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LAMB4 laminin subunit beta 4 [ Homo sapiens (human) ]

Gene ID: 22798, updated on 11-Jun-2021

Summary

Official Symbol
LAMB4provided by HGNC
Official Full Name
laminin subunit beta 4provided by HGNC
Primary source
HGNC:HGNC:6491
See related
Ensembl:ENSG00000091128 MIM:616380
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in skin (RPKM 11.6), placenta (RPKM 1.2) and 1 other tissue See more
Orthologs
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Genomic context

See LAMB4 in Genome Data Viewer
Location:
7q31.1
Exon count:
41
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (108011662..108130361, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107663998..107770806, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2081 Neighboring gene dihydrolipoamide dehydrogenase Neighboring gene laminin subunit beta 1 Neighboring gene uncharacterized LOC107986834 Neighboring gene uncharacterized LOC107986835 Neighboring gene uncharacterized LOC105375446 Neighboring gene uncharacterized LOC102724363 Neighboring gene neuronal cell adhesion molecule Neighboring gene RNA, U7 small nuclear 83 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in basement membrane assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in substrate adhesion-dependent cell spreading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
part_of laminin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
laminin subunit beta-4
Names
laminin beta-1-related protein

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.

mRNA and Protein(s)

  1. NM_001318046.2NP_001304975.1  laminin subunit beta-4 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC005048, AF028816, AK300385, BC144591
    Consensus CDS
    CCDS34732.1
    UniProtKB/Swiss-Prot
    A4D0S4
    UniProtKB/TrEMBL
    B4DTV7, B7ZMJ6
    Related
    ENSP00000205386.4, ENST00000205386.8
    Conserved Domains (5) summary
    cd00055
    Location:454503
    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:10801128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38263
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam07926
    Location:16091741
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    cl21504
    Location:938967
    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 ...
  2. NM_001318047.2NP_001304976.1  laminin subunit beta-4 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC005048, AF029325, AK300385, BC144591
    UniProtKB/TrEMBL
    B4DTV7, B7ZMJ6, O95127
    Related
    ENST00000475469.1
    Conserved Domains (3) summary
    cd00055
    Location:454503
    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:395452
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:42263
    Laminin_N; Laminin N-terminal (Domain VI)
  3. NM_001318048.2NP_001304977.1  laminin subunit beta-4 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant a. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC005048, AK300385, BC142619, BC144591
    Consensus CDS
    CCDS83218.1
    UniProtKB/Swiss-Prot
    A4D0S4
    UniProtKB/TrEMBL
    B4DTV7, B7ZMJ6, C9JMJ0
    Related
    ENSP00000402353.2, ENST00000418464.1
    Conserved Domains (4) summary
    cd00055
    Location:454503
    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:395452
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:42263
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam13900
    Location:706753
    GVQW; Putative domain of unknown function
  4. NM_007356.3NP_031382.2  laminin subunit beta-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_031382.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC005048, AF028816, BC045172, DA859196
    Consensus CDS
    CCDS34732.1
    UniProtKB/Swiss-Prot
    A4D0S4
    Related
    ENSP00000373433.3, ENST00000388781.8
    Conserved Domains (5) summary
    cd00055
    Location:454503
    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:10801128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38263
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam07926
    Location:16091741
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    cl21504
    Location:938967
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    108011662..108130361 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515975.1XP_011514277.1  laminin subunit beta-4 isoform X1

    Conserved Domains (5) summary
    cd00055
    Location:454503
    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 ...
    TIGR04523
    Location:12541714
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam00053
    Location:10801128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38263
    Laminin_N; Laminin N-terminal (Domain VI)
    cl21504
    Location:938967
    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 ...
  2. XM_017011879.1XP_016867368.1  laminin subunit beta-4 isoform X2

  3. XM_011515979.2XP_011514281.1  laminin subunit beta-4 isoform X4

    Conserved Domains (3) summary
    cd00055
    Location:454503
    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:10801128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38263
    Laminin_N; Laminin N-terminal (Domain VI)
  4. XM_011515978.1XP_011514280.1  laminin subunit beta-4 isoform X3

    UniProtKB/Swiss-Prot
    A4D0S4
    Conserved Domains (4) summary
    cd00055
    Location:454503
    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 ...
    TIGR04523
    Location:12541714
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam00053
    Location:10801128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38263
    Laminin_N; Laminin N-terminal (Domain VI)
  5. XM_011515980.2XP_011514282.1  laminin subunit beta-4 isoform X6

    Conserved Domains (3) summary
    cd00055
    Location:454503
    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:10801128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38263
    Laminin_N; Laminin N-terminal (Domain VI)
  6. XM_017011880.1XP_016867369.1  laminin subunit beta-4 isoform X5

RNA

  1. XR_927421.1 RNA Sequence

  2. XR_927422.1 RNA Sequence

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