Q9BYJ1 (LOXE3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Epidermis-type lipoxygenase 3
Short name=e-LOX-3
EC=1.13.11.-

Gene names

Name:

ALOXE3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	711 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

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	Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the lipoxygenase family. Contains 1 lipoxygenase domain. Contains 1 PLAT domain.

Ontologies

Keywords
Biological process	Leukotriene biosynthesis
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Ichthyosis
Ligand	Iron Metal-binding
Molecular function	Dioxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	leukotriene biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	iron ion binding Inferred from electronic annotation. Source: InterPro lipoxygenase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BYJ1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BYJ1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPRGAFRPCL...PGHPFLLPIM

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 711	711	Epidermis-type lipoxygenase 3		PRO_0000220691
Regions
	Domain	2 – 119	118	PLAT
	Domain	120 – 711	592	Lipoxygenase
Sites
	Metal binding	408	1	Iron; catalytic By similarity
	Metal binding	413	1	Iron; catalytic By similarity
	Metal binding	588	1	Iron; catalytic By similarity
	Metal binding	592	1	Iron; catalytic By similarity
	Metal binding	711	1	Iron; via carboxylate; catalytic By similarity
Natural variations
	Alternative sequence	1	1	M → MPRGAFRPCLPALYFAFLTC PTPEQRMSGTQAPDIHLGEP ARGTGCVRGKQTSIRVQDCG RREEARAASRELRREKAQEH PRESWAHPQPYPAPQPLALR PETQPCPACRSSPPGRLLLR PALPGHPFLLPIM in isoform 2.		VSP_043287
	Natural variant	396	1	R → S in NCIE. Ref.6		VAR_015175
	Natural variant	500	1	V → F in NCIE. Ref.6		VAR_015176
Experimental info
	Sequence conflict	155	1	C → R in CAC12843. Ref.1
	Sequence conflict	194	1	F → L in AAG16899. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: BDED1E4ED5CF6783	FASTA	711	80,543
	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
	Isoform 2 [UniParc]. Checksum: 75C69C336513F82C	FASTA	843	95,186
	10 20 30 40 50 60 MPRGAFRPCL PALYFAFLTC PTPEQRMSGT QAPDIHLGEP ARGTGCVRGK QTSIRVQDCG 70 80 90 100 110 120 RREEARAASR ELRREKAQEH PRESWAHPQP YPAPQPLALR PETQPCPACR SSPPGRLLLR 130 140 150 160 170 180 PALPGHPFLL PIMAVYRLCV TTGPYLRAGT LDNISVTLVG TCGESPKQRL DRMGRDFAPG 190 200 210 220 230 240 SVQKYKVRCT AELGELLLLR VHKERYAFFR KDSWYCSRIC VTEPDGSVSH FPCYQWIEGY 250 260 270 280 290 300 CTVELRPGTA RTICQDSLPL LLDHRTRELR ARQECYRWKI YAPGFPCMVD VNSFQEMESD 310 320 330 340 350 360 KKFALTKTTT CVDQGDSSGN RYLPGFPMKI DIPSLMYMEP NVRYSATKTI SLLFNAIPAS 370 380 390 400 410 420 LGMKLRGLLD RKGSWKKLDD MQNIFWCHKT FTTKYVTEHW CEDHFFGYQY LNGVNPVMLH 430 440 450 460 470 480 CISSLPSKLP VTNDMVAPLL GQDTCLQTEL ERGNIFLADY WILAEAPTHC LNGRQQYVAA 490 500 510 520 530 540 PLCLLWLSPQ GALVPLAIQL SQTPGPDSPI FLPTDSEWDW LLAKTWVRNS EFLVHENNTH 550 560 570 580 590 600 FLCTHLLCEA FAMATLRQLP LCHPIYKLLL PHTRYTLQVN TIARATLLNP EGLVDQVTSI 610 620 630 640 650 660 GRQGLIYLMS TGLAHFTYTN FCLPDSLRAR GVLAIPNYHY RDDGLKIWAA IESFVSEIVG 670 680 690 700 710 720 YYYPSDASVQ QDSELQAWTG EIFAQAFLGR ESSGFPSRLC TPGEMVKFLT AIIFNCSAQH 730 740 750 760 770 780 AAVNSGQHDF GAWMPNAPSS MRQPPPQTKG TTTLKTYLDT LPEVNISCNN LLLFWLVSQE 790 800 810 820 830 840 PKDQRPLGTY PDEHFTEEAP RRSIAAFQSR LAQISRDIQE RNQGLALPYT YLDPPLIENS VSI

