LAMA5 laminin subunit alpha 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMA5provided by HGNC
Official Full Name: laminin subunit alpha 5provided by HGNC
Primary source: HGNC:HGNC:6485
See related: Ensembl:ENSG00000130702 MIM:601033; AllianceGenome:HGNC:6485
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: BBDS2; NPHS26
Summary: This gene encodes one of the vertebrate laminin alpha chains. 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. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
Expression: Broad expression in skin (RPKM 18.3), placenta (RPKM 17.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 81

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (62309065..62367312, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64100010..64163029, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (60884121..60942368, complement)

Chromosome 20 - NC_000020.11 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?

A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects.
Title: A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects.
Laminin 511 and WNT signalling sustain prolonged expansion of hiPSC-derived hippocampal progenitors.
Title: Laminin 511 and WNT signalling sustain prolonged expansion of hiPSC-derived hippocampal progenitors.
Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.
Title: Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.
Gene-based association analysis reveals involvement of LAMA5 and cell adhesion pathways in nicotine dependence in African- and European-American samples.
Title: Gene-based association analysis reveals involvement of LAMA5 and cell adhesion pathways in nicotine dependence in African- and European-American samples.
Regulation and Function of Laminin A5 during Mouse and Human Decidualization.
Title: Regulation and Function of Laminin A5 during Mouse and Human Decidualization.
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Title: Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
The lymph node stromal laminin alpha5 shapes alloimmunity.
Title: The lymph node stromal laminin α5 shapes alloimmunity.
Plasma level of laminin 5 and collagen IV in cryptorchidism.
Title: Plasma level of laminin 5 and collagen IV in cryptorchidism.
Knockdown of the alpha5 laminin chain affects differentiation of colorectal cancer cells and their sensitivity to chemotherapy.
Title: Knockdown of the α5 laminin chain affects differentiation of colorectal cancer cells and their sensitivity to chemotherapy.
LAMA5 promotes human umbilical vein endothelial cells migration, proliferation, and angiogenesis and is decreased in preeclampsia.
Title: LAMA5 promotes human umbilical vein endothelial cells migration, proliferation, and angiogenesis and is decreased in preeclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (74)

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
Bent bone dysplasia syndrome 2 MedGen: C5774233 OMIM: 620076 GeneReviews: Not available	Compare labs
Nephrotic syndrome, IIa 26 MedGen: C5774221 OMIM: 620049 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 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
Envelope surface glycoprotein gp120	env	HIV-1 gp120 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins	PubMed
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

D8S2279 (e-PCR)
- UniSTS:473907

RH17482 (e-PCR)
- UniSTS:37365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of a polarized epithelium	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of embryonic epithelium	IEA Inferred from Electronic Annotation more info
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of embryonic development	IEA Inferred from Electronic Annotation more info
involved_in regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in trunk neural crest cell migration	IEA Inferred from Electronic Annotation more info

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
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix of synaptic cleft	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of laminin-10 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-10 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-11 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-5 complex	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: laminin subunit alpha-5

Names: laminin alpha-5 chain; laminin alpha5-chain; laminin-10 subunit alpha; laminin-11 subunit alpha; laminin-15 subunit alpha

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_050626.2 RefSeqGene

Range

5000..63247

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005560.6 → NP_005551.3 laminin subunit alpha-5 precursor

See identical proteins and their annotated locations for NP_005551.3

Status: REVIEWED

Source sequence(s)

AL354836

Consensus CDS

CCDS33502.1

UniProtKB/Swiss-Prot

O15230, Q5U4N9, Q8TDF8, Q8WZA7, Q9H1P1

Related

ENSP00000252999.3, ENST00000252999.7

Conserved Domains (11) summary

smart00180
Location:2023 → 2067

EGF_Lam; Laminin-type epidermal growth factor-like domai

smart00282
Location:2781 → 2908

LamG; Laminin G domain

cd00055
Location:540 → 583

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 ...

