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Protein

Arachidonate 12-lipoxygenase, 12R-type

Gene

ALOX12B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12R)-hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. May also play a role in the regulation of the expression of airway mucins.3 Publications

Catalytic activityi

Arachidonate + O2 = (5Z,8Z,10E,14Z)-(12R)-12-hydroperoxyicosa-5,8,10,14-tetraenoate.1 Publication

Cofactori

Fe cationPROSITE-ProRule annotationNote: Binds 1 Fe cation per subunit.PROSITE-ProRule annotation

Pathwayi: hydroperoxy eicosatetraenoic acid biosynthesis

This protein is involved in the pathway hydroperoxy eicosatetraenoic acid biosynthesis, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway hydroperoxy eicosatetraenoic acid biosynthesis and in Lipid metabolism.

Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi398Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi403Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi578Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi582Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi701Iron; via carboxylate; catalyticPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandIron, Metal-binding

Enzyme and pathway databases

BRENDAi1.13.11.31 2681
ReactomeiR-HSA-2142712 Synthesis of 12-eicosatetraenoic acid derivatives
UniPathwayi
UPA00222

UPA00881

Chemistry databases

SwissLipidsiSLP:000000655

Names & Taxonomyi

Protein namesi
Recommended name:
Arachidonate 12-lipoxygenase, 12R-type (EC:1.13.11.-)
Short name:
12R-LOX
Short name:
12R-lipoxygenase
Alternative name(s):
Epidermis-type lipoxygenase 12
Gene namesi
Name:ALOX12B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000179477.9
HGNCiHGNC:430 ALOX12B
MIMi603741 gene
neXtProtiNX_O75342

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 2 (ARCI2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:242100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06954524L → P in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs201575829Ensembl.1
Natural variantiVAR_06954667I → F in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs397514533EnsemblClinVar.1
Natural variantiVAR_069547114R → W in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs397514526EnsemblClinVar.1
Natural variantiVAR_069548127P → S in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs72842957EnsemblClinVar.1
Natural variantiVAR_069549195F → L in ARCI2; complete loss of the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs200516538Ensembl.1
Natural variantiVAR_069550318Y → C in ARCI2. 1 Publication1
Natural variantiVAR_069551382K → E in ARCI2; complete loss of the enzyme activity. 1 Publication1
Natural variantiVAR_069552383T → M in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs760428119Ensembl.1
Natural variantiVAR_069553416N → K in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs1039399607Ensembl.1
Natural variantiVAR_015173426L → P in ARCI2; complete loss of the enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137853023EnsemblClinVar.1
Natural variantiVAR_069554462G → D in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs774958790Ensembl.1
Natural variantiVAR_069555488R → H in ARCI2; complete loss of the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763468558Ensembl.1
Natural variantiVAR_069556521Y → C in ARCI2. 2 PublicationsCorresponds to variant dbSNP:rs199766569EnsemblClinVar.1
Natural variantiVAR_069557527V → M in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs199545653EnsemblClinVar.1
Natural variantiVAR_015174578H → Q in ARCI2; complete loss of the enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137853024EnsemblClinVar.1
Natural variantiVAR_069558597A → E in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs752509098EnsemblClinVar.1
Natural variantiVAR_069559664A → P in ARCI2; complete loss of the enzyme activity. 1 Publication1
Natural variantiVAR_069560679R → L in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs397514528EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi242
GeneReviewsiALOX12B
MalaCardsiALOX12B
MIMi242100 phenotype
OpenTargetsiENSG00000179477
Orphaneti79394 Congenital non-bullous ichthyosiform erythroderma
313 Lamellar ichthyosis
281122 Self-healing collodion baby
PharmGKBiPA24722

Polymorphism and mutation databases

BioMutaiALOX12B

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002206891 – 701Arachidonate 12-lipoxygenase, 12R-typeAdd BLAST701

Proteomic databases

MaxQBiO75342
PaxDbiO75342
PeptideAtlasiO75342
PRIDEiO75342
ProteomicsDBi49910

PTM databases

iPTMnetiO75342
PhosphoSitePlusiO75342

Expressioni

Tissue specificityi

Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue.1 Publication

Gene expression databases

BgeeiENSG00000179477 Expressed in 81 organ(s), highest expression level in skin of leg
CleanExiHS_ALOX12B
GenevisibleiO75342 HS

Organism-specific databases

HPAiHPA024002

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ALOXE3Q9BYJ12EBI-6925925,EBI-6925949

Protein-protein interaction databases

BioGridi106743, 31 interactors
IntActiO75342, 3 interactors
MINTiO75342
STRINGi9606.ENSP00000315167

Chemistry databases

BindingDBiO75342

Structurei

3D structure databases

ProteinModelPortaliO75342
SMRiO75342
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 119PLATPROSITE-ProRule annotationAdd BLAST118
Domaini120 – 701LipoxygenasePROSITE-ProRule annotationAdd BLAST582

