LAMB1 laminin subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMB1provided by HGNC
Official Full Name: laminin subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:6486
See related: Ensembl:ENSG00000091136 MIM:150240; AllianceGenome:HGNC:6486
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLM; LIS5
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, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]
Expression: Broad expression in placenta (RPKM 75.7), fat (RPKM 65.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q31.1

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (107923799..108003161, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (109241996..109321407, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (107564244..107643606, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.
Title: Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population.
Title: Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population.
RNA Helicase DDX24 Stabilizes LAMB1 to Promote Hepatocellular Carcinoma Progression.
Title: RNA Helicase DDX24 Stabilizes LAMB1 to Promote Hepatocellular Carcinoma Progression.
Lamin B1 is a potential therapeutic target and prognostic biomarker for hepatocellular carcinoma.
Title: Lamin B1 is a potential therapeutic target and prognostic biomarker for hepatocellular carcinoma.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Title: End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
LAMB1 Is Related to the T Stage and Indicates Poor Prognosis in Gastric Cancer.
Title: LAMB1 Is Related to the T Stage and Indicates Poor Prognosis in Gastric Cancer.
Upregulation of LAMB1 via ERK/c-Jun Axis Promotes Gastric Cancer Growth and Motility.
Title: Upregulation of LAMB1 via ERK/c-Jun Axis Promotes Gastric Cancer Growth and Motility.
CRISPR-Cas9-mediated labelling of the C-terminus of human laminin beta1 leads to secretion inhibition.
Title: CRISPR-Cas9-mediated labelling of the C-terminus of human laminin β1 leads to secretion inhibition.
Alterations in the immunoreactivity of laminin, type IV collagen and alpha3beta1 integrin in diabetic rat ovarian follicles.
Title: Alterations in the immunoreactivity of laminin, type IV collagen and α3β1 integrin in diabetic rat ovarian follicles.
LAMB1 identified as Liver Fibrosis-specific gene, was significantly associated with Liver Fibrosis progression and could be combined to discriminate Liver Fibrosis stages regardless of any etiology.
Title: Multitranscriptome analyses reveal prioritized genes specifically associated with liver fibrosis progression independent of etiology.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cobblestone lissencephaly without muscular or ocular involvement MedGen: C3554657 OMIM: 615191 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution	PubMed
	tat	HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1	PubMed
	tat	HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1317194 (e-PCR)
- UniSTS:61198

Gli3 (e-PCR), detects polymorphism
- UniSTS:525612

STS-N30158 (e-PCR)
- UniSTS:42030

D7S2809 (e-PCR)
- UniSTS:41296

RH80344 (e-PCR)
- UniSTS:93016

RH104071 (e-PCR)
- UniSTS:98396

D7S777 (e-PCR)
- UniSTS:58204

RH71457 (e-PCR)
- UniSTS:23138

LAMB1 (e-PCR)
- UniSTS:27494

STS-R09502 (e-PCR)
- UniSTS:81519

SHGC-144048 (e-PCR)
- UniSTS:172146

SHGC-105537 (e-PCR)
- UniSTS:169345

WI-19020 (e-PCR)
- UniSTS:66194

D7S3074 (e-PCR)
- UniSTS:48804

RH80938 (e-PCR)
- UniSTS:90816

G36373 (e-PCR)
- UniSTS:63942

LAMB1 (e-PCR)
- UniSTS:105163

STS-H01470 (e-PCR)
- UniSTS:77518

RH102652 (e-PCR)
- UniSTS:96986

G36368 (e-PCR)
- UniSTS:37598

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in endodermal cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuronal-glial interaction involved in cerebral cortex radial glia guided migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of muscle cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of basement membrane organization	NAS Non-traceable Author Statement more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	NAS Non-traceable Author Statement more info	PubMed
located_in basement membrane	TAS Traceable Author Statement more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-1 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of laminin-1 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-10 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-2 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-8 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-8 complex	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
part_of protein complex involved in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: laminin subunit beta-1

Names: laminin B1 chain; laminin, beta 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023255.1 RefSeqGene

Range

5199..84561

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002291.3 → NP_002282.2 laminin subunit beta-1 precursor

See identical proteins and their annotated locations for NP_002282.2

Status: REVIEWED

Source sequence(s)

AC005046, BC026018, BC113455, DA861108

Consensus CDS

CCDS5750.1

UniProtKB/Swiss-Prot

P07942, Q14D91

UniProtKB/TrEMBL

A0A7I2V4J9

Related

ENSP00000222399.6, ENST00000222399.11

Conserved Domains (8) summary

smart00180
Location:773 → 818

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00055
Location:457 → 508

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00053
Location:821 → 869

Laminin_EGF; Laminin EGF domain

pfam00055
Location:44 → 269

Laminin_N; Laminin N-terminal (Domain VI)

pfam15704
Location:1472 → 1688

Mt_ATP_synt; Mitochondrial ATP synthase subunit

pfam16731
Location:1538 → 1726

GARP; Glutamic acid/alanine-rich protein of Trypanosoma

cl09111
Location:1649 → 1766

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

cl09820
Location:1251 → 1380

PhaP_Bmeg; Polyhydroxyalkanoic acid inclusion protein (PhaP_Bmeg)