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LOX lysyl oxidase [ Homo sapiens (human) ]

Gene ID: 4015, updated on 23-Nov-2021

Summary

Official Symbol
LOXprovided by HGNC
Official Full Name
lysyl oxidaseprovided by HGNC
Primary source
HGNC:HGNC:6664
See related
Ensembl:ENSG00000113083 MIM:153455
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
AAT10
Summary
This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
Expression
Broad expression in fat (RPKM 18.5), gall bladder (RPKM 11.6) and 21 other tissues See more
Orthologs
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Genomic context

See LOX in Genome Data Viewer
Location:
5q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (122063195..122078259, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (121398890..121413954, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379149 Neighboring gene uncharacterized LOC105379148 Neighboring gene ferritin mitochondrial Neighboring gene serum response factor binding protein 1 Neighboring gene ZNF474 antisense RNA 1 Neighboring gene zinc finger protein 474-like Neighboring gene zinc finger protein 474 Neighboring gene synuclein alpha interacting protein Neighboring gene ancient vomeronasal 1 receptor 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 10 Compare labs
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC105112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-lysine 6-oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein-lysine 6-oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-lysine 6-oxidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in ascending aorta development IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in cell chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to chemokine IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in connective tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in descending aorta development IEA
Inferred from Electronic Annotation
more info
 
involved_in elastic fiber assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in peptidyl-lysine oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-lysine oxidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in platelet-derived growth factor receptor-beta signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of bone development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of megakaryocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of platelet-derived growth factor receptor-beta signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of receptor binding IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in response to steroid hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein-lysine 6-oxidase
NP_001171573.1
NP_001304002.1
NP_002308.2

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

  1. NG_008722.1 RefSeqGene

    Range
    5102..20166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178102.2NP_001171573.1  protein-lysine 6-oxidase isoform 2

    See identical proteins and their annotated locations for NP_001171573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) is shorter at the N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC010255, AI351010, AK307732, CN265862, DA720490
    UniProtKB/TrEMBL
    B7ZAJ4
    Related
    ENSP00000503423.1, ENST00000503759.5
    Conserved Domains (1) summary
    pfam01186
    Location:1179
    Lysyl_oxidase; Lysyl oxidase
  2. NM_001317073.1NP_001304002.1  protein-lysine 6-oxidase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC010255, AI351010, AK307732
    UniProtKB/TrEMBL
    B0AZT2
    Related
    ENSP00000503104.1, ENST00000513319.5
    Conserved Domains (1) summary
    pfam01186
    Location:1112
    Lysyl_oxidase; Lysyl oxidase
  3. NM_002317.7NP_002308.2  protein-lysine 6-oxidase isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_002308.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010255, AI351010, AK307732, BC089436, DC299494
    Consensus CDS
    CCDS4129.1
    UniProtKB/Swiss-Prot
    P28300
    UniProtKB/TrEMBL
    D0PNI2
    Related
    ENSP00000231004.4, ENST00000231004.5
    Conserved Domains (1) summary
    pfam01186
    Location:213414
    Lysyl_oxidase; Lysyl oxidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    122063195..122078259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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