References

	« Hide 'large scale' referencesShow '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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[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] (ISOFORM 1).
[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. , 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Thalamus.
[4]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS NCIE SER-396 AND PHE-500.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ269499 mRNA. Translation: CAC12843.1. AJ305020 , AJ305021, AJ305023, AJ305025 Genomic DNA. Translation: CAC34518.1. AF182218 mRNA. Translation: AAG16899.1. AK296416 mRNA. Translation: BAH12346.1. AK313677 mRNA. Translation: BAG36428.1. CH471108 Genomic DNA. Translation: EAW90094.1. BC101938 mRNA. Translation: AAI01939.1. BC101939 mRNA. Translation: AAI01940.1. BC103508 mRNA. Translation: AAI03509.1. BC104724 mRNA. Translation: AAI04725.1.
IPI	IPI00946278.
RefSeq	NP_001159432.1. NM_001165960.1. NP_067641.2. NM_021628.2.
UniGene	Hs.232770.
3D structure databases
ProteinModelPortal	Q9BYJ1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000314879.
Polymorphism databases
DMDM	27923803.
Proteomic databases
PaxDb	Q9BYJ1.
PRIDE	Q9BYJ1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318227; ENSP00000314879; ENSG00000179148. ENST00000448843; ENSP00000400581; ENSG00000179148.
GeneID	59344.
KEGG	hsa:59344.
UCSC	uc010cnr.3. human.
Organism-specific databases
CTD	59344.
GeneCards	GC17M007999.
HGNC	HGNC:13743. ALOXE3.
HPA	HPA023120.
MIM	242100. phenotype. 607206. gene.
neXtProt	NX_Q9BYJ1.
Orphanet	79394. Congenital nonbullous ichthyosiform erythroderma. 281122. Self-healing collodion baby.
PharmGKB	PA24727.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG69653.
HOGENOM	HOG000234358.
HOVERGEN	HBG005150.
InParanoid	Q9BYJ1.
OrthoDB	EOG48SGSH.
PhylomeDB	Q9BYJ1.
Enzyme and pathway databases
UniPathway	UPA00880.
Gene expression databases
Bgee	Q9BYJ1.
CleanEx	HS_ALOXE3.
Genevestigator	Q9BYJ1.
GermOnline	ENSG00000179148. Homo sapiens.
Family and domain databases
Gene3D	2.60.60.20. 1 hit.
InterPro	IPR008976. Lipase_LipOase. IPR000907. LipOase. IPR013819. LipOase_C. IPR020834. LipOase_CS. IPR020833. LipOase_Fe_BS. IPR001024. LipOase_LH2. IPR001885. LipOase_mml. [Graphical view]
PANTHER	PTHR11771. PTHR11771. 1 hit.
Pfam	PF00305. Lipoxygenase. 1 hit. PF01477. PLAT. 1 hit. [Graphical view]
PRINTS	PR00087. LIPOXYGENASE. PR00467. MAMLPOXGNASE.
SMART	SM00308. LH2. 1 hit. [Graphical view]
SUPFAM	SSF49723. Lipase_LipOase. 1 hit. SSF48484. Lipoxygenase. 1 hit.
PROSITE	PS00711. LIPOXYGENASE_1. 1 hit. PS00081. LIPOXYGENASE_2. 1 hit. PS51393. LIPOXYGENASE_3. 1 hit. PS50095. PLAT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ALOXE3. human.
GenomeRNAi	59344.
NextBio	65242.
SOURCE	Search...

Entry information

Entry name

LOXE3_HUMAN

Accession

Primary (citable) accession number: Q9BYJ1
Secondary accession number(s): B2R981 , B7Z3W0, Q3ZB74, Q9H4F2, Q9HC22

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 27, 2003
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 107 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.