Skip Header

 
Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot Q9BYJ1 (LOXE3_HUMAN)

Last modified July 7, 2009. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein namesRecommended name:
    Epidermis-type lipoxygenase 3
      Short name=e-LOX-3
    EC=1.13.11.-
Gene names
Name: ALOXE3
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length711 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

Hide | Top

General annotation (Comments)

Function

Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known.

Cofactor

Binds 1 iron ion per subunit By similarity.

Pathway

Lipid metabolism; leukotriene D4 biosynthesis.

Tissue specificity

Predominantly expressed in skin.

Involvement in disease

Defects in ALOXE3 are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]. NCIE is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Ref.5

Sequence similarities

Belongs to the lipoxygenase family.

Contains 1 lipoxygenase domain.

Contains 1 PLAT domain.

Hide | Top

Ontologies

Keywords
   Biological processLeukotriene biosynthesis
   DiseaseDisease mutation
Ichthyosis
   LigandIron
Metal-binding
   Molecular functionDioxygenase
Oxidoreductase
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processleukotriene biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-KW

oxidation reduction

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functioniron ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

lipoxygenase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Hide | Top

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 711711Epidermis-type lipoxygenase 3
PRO_0000220691

Regions

Domain2 – 119118PLAT
Domain120 – 711592Lipoxygenase

Sites

Metal binding4081Iron; catalytic By similarity
Metal binding4131Iron; catalytic By similarity
Metal binding5881Iron; catalytic By similarity
Metal binding5921Iron; catalytic By similarity
Metal binding7111Iron; via carboxylate; catalytic By similarity

Natural variations

Natural variant3961R → S in NCIE. Ref.5
VAR_015175
Natural variant5001V → F in NCIE. Ref.5
VAR_015176

Experimental info

Sequence conflict1551C → R in CAC12843. Ref.1
Sequence conflict1941F → L in AAG16899. Ref.2

Hide | Top

Sequences

Sequence LengthMass (Da)Tools
Q9BYJ1-1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: BDED1E4ED5CF6783

FASTA71180,543
        10         20         30         40         50         60 
MAVYRLCVTT GPYLRAGTLD NISVTLVGTC GESPKQRLDR MGRDFAPGSV QKYKVRCTAE 

        70         80         90        100        110        120 
LGELLLLRVH KERYAFFRKD SWYCSRICVT EPDGSVSHFP CYQWIEGYCT VELRPGTART 

       130        140        150        160        170        180 
ICQDSLPLLL DHRTRELRAR QECYRWKIYA PGFPCMVDVN SFQEMESDKK FALTKTTTCV 

       190        200        210        220        230        240 
DQGDSSGNRY LPGFPMKIDI PSLMYMEPNV RYSATKTISL LFNAIPASLG MKLRGLLDRK 

       250        260        270        280        290        300 
GSWKKLDDMQ NIFWCHKTFT TKYVTEHWCE DHFFGYQYLN GVNPVMLHCI SSLPSKLPVT 

       310        320        330        340        350        360 
NDMVAPLLGQ DTCLQTELER GNIFLADYWI LAEAPTHCLN GRQQYVAAPL CLLWLSPQGA 

       370        380        390        400        410        420 
LVPLAIQLSQ TPGPDSPIFL PTDSEWDWLL AKTWVRNSEF LVHENNTHFL CTHLLCEAFA 

       430        440        450        460        470        480 
MATLRQLPLC HPIYKLLLPH TRYTLQVNTI ARATLLNPEG LVDQVTSIGR QGLIYLMSTG 

       490        500        510        520        530        540 
LAHFTYTNFC LPDSLRARGV LAIPNYHYRD DGLKIWAAIE SFVSEIVGYY YPSDASVQQD 

       550        560        570        580        590        600 
SELQAWTGEI FAQAFLGRES SGFPSRLCTP GEMVKFLTAI IFNCSAQHAA VNSGQHDFGA 

