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O15033

- AREL1_HUMAN

UniProt

O15033 - AREL1_HUMAN

Protein

Apoptosis-resistant E3 ubiquitin protein ligase 1

Gene

AREL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 3 (29 Mar 2005)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei790 – 7901Glycyl thioester intermediate1 PublicationPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ligase activity Source: UniProtKB-KW
    2. ubiquitin-protein transferase activity Source: UniProtKB

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW
    2. negative regulation of apoptotic process Source: UniProtKB
    3. protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Ligase

    Keywords - Biological processi

    Apoptosis, Ubl conjugation pathway

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Apoptosis-resistant E3 ubiquitin protein ligase 1 (EC:6.3.2.-)
    Gene namesi
    Name:AREL1
    Synonyms:KIAA0317
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20363. AREL1.

    Subcellular locationi

    Cytoplasmcytosol 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: RefGenome
    2. cytosol Source: UniProtKB
    3. nucleus Source: RefGenome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi790 – 7901C → A: Failure to form ubiquitin thioester complex and does not inhibit apoptosis. 1 Publication

    Organism-specific databases

    PharmGKBiPA134985474.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 823823Apoptosis-resistant E3 ubiquitin protein ligase 1PRO_0000120349Add
    BLAST

    Post-translational modificationi

    Autoubiquitinated in vitro in the presence of E2 enzyme UBE2D1/UBCH5A.1 Publication

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    MaxQBiO15033.
    PaxDbiO15033.
    PRIDEiO15033.

    PTM databases

    PhosphoSiteiO15033.

    Expressioni

    Gene expression databases

    ArrayExpressiO15033.
    BgeeiO15033.
    CleanExiHS_KIAA0317.
    GenevestigatoriO15033.

    Organism-specific databases

    HPAiHPA051306.

    Interactioni

    Protein-protein interaction databases

    BioGridi115203. 8 interactions.
    IntActiO15033. 3 interactions.
    MINTiMINT-4657782.

    Structurei

    3D structure databases

    ProteinModelPortaliO15033.
    SMRiO15033. Positions 123-155, 435-820.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati52 – 158107FilaminAdd
    BLAST
    Domaini483 – 823341HECTPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 filamin repeat.PROSITE-ProRule annotation
    Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5021.
    HOGENOMiHOG000008177.
    HOVERGENiHBG052181.
    InParanoidiO15033.
    OMAiGTGDINV.
    OrthoDBiEOG7DFXBH.
    PhylomeDBiO15033.
    TreeFamiTF323417.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR017868. Filamin/ABP280_repeat-like.
    IPR001298. Filamin/ABP280_rpt.
    IPR000569. HECT.
    IPR013783. Ig-like_fold.
    IPR014756. Ig_E-set.
    [Graphical view]
    PfamiPF00630. Filamin. 1 hit.
    PF00632. HECT. 1 hit.
    [Graphical view]
    SMARTiSM00119. HECTc. 1 hit.
    SM00557. IG_FLMN. 1 hit.
    [Graphical view]
    SUPFAMiSSF56204. SSF56204. 1 hit.
    SSF81296. SSF81296. 1 hit.
    PROSITEiPS50194. FILAMIN_REPEAT. 1 hit.
    PS50237. HECT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15033-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MFYVIGGITV SVVAFFFTIK FLFELAARVV SFLQNEDRER RGDRTIYDYV    50
    RGNYLDPRSC KVSWDWKDPY EVGHSMAFRV HLFYKNGQPF PAHRPVGLRV 100
    HISHVELAVE IPVTQEVLQE PNSNVVKVAF TVRKAGRYEI TVKLGGLNVA 150
    YSPYYKIFQP GMVVPSKTKI VCHFSTLVLT CGQPHTLQIV PRDEYDNPTN 200
    NSMSLRDEHN YTLSIHELGP QEEESTGVSF EKSVTSNRQT FQVFLRLTLH 250
    SRGCFHACIS YQNQPINNGE FDIIVLSEDE KNIVERNVST SGVSIYFEAY 300
    LYNATNCSST PWHLPPMHMT SSQRRPSTAV DEEDEDSPSE CHTPEKVKKP 350
    KKVYCYVSPK QFSVKEFYLK IIPWRLYTFR VCPGTKFSYL GPDPVHKLLT 400
    LVVDDGIQPP VELSCKERNI LAATFIRSLH KNIGGSETFQ DKVNFFQREL 450
    RQVHMKRPHS KVTLKVSRHA LLESSLKATR NFSISDWSKN FEVVFQDEEA 500
    LDWGGPRREW FELICKALFD TTNQLFTRFS DNNQALVHPN PNRPAHLRLK 550
    MYEFAGRLVG KCLYESSLGG AYKQLVRARF TRSFLAQIIG LRMHYKYFET 600
    DDPEFYKSKV CFILNNDMSE MELVFAEEKY NKSGQLDKVV ELMTGGAQTP 650
    VTNANKIFYL NLLAQYRLAS QVKEEVEHFL KGLNELVPEN LLAIFDENEL 700
    ELLMCGTGDI SVSDFKAHAV VVGGSWHFRE KVMRWFWTVV SSLTQEELAR 750
    LLQFTTGSSQ LPPGGFAALC PSFQIIAAPT HSTLPTAHTC FNQLCLPTYD 800
    SYEEVHRMLQ LAISEGCEGF GML 823
    Length:823
    Mass (Da):94,223
    Last modified:March 29, 2005 - v3
    Checksum:i9E26273B529DB477
    GO
    Isoform 2 (identifier: O15033-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         790-823: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:789
    Mass (Da):90,342
    Checksum:iE0E0ACB18FEF96D1
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti114 – 1141T → N in AAH32944. (PubMed:15489334)Curated
    Sequence conflicti373 – 3731P → H in AAH32944. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei790 – 82334Missing in isoform 2. 1 PublicationVSP_013259Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS41971.1. [O15033-1]
    RefSeqiNP_001034568.1. NM_001039479.1. [O15033-1]
    UniGeneiHs.497417.