cd00110
Location:3340 → 3497

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00052
Location:1693 → 1818

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1577 → 1625

Laminin_EGF; Laminin EGF domain

pfam00055
Location:54 → 298

Laminin_N; Laminin N-terminal (Domain VI)

pfam04012
Location:2435 → 2695

PspA_IM30; PspA/IM30 family

pfam06008
Location:2188 → 2450

Laminin_I; Laminin Domain I

pfam06009
Location:2641 → 2762

Laminin_II; Laminin Domain II

cd16172
Location:2287 → 2578

TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

62309065..62367312 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440149.1 → XP_047296105.1 laminin subunit alpha-5 isoform X5
XM_011528819.3 → XP_011527121.1 laminin subunit alpha-5 isoform X4

Conserved Domains (11) summary

smart00180
Location:1932 → 1976

EGF_Lam; Laminin-type epidermal growth factor-like domai

smart00282
Location:2690 → 2817

LamG; Laminin G domain

cd00055
Location:540 → 583

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 ...

cd00110
Location:3254 → 3411

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00052
Location:1602 → 1727

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1486 → 1534

Laminin_EGF; Laminin EGF domain

pfam00055
Location:54 → 298

Laminin_N; Laminin N-terminal (Domain VI)

pfam04012
Location:2344 → 2604

PspA_IM30; PspA/IM30 family

pfam06008
Location:2097 → 2359

Laminin_I; Laminin Domain I

pfam06009
Location:2550 → 2671

Laminin_II; Laminin Domain II

cd16172
Location:2196 → 2487

TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS
XM_047440148.1 → XP_047296104.1 laminin subunit alpha-5 isoform X3
XM_011528818.3 → XP_011527120.1 laminin subunit alpha-5 isoform X2

Conserved Domains (11) summary

smart00180
Location:1977 → 2021

EGF_Lam; Laminin-type epidermal growth factor-like domai

smart00282
Location:2735 → 2862

LamG; Laminin G domain

cd00055
Location:540 → 583

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 ...

cd00110
Location:3299 → 3456

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00052
Location:1647 → 1772

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1531 → 1579

Laminin_EGF; Laminin EGF domain

pfam00055
Location:54 → 298

Laminin_N; Laminin N-terminal (Domain VI)

pfam04012
Location:2389 → 2649

PspA_IM30; PspA/IM30 family

pfam06008
Location:2142 → 2404

Laminin_I; Laminin Domain I

pfam06009
Location:2595 → 2716

Laminin_II; Laminin Domain II

cd16172
Location:2241 → 2532

TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS
XM_006723796.4 → XP_006723859.1 laminin subunit alpha-5 isoform X1

Conserved Domains (11) summary

smart00180
Location:2023 → 2067

EGF_Lam; Laminin-type epidermal growth factor-like domai

smart00282
Location:2781 → 2908

LamG; Laminin G domain

cd00055
Location:540 → 583

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 ...

cd00110
Location:3345 → 3502

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00052
Location:1693 → 1818

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1577 → 1625

Laminin_EGF; Laminin EGF domain

pfam00055
Location:54 → 298

Laminin_N; Laminin N-terminal (Domain VI)

pfam04012
Location:2435 → 2695

PspA_IM30; PspA/IM30 family

pfam06008
Location:2188 → 2450

Laminin_I; Laminin Domain I

pfam06009
Location:2641 → 2762

Laminin_II; Laminin Domain II

cd16172
Location:2287 → 2578

TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS
XM_047440150.1 → XP_047296106.1 laminin subunit alpha-5 isoform X6
XM_006723798.4 → XP_006723861.1 laminin subunit alpha-5 isoform X7

Conserved Domains (6) summary

smart00180
Location:2023 → 2065

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00055
Location:540 → 583

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 ...

pfam00052
Location:1693 → 1818

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1577 → 1625

Laminin_EGF; Laminin EGF domain

pfam00055
Location:54 → 298

Laminin_N; Laminin N-terminal (Domain VI)

cl21504
Location:2117 → 2145

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...