       610        620        630        640        650        660 
WMPNAPSSMR QPPPQTKGTT TLKTYLDTLP EVNISCNNLL LFWLVSQEPK DQRPLGTYPD 

       670        680        690        700        710 
EHFTEEAPRR SIAAFQSRLA QISRDIQERN QGLALPYTYL DPPLIENSVS I

« Hide

Hide | Top

References

« Hide 'large scale' references
[1]"A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression."
Krieg P., Marks F., Fuerstenberger G.
Genomics 73:323-330(2001) [PubMed: 11350124] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]"Human epidermal lipoxygenase, ortholog of mouse Aloxe3."
Brash A.R., Boeglin W.E.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Thalamus.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1."
Jobard F., Lefevre C., Karaduman A., Blanchet-Bardon C., Emre S., Weissenbach J., Ozguc M., Lathrop M., Prud'homme J.-F., Fischer J.
Hum. Mol. Genet. 11:107-113(2002) [PubMed: 11773004] [Abstract]
Cited for: VARIANTS NCIE SER-396 AND PHE-500.
+Additional computationally mapped references.

Hide | Top

Web resources

GeneReviews

Hide | Top

Cross-references

Sequence databases

AJ269499 mRNA. Translation: CAC12843.1.
AJ305020 expand/collapse EMBL AC list , AJ305021, AJ305023, AJ305025 Genomic DNA. Translation: CAC34518.1.
AF182218 mRNA. Translation: AAG16899.1.
AK313677 mRNA. Translation: BAG36428.1.
BC101938 mRNA. Translation: AAI01939.1.
BC101939 mRNA. Translation: AAI01940.1.
BC103508 mRNA. Translation: AAI03509.1.
BC104724 mRNA. Translation: AAI04725.1.
IPIIPI00307549.
RefSeqNP_067641.2.
UniGeneHs.232770

3D structure databases

HSSPHSSP built from PDB template 1LOX based on UniProtKB P12530.
ModBaseSearch...

Proteomic databases

PRIDEQ9BYJ1.

Genome annotation databases

EnsemblENSG00000179148. Homo sapiens. [Contig view]
GeneID59344.
KEGGhsa:59344.
UCSCuc010cnr.1. human.

Organism-specific databases

GeneCardsGC17M007939.
HGNCHGNC:13743. ALOXE3.
MIM242100. phenotype.
607206. gene.
Orphanet79394. Erythroderma, congenital ichthyosiform, nonbullous.
313. Ichthyosis, lamellar.
PharmGKBPA24727.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9BYJ1.
HOVERGENQ9BYJ1.

Gene expression databases

ArrayExpressQ9BYJ1.
BgeeQ9BYJ1.
CleanExHS_ALOXE3.
GermOnlineENSG00000179148. Homo sapiens.

Family and domain databases

InterProIPR000907. LipOase.
IPR013819. LipOase_C.
IPR001024. LipOase_LH2.
IPR001885. LipOase_mml.
[Graphical view]
Gene3DG3DSA:2.60.60.20. Lipase_LipOase. 1 hit.
PANTHERPTHR11771. LipOase. 1 hit.
PfamPF00305. Lipoxygenase. 1 hit.
PF01477. PLAT. 1 hit.
[Graphical view]
PRINTSPR00087. LIPOXYGENASE.
PR00467. MAMLPOXGNASE.
SMARTSM00308. LH2. 1 hit.
[Graphical view]
PROSITEPS00711. LIPOXYGENASE_1. 1 hit.
PS00081. LIPOXYGENASE_2. 1 hit.
PS51393. LIPOXYGENASE_3. 1 hit.
PS50095. PLAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio65242.
SOURCESearch...

Hide | Top

Entry information

Entry nameLOXE3_HUMAN
AccessionPrimary (citable) accession number: Q9BYJ1
Secondary accession number(s): B2R981 expand/collapse secondary AC list , Q3ZB74, Q9H4F2, Q9HC22
Entry history
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: June 1, 2001
Last modified: July 7, 2009
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents