Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O15033 (AREL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Apoptosis-resistant E3 ubiquitin protein ligase 1

EC=6.3.2.-
Gene names
Name:AREL1
Synonyms:KIAA0317
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length823 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation. Ref.6

Pathway

Protein modification; protein ubiquitination. Ref.6

Subcellular location

Membrane; Single-pass membrane protein Potential. Cytoplasmcytosol Ref.6.

Sequence similarities

Contains 1 filamin repeat.

Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.

Sequence caution

The sequence BAA20775.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O15033-1)

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: O15033-2)

The sequence of this isoform differs from the canonical sequence as follows:
     790-823: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 823823Apoptosis-resistant E3 ubiquitin protein ligase 1
PRO_0000120349

Regions

Transmembrane2 – 2221Helical; Potential
Repeat52 – 158107Filamin
Domain483 – 823341HECT

Sites

Active site7901Glycyl thioester intermediate By similarity

Amino acid modifications

Glycosylation2101N-linked (GlcNAc...) Potential
Glycosylation3061N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence790 – 82334Missing in isoform 2.
VSP_013259

Experimental info

Mutagenesis7901C → A: Failure to form ubiquitin thioester complex and does not inhibit apoptosis. Ref.6
Sequence conflict1141T → N in AAH32944. Ref.5
Sequence conflict3731P → H in AAH32944. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 29, 2005. Version 3.
Checksum: 9E26273B529DB477

FASTA82394,223
        10         20         30         40         50         60 
MFYVIGGITV SVVAFFFTIK FLFELAARVV SFLQNEDRER RGDRTIYDYV RGNYLDPRSC 

        70         80         90        100        110        120 
KVSWDWKDPY EVGHSMAFRV HLFYKNGQPF PAHRPVGLRV HISHVELAVE IPVTQEVLQE 

       130        140        150        160        170        180 
PNSNVVKVAF TVRKAGRYEI TVKLGGLNVA YSPYYKIFQP GMVVPSKTKI VCHFSTLVLT 

       190        200        210        220        230        240 
CGQPHTLQIV PRDEYDNPTN NSMSLRDEHN YTLSIHELGP QEEESTGVSF EKSVTSNRQT 

       250        260        270        280        290        300 
FQVFLRLTLH SRGCFHACIS YQNQPINNGE FDIIVLSEDE KNIVERNVST SGVSIYFEAY 

       310        320        330        340        350        360 
LYNATNCSST PWHLPPMHMT SSQRRPSTAV DEEDEDSPSE CHTPEKVKKP KKVYCYVSPK 

       370        380        390        400        410        420 
QFSVKEFYLK IIPWRLYTFR VCPGTKFSYL GPDPVHKLLT LVVDDGIQPP VELSCKERNI 

       430        440        450        460        470        480 
LAATFIRSLH KNIGGSETFQ DKVNFFQREL RQVHMKRPHS KVTLKVSRHA LLESSLKATR 

       490        500        510        520        530        540 
NFSISDWSKN FEVVFQDEEA LDWGGPRREW FELICKALFD TTNQLFTRFS DNNQALVHPN 

       550        560        570        580        590        600 
PNRPAHLRLK MYEFAGRLVG KCLYESSLGG AYKQLVRARF TRSFLAQIIG LRMHYKYFET 

       610        620        630        640        650        660 
DDPEFYKSKV CFILNNDMSE MELVFAEEKY NKSGQLDKVV ELMTGGAQTP VTNANKIFYL 

       670        680        690        700        710        720 
NLLAQYRLAS QVKEEVEHFL KGLNELVPEN LLAIFDENEL ELLMCGTGDI SVSDFKAHAV 

       730        740        750        760        770        780 
VVGGSWHFRE KVMRWFWTVV SSLTQEELAR LLQFTTGSSQ LPPGGFAALC PSFQIIAAPT 

       790        800        810        820 
HSTLPTAHTC FNQLCLPTYD SYEEVHRMLQ LAISEGCEGF GML 

« Hide

Isoform 2 [UniParc].

Checksum: E0E0ACB18FEF96D1
Show »

FASTA78990,342

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Trachea.
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.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. expand/collapse author list , 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 (JUL-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 2).
Tissue: Testis.
[6]"Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS."
Kim J.B., Kim S.Y., Kim B.M., Lee H., Kim I., Yun J., Jo Y., Oh T., Jo Y., Chae H.D., Shin D.Y.
J. Biol. Chem. 288:12014-12021(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, PATHWAY, SUBCELLULAR LOCATION, MUTAGENESIS OF CYS-790.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB002315 mRNA. Translation: BAA20775.2. Different initiation.
AK304217 mRNA. Translation: BAG65089.1.
AC007956 Genomic DNA. Translation: AAF61276.1.
CH471061 Genomic DNA. Translation: EAW81186.1.
BC032944 mRNA. Translation: AAH32944.1.
RefSeqNP_001034568.1. NM_001039479.1.
UniGeneHs.497417.

3D structure databases

ProteinModelPortalO15033.
SMRO15033. Positions 56-160, 435-820.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115203. 8 interactions.
IntActO15033. 3 interactions.
MINTMINT-4657782.

PTM databases

PhosphoSiteO15033.

Proteomic databases

PaxDbO15033.
PRIDEO15033.

Protocols and materials databases

DNASU9870.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356357; ENSP00000348714; ENSG00000119682. [O15033-1]
GeneID9870.
KEGGhsa:9870.
UCSCuc001xqb.3. human. [O15033-1]

Organism-specific databases

CTD9870.
GeneCardsGC14M075120.
HGNCHGNC:20363. AREL1.
HPAHPA051306.
MIM615380. gene.
neXtProtNX_O15033.
PharmGKBPA134985474.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5021.
HOGENOMHOG000008177.
HOVERGENHBG052181.
InParanoidO15033.
OMACGTGDIN.
OrthoDBEOG7DFXBH.
PhylomeDBO15033.
TreeFamTF323417.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressO15033.
BgeeO15033.
CleanExHS_KIAA0317.
GenevestigatorO15033.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR017868. Filamin/ABP280_repeat-like.
IPR001298. Filamin/ABP280_rpt.
IPR000569. HECT.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
[Graphical view]
PfamPF00630. Filamin. 1 hit.
PF00632. HECT. 1 hit.
[Graphical view]
SMARTSM00119. HECTc. 1 hit.
SM00557. IG_FLMN. 1 hit.
[Graphical view]
SUPFAMSSF56204. SSF56204. 1 hit.
SSF81296. SSF81296. 1 hit.
PROSITEPS50194. FILAMIN_REPEAT. 1 hit.
PS50237. HECT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi9870.
NextBio37207.
SOURCESearch...

Entry information

Entry nameAREL1_HUMAN
AccessionPrimary (citable) accession number: O15033
Secondary accession number(s): B4E2C7, Q7LDY1, Q8IYY9
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 29, 2005
Last modified: April 16, 2014
This is version 99 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

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

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM