Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 84171
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol LOXL4   Gene   UCSC   Ensembl
Aliases LOXC
Gene name lysyl oxidase like 4
Alternate names lysyl oxidase homolog 4, lysyl oxidase related C, lysyl oxidase-like 4 pseudogene, lysyl oxidase-like protein 4, lysyl oxidase-related protein C,
Gene location 10q24.2 (98268249: 98247685)     Exons: 16     NC_000010.11
Gene summary(Entrez) 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. [provided by RefSeq, Jul 2008]
OMIM 607318

SNPs

 rs17524355

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.98253681C>T
NC_000010.10   g.100013438C>T
NC_000010.11   g.98253681C>T
NM_032211.6   c.1707G>A
NP_115587.6   p.Ala569=
XP_005270273.1   p.Ala570=
XP_006718083.1   p.Ala570=
XR_246174.1   n.487+1479C>T
rs737657

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.98253133A>G
NC_000010.10   g.100012890A>G
NC_000010.11   g.98253133A>G
NM_032211.6   c.1835+420T>C
XR_246174.1   n.487+931A>G

Protein Summary
Protein general information Q96JB6  

Name: Lysyl oxidase homolog 4 (EC 1.4.3. ) (Lysyl oxidase like protein 4) (Lysyl oxidase related protein C)

Length: 756  Mass: 84,483

Tissue specificity: Expressed in many tissues, the highest levels among the tissues studied being in the skeletal muscle, testis and pancreas. Expressed in cartilage.

Sequence MAWSPPATLFLFLLLLGQPPPSRPQSLGTTKLRLVGPESKPEEGRLEVLHQGQWGTVCDDNFAIQEATVACRQLG
FEAALTWAHSAKYGQGEGPIWLDNVRCVGTESSLDQCGSNGWGVSDCSHSEDVGVICHPRRHRGYLSETVSNALG
PQGRRLEEVRLKPILASAKQHSPVTEGAVEVKYEGHWRQVCDQGWTMNNSRVVCGMLGFPSEVPVDSHYYRKVWD
LKMRDPKSRLKSLTNKNSFWIHQVTCLGTEPHMANCQVQVAPARGKLRPACPGGMHAVVSCVAGPHFRPPKTKPQ
RKGSWAEEPRVRLRSGAQVGEGRVEVLMNRQWGTVCDHRWNLISASVVCRQLGFGSAREALFGARLGQGLGPIHL
SEVRCRGYERTLSDCPALEGSQNGCQHENDAAVRCNVPNMGFQNQVRLAGGRIPEEGLLEVQVEVNGVPRWGSVC
SENWGLTEAMVACRQLGLGFAIHAYKETWFWSGTPRAQEVVMSGVRCSGTELALQQCQRHGPVHCSHGGGRFLAG
VSCMDSAPDLVMNAQLVQETAYLEDRPLSQLYCAHEENCLSKSADHMDWPYGYRRLLRFSTQIYNLGRTDFRPKT
GRDSWVWHQCHRHYHSIEVFTHYDLLTLNGSKVAEGHKASFCLEDTNCPTGLQRRYACANFGEQGVTVGCWDTYR
HDIDCQWVDITDVGPGNYIFQVIVNPHYEVAESDFSNNMLQCRCKYDGHRVWLHNCHTGNSYPANAELSLEQEQR
LRNNLI
Structural information
Protein Domains
 SRCR (32-133)
SRCR (159-287)
SRCR (311-411)
SRCR (421-529)
Interpro:  IPR001695 IPR019828 IPR001190 IPR017448
Prosite:   PS00926 PS00420 PS50287

Pfam:  		 PF01186 PF00530
MINT:   1448374
STRING:   ENSP00000260702;
Other Databases GeneCards:  LOXL4;  Malacards:  LOXL4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005044 scavenger receptor activi
ty
 IEA molecular_function
GO:0005507 copper ion binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005615 extracellular space
 IEA cellular_component
GO:0006898 receptor-mediated endocyt
osis
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016641 oxidoreductase activity,
acting on the CH-NH2 grou
p of donors, oxygen as ac
ceptor
 IEA molecular_function
GO:0043235 receptor complex
 IDA cellular_component
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0005044 scavenger receptor activi
ty
 IEA molecular_function
GO:0005507 copper ion binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0006898 receptor-mediated endocyt
osis
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0016641 oxidoreductase activity,
acting on the CH-NH2 grou
p of donors, oxygen as ac
ceptor
 IEA molecular_function
GO:0043235 receptor complex
 IDA cellular_component
GO:0046872 metal ion binding
 IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0043235 receptor complex
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component

Diseases

Associated diseases References
Alzheimer's disease PMID: 16385451
Brain aneurysm PMID: 17287949
Endometriosis PMID: 21733505
Endometriosis associated infertility INFBASE21733505
Endometriosis INFBASE21733505

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21733505 Endometrio
sis
 Puerto
Rican
 384 (147 contro
ls without endo
metriosis or in
fertility, 214
subjects with
endometriosis,
with or without
infertility, 7
2 subjects with
endometriosis
without known i
nfertility prob
lems, 73 subjec
ts with endomet
riosis-associat
ed infertility)
 Female infertility LOXL4
C3
 Show abstract