Format

Send to:

Choose Destination

LOXL3 lysyl oxidase like 3 [ Homo sapiens (human) ]

Gene ID: 84695, updated on 21-May-2016
Official Symbol
LOXL3provided by HGNC
Official Full Name
lysyl oxidase like 3provided by HGNC
Primary source
HGNC:HGNC:13869
See related
Ensembl:ENSG00000115318 HPRD:06200; MIM:607163; Vega:OTTHUMG00000129953
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
LOXL
Summary
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Orthologs
Location:
2p13
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (74532258..74555887, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74759946..74781088, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DEAQ-box RNA dependent ATPase 1 Neighboring gene ancient ubiquitous protein 1 Neighboring gene HtrA serine peptidase 2 Neighboring gene docking protein 1 Neighboring gene meiosis 1 associated protein Neighboring gene torsin family 1 member B pseudogene Neighboring gene TVP23B pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Crosslinking of collagen fibrils, organism-specific biosystem (from REACTOME)
    Crosslinking of collagen fibrils, organism-specific biosystemAfter removal of the N- and C-procollagen propeptides, fibrillar collagen molecules aggregate into microfibrillar arrays, stabilized by covalent intermolecular cross-links. These depend on the oxidat...
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-lysine 6-oxidase activity NAS
Non-traceable Author Statement
more info
PubMed 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
lysyl oxidase homolog 3
Names
lysyl oxidase-like 3
lysyl oxidase-like protein 3
NP_001276093.1
NP_001276094.1
NP_115992.1

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_033047.1 RefSeqGene

    Range
    4972..26678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289164.1NP_001276093.1  lysyl oxidase homolog 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001276093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. Its encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC005033, AF311313, BC071865, DA554977, DQ378059
    Consensus CDS
    CCDS74527.1
    UniProtKB/Swiss-Prot
    P58215
    Related
    ENSP00000377512, OTTHUMP00000202708, ENST00000393937, OTTHUMT00000328559
    Conserved Domains (2) summary
    pfam01186
    Location:384587
    Lysyl_oxidase; Lysyl oxidase
    smart00202
    Location:162262
    SR; Scavenger receptor Cys-rich
  2. NM_001289165.1NP_001276094.1  lysyl oxidase homolog 3 isoform 3

    See identical proteins and their annotated locations for NP_001276094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the use of an alternate promoter, differs in the 5' UTR, and lacks a portion of the 5' coding region, compared to variant 1. This results in an isoform (3) which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    DQ378059
    UniProtKB/Swiss-Prot
    P58215
    Conserved Domains (2) summary
    pfam01186
    Location:168371
    Lysyl_oxidase; Lysyl oxidase
    smart00202
    Location:56164
    SR; Scavenger receptor Cys-rich
  3. NM_032603.3NP_115992.1  lysyl oxidase homolog 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_115992.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC005033, AF282619, AF311313, DA554977, DQ378059
    Consensus CDS
    CCDS1953.1
    UniProtKB/Swiss-Prot
    P58215
    Related
    ENSP00000264094, OTTHUMP00000160411, ENST00000264094, OTTHUMT00000252215
    Conserved Domains (2) summary
    pfam01186
    Location:529732
    Lysyl_oxidase; Lysyl oxidase
    smart00202
    Location:307407
    SR; Scavenger receptor Cys-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    74532258..74555887 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533134.1XP_011531436.1  

    See identical proteins and their annotated locations for XP_011531436.1

    UniProtKB/Swiss-Prot
    P58215
    Related
    ENSP00000386696, OTTHUMP00000202710, ENST00000409549, OTTHUMT00000328561
    Conserved Domains (2) summary
    pfam01186
    Location:529732
    Lysyl_oxidase; Lysyl oxidase
    smart00202
    Location:307407
    SR; Scavenger receptor Cys-rich

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    74688781..74710486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)