SIAH3_HUMAN
ID SIAH3_HUMAN Reviewed; 269 AA.
AC Q8IW03; B7ZBP0; Q8N8M6;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Seven in absentia homolog 3;
DE Short=Siah-3;
GN Name=SIAH3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hippocampus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-204.
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=24270810; DOI=10.1038/nature12748;
RA Hasson S.A., Kane L.A., Yamano K., Huang C.H., Sliter D.A., Buehler E.,
RA Wang C., Heman-Ackah S.M., Hessa T., Guha R., Martin S.E., Youle R.J.;
RT "High-content genome-wide RNAi screens identify regulators of parkin
RT upstream of mitophagy.";
RL Nature 504:291-295(2013).
CC -!- FUNCTION: Negative regulator of PRKN translocation to damaged
CC mitochondria. Acts probably by destabilizing PINK1 protein, hence
CC inhibiting PRKN targeting to dysfunctional depolarized mitochondria.
CC {ECO:0000269|PubMed:24270810}.
CC -!- INTERACTION:
CC Q8IW03; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-12880872, EBI-11962084;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24270810}.
CC -!- SIMILARITY: Belongs to the SINA (Seven in absentia) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH41372.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC04809.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from chromosomes 13 and 19.; Evidence={ECO:0000305};
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DR EMBL; AL157819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC041372; AAH41372.2; ALT_INIT; mRNA.
DR EMBL; AK096522; BAC04809.1; ALT_SEQ; mRNA.
DR CCDS; CCDS41883.1; -.
DR RefSeq; NP_942146.2; NM_198849.2.
DR AlphaFoldDB; Q8IW03; -.
DR SMR; Q8IW03; -.
DR BioGRID; 129590; 2.
DR IntAct; Q8IW03; 1.
DR STRING; 9606.ENSP00000383256; -.
DR BioMuta; SIAH3; -.
DR DMDM; 189046787; -.
DR PaxDb; Q8IW03; -.
DR PRIDE; Q8IW03; -.
DR Antibodypedia; 53015; 90 antibodies from 14 providers.
DR DNASU; 283514; -.
DR Ensembl; ENST00000400405.4; ENSP00000383256.2; ENSG00000215475.5.
DR GeneID; 283514; -.
DR KEGG; hsa:283514; -.
DR MANE-Select; ENST00000400405.4; ENSP00000383256.2; NM_198849.3; NP_942146.2.
DR UCSC; uc001vap.4; human.
DR CTD; 283514; -.
DR DisGeNET; 283514; -.
DR GeneCards; SIAH3; -.
DR HGNC; HGNC:30553; SIAH3.
DR HPA; ENSG00000215475; Tissue enhanced (brain, fallopian tube).
DR MIM; 615609; gene.
DR neXtProt; NX_Q8IW03; -.
DR OpenTargets; ENSG00000215475; -.
DR PharmGKB; PA164725697; -.
DR VEuPathDB; HostDB:ENSG00000215475; -.
DR eggNOG; KOG3002; Eukaryota.
DR GeneTree; ENSGT00940000161772; -.
DR HOGENOM; CLU_093890_0_0_1; -.
DR InParanoid; Q8IW03; -.
DR OMA; AQVTPCM; -.
DR OrthoDB; 780610at2759; -.
DR PhylomeDB; Q8IW03; -.
DR TreeFam; TF312976; -.
DR PathwayCommons; Q8IW03; -.
DR SignaLink; Q8IW03; -.
DR BioGRID-ORCS; 283514; 10 hits in 1109 CRISPR screens.
DR GenomeRNAi; 283514; -.
DR Pharos; Q8IW03; Tdark.
DR PRO; PR:Q8IW03; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8IW03; protein.
DR Bgee; ENSG00000215475; Expressed in cortical plate and 57 other tissues.
DR Genevisible; Q8IW03; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:ParkinsonsUK-UCL.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0031624; F:ubiquitin conjugating enzyme binding; IBA:GO_Central.
DR GO; GO:0061630; F:ubiquitin protein ligase activity; IBA:GO_Central.
DR GO; GO:1903215; P:negative regulation of protein targeting to mitochondrion; IDA:ParkinsonsUK-UCL.
DR GO; GO:0043161; P:proteasome-mediated ubiquitin-dependent protein catabolic process; IBA:GO_Central.
DR GO; GO:0031647; P:regulation of protein stability; IMP:ParkinsonsUK-UCL.
DR Gene3D; 2.60.210.10; -; 1.
DR InterPro; IPR018121; 7-in-absentia-prot_TRAF-dom.
DR InterPro; IPR004162; SINA-like_animal.
DR InterPro; IPR008974; TRAF-like.
DR PANTHER; PTHR45877; PTHR45877; 1.
DR Pfam; PF03145; Sina; 1.
PE 1: Evidence at protein level;
KW Metal-binding; Mitochondrion; Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1..269
FT /note="Seven in absentia homolog 3"
FT /id="PRO_0000334701"
FT ZN_FING 61..132
FT /note="SIAH-type; degenerate"
FT BINDING 107
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000250"
FT BINDING 114
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000250"
FT BINDING 126
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000250"
FT BINDING 131
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000250"
SQ SEQUENCE 269 AA; 30660 MW; 7006A263D374F973 CRC64;
MLFFTQCFGA VLDLIHLRFQ HYKAKRVFSA AGQLVCVVNP THNLKYVSSR RAVTQSAPEQ
GSFHPHHLSH HHCHHRHHHH LRHHAHPHHL HHQEAGLHAN PVTPCLCMCP LFSCQWEGRL
EVVVPHLRQI HRVDILQGAE IVFLATDMHL PAPADWIIMH SCLGHHFLLV LRKQERHEGH
PQFFATMMLI GTPTQADCFT YRLELNRNHR RLKWEATPRS VLECVDSVIT DGDCLVLNTS
LAQLFSDNGS LAIGIAITAT EVLPSEAEM
