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O15033

- AREL1_HUMAN

UniProt

O15033 - AREL1_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO15033.
CleanExiHS_KIAA0317.
ExpressionAtlasiO15033. baseline and differential.
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 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.
GeneTreeiENSGT00760000118966.
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

        10         20         30         40         50
MFYVIGGITV SVVAFFFTIK FLFELAARVV SFLQNEDRER RGDRTIYDYV
60 70 80 90 100
RGNYLDPRSC KVSWDWKDPY EVGHSMAFRV HLFYKNGQPF PAHRPVGLRV
110 120 130 140 150
HISHVELAVE IPVTQEVLQE PNSNVVKVAF TVRKAGRYEI TVKLGGLNVA
160 170 180 190 200
YSPYYKIFQP GMVVPSKTKI VCHFSTLVLT CGQPHTLQIV PRDEYDNPTN
210 220 230 240 250
NSMSLRDEHN YTLSIHELGP QEEESTGVSF EKSVTSNRQT FQVFLRLTLH
260 270 280 290 300
SRGCFHACIS YQNQPINNGE FDIIVLSEDE KNIVERNVST SGVSIYFEAY
310 320 330 340 350
LYNATNCSST PWHLPPMHMT SSQRRPSTAV DEEDEDSPSE CHTPEKVKKP
360 370 380 390 400
KKVYCYVSPK QFSVKEFYLK IIPWRLYTFR VCPGTKFSYL GPDPVHKLLT
410 420 430 440 450
LVVDDGIQPP VELSCKERNI LAATFIRSLH KNIGGSETFQ DKVNFFQREL
460 470 480 490 500
RQVHMKRPHS KVTLKVSRHA LLESSLKATR NFSISDWSKN FEVVFQDEEA
510 520 530 540 550
LDWGGPRREW FELICKALFD TTNQLFTRFS DNNQALVHPN PNRPAHLRLK
560 570 580 590 600
MYEFAGRLVG KCLYESSLGG AYKQLVRARF TRSFLAQIIG LRMHYKYFET
610 620 630 640 650
DDPEFYKSKV CFILNNDMSE MELVFAEEKY NKSGQLDKVV ELMTGGAQTP
660 670 680 690 700
VTNANKIFYL NLLAQYRLAS QVKEEVEHFL KGLNELVPEN LLAIFDENEL
710 720 730 740 750
ELLMCGTGDI SVSDFKAHAV VVGGSWHFRE KVMRWFWTVV SSLTQEELAR
760 770 780 790 800
LLQFTTGSSQ LPPGGFAALC PSFQIIAAPT HSTLPTAHTC FNQLCLPTYD
810 820
SYEEVHRMLQ LAISEGCEGF GML
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.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 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.
GeneTreei ENSGT00760000118966.
HOGENOMi HOG000008177.
HOVERGENi HBG052181.
InParanoidi O15033.
OMAi GTGDINV.
OrthoDBi EOG7DFXBH.
PhylomeDBi O15033.
TreeFami TF323417.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

ChiTaRSi AREL1. human.
GenomeRNAii 9870.
NextBioi 37207.
SOURCEi Search...

Gene expression databases

Bgeei O15033.
CleanExi HS_KIAA0317.
ExpressionAtlasi O15033. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 106 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