Sequence similaritiesi

Belongs to the lipoxygenase family.Curated

Phylogenomic databases

eggNOGiENOG410IF0U Eukaryota
ENOG410YN4N LUCA
GeneTreeiENSGT00550000074415
HOGENOMiHOG000234358
HOVERGENiHBG005150
InParanoidiO75342
KOiK08021
OMAiYHFPAYQ
OrthoDBiEOG091G04A4
PhylomeDBiO75342
TreeFamiTF105320

Family and domain databases

InterProiView protein in InterPro
IPR000907 LipOase
IPR013819 LipOase_C
IPR036226 LipOase_C_sf
IPR020834 LipOase_CS
IPR020833 LipOase_Fe_BS
IPR001885 LipOase_mml
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
PANTHERiPTHR11771 PTHR11771, 1 hit
PfamiView protein in Pfam
PF00305 Lipoxygenase, 1 hit
PF01477 PLAT, 1 hit
PRINTSiPR00087 LIPOXYGENASE
PR00467 MAMLPOXGNASE
SMARTiView protein in SMART
SM00308 LH2, 1 hit
SUPFAMiSSF48484 SSF48484, 1 hit
SSF49723 SSF49723, 1 hit
PROSITEiView protein in PROSITE
PS00711 LIPOXYGENASE_1, 1 hit
PS00081 LIPOXYGENASE_2, 1 hit
PS51393 LIPOXYGENASE_3, 1 hit
PS50095 PLAT, 1 hit

Sequencei

Sequence statusi: Complete.

O75342-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATYKVRVAT GTDLLSGTRD SISLTIVGTQ GESHKQLLNH FGRDFATGAV
60 70 80 90 100
GQYTVQCPQD LGELIIIRLH KERYAFFPKD PWYCNYVQIC APNGRIYHFP
110 120 130 140 150
AYQWMDGYET LALREATGKT TADDSLPVLL EHRKEEIRAK QDFYHWRVFL
160 170 180 190 200
PGLPSYVHIP SYRPPVRRHR NPNRPEWNGY IPGFPILINF KATKFLNLNL
210 220 230 240 250
RYSFLKTASF FVRLGPMALA FKVRGLLDCK HSWKRLKDIR KIFPGKKSVV
260 270 280 290 300
SEYVAEHWAE DTFFGYQYLN GVNPGLIRRC TRIPDKFPVT DDMVAPFLGE
310 320 330 340 350
GTCLQAELEK GNIYLADYRI MEGIPTVELS GRKQHHCAPL CLLHFGPEGK
360 370 380 390 400
MMPIAIQLSQ TPGPDCPIFL PSDSEWDWLL AKTWVRYAEF YSHEAIAHLL
410 420 430 440 450
ETHLIAEAFC LALLRNLPMC HPLYKLLIPH TRYTVQINSI GRAVLLNEGG
460 470 480 490 500
LSAKGMSLGV EGFAGVMVRA LSELTYDSLY LPNDFVERGV QDLPGYYYRD
510 520 530 540 550
DSLAVWNALE KYVTEIITYY YPSDAAVEGD PELQSWVQEI FKECLLGRES
560 570 580 590 600
SGFPRCLRTV PELIRYVTIV IYTCSAKHAA VNTGQMEFTA WMPNFPASMR
610 620 630 640 650
NPPIQTKGLT TLETFMDTLP DVKTTCITLL VLWTLSREPD DRRPLGHFPD
660 670 680 690 700
IHFVEEAPRR SIEAFRQRLN QISHDIRQRN KCLPIPYYYL DPVLIENSIS

I
Length:701
Mass (Da):80,356
Last modified:November 1, 1998 - v1
Checksum:iC334075759F8B077
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06954524L → P in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs201575829Ensembl.1
Natural variantiVAR_06954667I → F in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs397514533EnsemblClinVar.1
Natural variantiVAR_05000094G → S. Corresponds to variant dbSNP:rs8077661EnsemblClinVar.1
Natural variantiVAR_069547114R → W in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs397514526EnsemblClinVar.1
Natural variantiVAR_069548127P → S in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs72842957EnsemblClinVar.1
Natural variantiVAR_069549195F → L in ARCI2; complete loss of the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs200516538Ensembl.1
Natural variantiVAR_069550318Y → C in ARCI2. 1 Publication1
Natural variantiVAR_069551382K → E in ARCI2; complete loss of the enzyme activity. 1 Publication1
Natural variantiVAR_069552383T → M in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs760428119Ensembl.1
Natural variantiVAR_069553416N → K in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs1039399607Ensembl.1
Natural variantiVAR_015173426L → P in ARCI2; complete loss of the enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137853023EnsemblClinVar.1
Natural variantiVAR_069554462G → D in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs774958790Ensembl.1
Natural variantiVAR_069555488R → H in ARCI2; complete loss of the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs763468558Ensembl.1
Natural variantiVAR_069556521Y → C in ARCI2. 2 PublicationsCorresponds to variant dbSNP:rs199766569EnsemblClinVar.1
Natural variantiVAR_069557527V → M in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs199545653EnsemblClinVar.1
Natural variantiVAR_015174578H → Q in ARCI2; complete loss of the enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137853024EnsemblClinVar.1
Natural variantiVAR_069558597A → E in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs752509098EnsemblClinVar.1
Natural variantiVAR_069559664A → P in ARCI2; complete loss of the enzyme activity. 1 Publication1
Natural variantiVAR_069560679R → L in ARCI2. 1 PublicationCorresponds to variant dbSNP:rs397514528EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038461 mRNA Translation: AAC39770.1
AF059250 mRNA Translation: AAC79680.1
AJ305026, AJ305027 Genomic DNA Translation: CAC34520.1
BC041058 mRNA Translation: AAH41058.1
CCDSiCCDS11129.1
RefSeqiNP_001130.1, NM_001139.2
UniGeneiHs.136574