    Genome annotation databases

    EnsembliENST00000356357; ENSP00000348714; ENSG00000119682. [O15033-1]
    GeneIDi9870.
    KEGGihsa:9870.
    UCSCiuc001xqb.3. human. [O15033-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS41971.1. [O15033-1 ]
    RefSeqi NP_001034568.1. NM_001039479.1. [O15033-1 ]
    UniGenei Hs.497417.

    3D structure databases

    ProteinModelPortali O15033.
    SMRi O15033. Positions 123-155, 435-820.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115203. 8 interactions.
    IntActi O15033. 3 interactions.
    MINTi MINT-4657782.

    PTM databases

    PhosphoSitei O15033.

    Proteomic databases

    MaxQBi O15033.
    PaxDbi O15033.
    PRIDEi O15033.

    Protocols and materials databases

    DNASUi 9870.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356357 ; ENSP00000348714 ; ENSG00000119682 . [O15033-1 ]
    GeneIDi 9870.
    KEGGi hsa:9870.
    UCSCi uc001xqb.3. human. [O15033-1 ]

    Organism-specific databases

    CTDi 9870.
    GeneCardsi GC14M075120.
    HGNCi HGNC:20363. AREL1.
    HPAi HPA051306.
    MIMi 615380. gene.
    neXtProti NX_O15033.
    PharmGKBi PA134985474.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5021.
    HOGENOMi HOG000008177.
    HOVERGENi HBG052181.
    InParanoidi O15033.
    OMAi GTGDINV.
    OrthoDBi EOG7DFXBH.
    PhylomeDBi O15033.
    TreeFami TF323417.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GenomeRNAii 9870.
    NextBioi 37207.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15033.
    Bgeei O15033.
    CleanExi HS_KIAA0317.
    Genevestigatori O15033.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR017868. Filamin/ABP280_repeat-like.
    IPR001298. Filamin/ABP280_rpt.
    IPR000569. HECT.
    IPR013783. Ig-like_fold.
    IPR014756. Ig_E-set.
    [Graphical view ]
    Pfami PF00630. Filamin. 1 hit.
    PF00632. HECT. 1 hit.
    [Graphical view ]
    SMARTi SM00119. HECTc. 1 hit.
    SM00557. IG_FLMN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56204. SSF56204. 1 hit.
    SSF81296. SSF81296. 1 hit.
    PROSITEi PS50194. FILAMIN_REPEAT. 1 hit.
    PS50237. HECT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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, ACTIVE SITE, AUTOUBIQUITINATION, MUTAGENESIS OF CYS-790.

    Entry informationi

    Entry nameiAREL1_HUMAN
    AccessioniPrimary (citable) accession number: O15033
    Secondary accession number(s): B4E2C7, Q7LDY1, Q8IYY9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2005
    Last sequence update: March 29, 2005
    Last modified: October 1, 2014
    This is version 104 of the entry and version 3 of the sequence. [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 chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3