMGHNCERCLA
  GYYGDPIIGSGDHCRPCPCPDGPDSGRQFARSCYQDPVTLQLACVCDPGYIGSRCDDCAS
  GYFGNPSEVGGSCQPCQCHNNIDTTDPEACDKETGRCLKCLYHTEGEHCQFCRFGYYGDA
  LQQDCRKCVCNYLGTVQEHCNGSDCQCDKATGQCLCLPNVIGQNCDRCAPNTWQLASGTG
  CDPCNCNAAHSFGPSCNEFTGQCQCMPGFGGRTCSECQELFWGDPDVECRACDCDPRGIE
  TPQCDQSTGQCVCVEGVEGPRCDKCTRGYSGVFPDCTPCHQCFALWDVIIAELTNRTHRF
  LEKAKALKISGVIGPYRETVDSVERKVSEIKDILAQSPAAEPLKNIGNLFEEAEKLIKDV
  TEMMAQVEVKLSDTTSQSNSTAKELDSLQTEAESLDNTVKELAEQLEFIKNSDIRGALDS
  ITKYFQMSLEAEERVNASTTEPNSTVEQSALMRDRVEDVMMERESQFKEKQEEQARLLDE
  LAGKLQSLDLSAAAEMTCGTPPGASCSETECGGPNCRTDEGERKCGGPGCGGLVTVAHNA
  WQKAMDLDQDVLSALAEVEQLSKMVSEAKLRADEAKQSAEDILLKTNATKEKMDKSNEEL
  RNLIKQIRNFLTQDSADLDSIEAVANEVLKMEMPSTPQQLQNLTEDIRERVESLSQVEVI
  LQHSAADIARAEMLLEEAKRASKSATDVKVTADMVKEALEEAEKAQVAAEKAIKQADEDI
  QGTQNLLTSIESETAASEETLFNASQRISELERNVEELKRKAAQNSGEAEYIEKVVYTVK
  QSAEDVKKTLDGELDEKYKKVENLIAKKTEESADARRKAEMLQNEAKTLLAQANSKLQLL
  KDLERKYEDNQRYLEDKAQELARLEGEVRSLLKDISQKVAVYSTCL

• Sequence length: 1786

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Laminin interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MET activates PTK2 signaling
Post-translational protein phosphorylation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs142670565	RCV005926977
Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic; Likely pathogenic	rs768323491, rs2150429989, rs2116327253, rs2150428777, rs142670565, rs879255266, rs879255267, rs2535480477, rs2535492696, rs747409509, rs387907343, rs387907344	RCV002479463 RCV001783543 RCV002276508 RCV002276509 RCV003226000 RCV000211028 RCV000210961 RCV003236703 RCV004018274 RCV004577220 RCV000034856 RCV000034857
Intellectual disability	Likely pathogenic	rs1278743247	RCV001261377
LAMB1-related disorder	Likely pathogenic; Pathogenic	rs142670565	RCV004750347

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autism spectrum disorder	association	rs1471515174	RCV001291373
Cervical cancer	Uncertain significance; Benign	rs766051911, rs76420489	RCV005924228 RCV005896710
Cholangiocarcinoma	Benign; Likely benign	rs36063621, rs192349543, rs7797759, rs7777891	RCV005896679 RCV005898851 RCV005905802 RCV005905696
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs79073119	RCV005870655
Clear cell carcinoma of kidney	Benign	rs36063621, rs76420489, rs115436001, rs79073119	RCV005896674 RCV005896711 RCV005898098 RCV005870652
Colon adenocarcinoma	Benign	rs36063621, rs79073119	RCV005896672 RCV005870649
Familial cancer of breast	Benign	rs36063621, rs3213674	RCV005896671 RCV005896466
Familial pancreatic carcinoma	Benign	rs79073119	RCV005870653
Gastric cancer	Benign	rs36063621	RCV005896676
Germ cell tumor of testis	Benign	rs3213674	RCV005896467
Hepatocellular carcinoma	Benign; Likely benign	rs76420489, rs139955747	RCV005896709 RCV005898918
Leukodystrophy	Conflicting classifications of pathogenicity	rs2116300979	RCV006249778
LEUKOENCEPHALOPATHY WITHOUT LACUNAE, ADULT-ONSET	Conflicting classifications of pathogenicity	rs2116300979	RCV006256947
Lung cancer	Benign	rs79073119, rs7777891	RCV005870654 RCV005905697
Malignant tumor of esophagus	-; Benign; Likely benign	rs2116319489, rs36063621, rs192349543, rs7777891	RCV005930235 RCV005896673 RCV005898850 RCV005905693
Malignant tumor of urinary bladder	Uncertain significance	rs747370433	RCV005900408
Multiple sclerosis	Conflicting classifications of pathogenicity	rs140146478	RCV005052804
Nonpapillary renal cell carcinoma	Benign	rs79073119	RCV005870650
Ovarian cancer	Benign	rs79073119	RCV005870651
Ovarian serous cystadenocarcinoma	Benign	rs36063621, rs115436001	RCV005896677 RCV005898100
Sarcoma	Benign	rs36063621, rs76420489, rs115436001, rs7777891	RCV005896675 RCV005896712 RCV005898099 RCV005905694
Thyroid cancer, nonmedullary, 1	Benign	rs36063621, rs76420489	RCV005896678 RCV005896713
Uterine carcinosarcoma	Benign	rs56211440, rs7797759, rs7777891	RCV005911474 RCV005905801 RCV005905695
Uterine corpus endometrial carcinoma	Benign	rs115436001, rs7777891	RCV005898101 RCV005905698

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired ichthyosis	Associate	36303457
Adenocarcinoma of Lung	Associate	32549766, 39312319
Atrial Fibrillation	Associate	37967346
Autistic Disorder	Associate	15128462
Breast Neoplasms	Associate	24505115, 33500458
Carcinoma Basal Cell	Associate	24505115
Cholangiocarcinoma	Associate	39199357
Cobblestone Lissencephaly	Associate	23472759
Colitis Ulcerative	Associate	19915572
Colorectal Neoplasms	Associate	36303457, 38179750
Diabetes Mellitus Type 1	Associate	36303457
Encephalocele	Associate	23472759
Esophageal Squamous Cell Carcinoma	Associate	36290884
Gastritis Atrophic	Associate	37868053
Head and Neck Neoplasms	Associate	35090306
Hydrocephalus	Associate	35843586
Ichthyosis X Linked	Associate	30816547
Infertility	Associate	36303457
Inflammatory Bowel Diseases	Associate	29991969
Lung Neoplasms	Associate	32549766, 8494054
Lymphatic Metastasis	Associate	26150443
Melanoma	Associate	36303457
Neoplasm Metastasis	Associate	15987446, 23958557
Neoplasms	Associate	15987446, 23830872, 27196083, 33435161, 34512203, 36303457, 39312319, 8494054
Ovarian Neoplasms	Associate	34512203
Pancreatic Neoplasms	Stimulate	19373808
Papillomavirus Infections	Associate	35090306
Squamous Cell Carcinoma of Head and Neck	Associate	35358652
Stomach Neoplasms	Stimulate	33435161
Stomach Neoplasms	Associate	33784890, 37868053, 8780383
Uterine Cervical Dysplasia	Associate	19373808
Uterine Cervical Neoplasms	Stimulate	35090306