Genome annotation databases

EnsembliENST00000319144; ENSP00000315167; ENSG00000179477
GeneIDi242
KEGGihsa:242
UCSCiuc002gjy.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Protein Spotlight

about water - Issue 153 of September 2013

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038461 mRNA Translation: AAC39770.1
AF059250 mRNA Translation: AAC79680.1
AJ305026, AJ305027 Genomic DNA Translation: CAC34520.1
BC041058 mRNA Translation: AAH41058.1
CCDSiCCDS11129.1
RefSeqiNP_001130.1, NM_001139.2
UniGeneiHs.136574

3D structure databases

ProteinModelPortaliO75342
SMRiO75342
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106743, 31 interactors
IntActiO75342, 3 interactors
MINTiO75342
STRINGi9606.ENSP00000315167

Chemistry databases

BindingDBiO75342
SwissLipidsiSLP:000000655

PTM databases

iPTMnetiO75342
PhosphoSitePlusiO75342

Polymorphism and mutation databases

BioMutaiALOX12B

Proteomic databases

MaxQBiO75342
PaxDbiO75342
PeptideAtlasiO75342
PRIDEiO75342
ProteomicsDBi49910

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319144; ENSP00000315167; ENSG00000179477
GeneIDi242
KEGGihsa:242
UCSCiuc002gjy.1 human

Organism-specific databases

CTDi242
DisGeNETi242
EuPathDBiHostDB:ENSG00000179477.9
GeneCardsiALOX12B
GeneReviewsiALOX12B
HGNCiHGNC:430 ALOX12B
HPAiHPA024002
MalaCardsiALOX12B
MIMi242100 phenotype
603741 gene
neXtProtiNX_O75342
OpenTargetsiENSG00000179477
Orphaneti79394 Congenital non-bullous ichthyosiform erythroderma
313 Lamellar ichthyosis
281122 Self-healing collodion baby
PharmGKBiPA24722
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF0U Eukaryota
ENOG410YN4N LUCA
GeneTreeiENSGT00550000074415
HOGENOMiHOG000234358
HOVERGENiHBG005150
InParanoidiO75342
KOiK08021
OMAiYHFPAYQ
OrthoDBiEOG091G04A4
PhylomeDBiO75342
TreeFamiTF105320

Enzyme and pathway databases

UniPathwayi
UPA00222

UPA00881

BRENDAi1.13.11.31 2681
ReactomeiR-HSA-2142712 Synthesis of 12-eicosatetraenoic acid derivatives

Miscellaneous databases

GeneWikiiALOX12B
GenomeRNAii242
PROiPR:O75342
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179477 Expressed in 81 organ(s), highest expression level in skin of leg
CleanExiHS_ALOX12B
GenevisibleiO75342 HS

Family and domain databases

InterProiView protein in InterPro
IPR000907 LipOase
IPR013819 LipOase_C
IPR036226 LipOase_C_sf
IPR020834 LipOase_CS
IPR020833 LipOase_Fe_BS
IPR001885 LipOase_mml
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
PANTHERiPTHR11771 PTHR11771, 1 hit
PfamiView protein in Pfam
PF00305 Lipoxygenase, 1 hit
PF01477 PLAT, 1 hit
PRINTSiPR00087 LIPOXYGENASE
PR00467 MAMLPOXGNASE
SMARTiView protein in SMART
SM00308 LH2, 1 hit
SUPFAMiSSF48484 SSF48484, 1 hit
SSF49723 SSF49723, 1 hit
PROSITEiView protein in PROSITE
PS00711 LIPOXYGENASE_1, 1 hit
PS00081 LIPOXYGENASE_2, 1 hit
PS51393 LIPOXYGENASE_3, 1 hit
PS50095 PLAT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiLX12B_HUMAN
AccessioniPrimary (citable) accession number: O75342
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 1, 1998
Last modified: October 10, 2018
This is version 164 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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