2024-04-26 12:21:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001006610 2393 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens siah E3 ubiquitin protein ligase 1 (SIAH1), transcript variant 2, mRNA. ACCESSION NM_001006610 VERSION NM_001006610.1 GI:55749556 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2393) AUTHORS Kitagawa,N., Kondo,S., Wakisaka,N., Zen,Y., Nakanishi,Y., Tsuji,A., Endo,K., Murono,S. and Yoshizaki,T. TITLE Expression of seven-in-absentia homologue 1 and hypoxia-inducible factor 1 alpha: novel prognostic factors of nasopharyngeal carcinoma JOURNAL Cancer Lett. 331 (1), 52-57 (2013) PUBMED 23228635 REMARK GeneRIF: High expression of seven-in-absentia homologue 1 is associated with nasopharyngeal carcinoma. REFERENCE 2 (bases 1 to 2393) AUTHORS Velasco,K., Zhao,B., Callegari,S., Altun,M., Liu,H., Hassink,G., Masucci,M.G. and Lindsten,K. TITLE An N-terminal SIAH-interacting motif regulates the stability of the ubiquitin specific protease (USP)-19 JOURNAL Biochem. Biophys. Res. Commun. 433 (4), 390-395 (2013) PUBMED 23500468 REMARK GeneRIF: USP19 interacts with the ubiquitin ligases SIAH1 and SIAH2, which promote USP19 ubiquitylation and degradation by the proteasome. REFERENCE 3 (bases 1 to 2393) AUTHORS Ko,S.J., Isozaki,K., Kim,I., Lee,J.H., Cho,H.J., Sohn,S.Y., Oh,S.R., Park,S., Kim,D.G., Kim,C.H. and Roche,K.W. TITLE PKC phosphorylation regulates mGluR5 trafficking by enhancing binding of Siah-1A JOURNAL J. Neurosci. 32 (46), 16391-16401 (2012) PUBMED 23152621 REMARK GeneRIF: Calmodulin-regulated Siah-1A binding to mGluR5 dynamically regulates mGluR5 trafficking REFERENCE 4 (bases 1 to 2393) AUTHORS Liu,M., Hsu,J., Chan,C., Li,Z. and Zhou,Q. TITLE The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription JOURNAL Mol. Cell 46 (3), 325-334 (2012) PUBMED 22483617 REMARK GeneRIF: Siah1 is the E3 ubiquitin ligase for ELL2 polyubiquitination and proteasomal degradation. REFERENCE 5 (bases 1 to 2393) AUTHORS Pietschmann,K., Buchwald,M., Muller,S., Knauer,S.K., Kogl,M., Heinzel,T. and Kramer,O.H. TITLE Differential regulation of PML-RARalpha stability by the ubiquitin ligases SIAH1/SIAH2 and TRIAD1 JOURNAL Int. J. Biochem. Cell Biol. 44 (1), 132-138 (2012) PUBMED 22037423 REMARK GeneRIF: In sharp contrast to SIAH1/SIAH2 and UBCH8, TRIAD1 binding to PML-RARalpha has no effect on its turnover. REFERENCE 6 (bases 1 to 2393) AUTHORS Block,K.L., Vornlocher,H.P. and Hershey,J.W. TITLE Characterization of cDNAs encoding the p44 and p35 subunits of human translation initiation factor eIF3 JOURNAL J. Biol. Chem. 273 (48), 31901-31908 (1998) PUBMED 9822659 REFERENCE 7 (bases 1 to 2393) AUTHORS Matsuzawa,S., Takayama,S., Froesch,B.A., Zapata,J.M. and Reed,J.C. TITLE p53-inducible human homologue of Drosophila seven in absentia (Siah) inhibits cell growth: suppression by BAG-1 JOURNAL EMBO J. 17 (10), 2736-2747 (1998) PUBMED 9582267 REFERENCE 8 (bases 1 to 2393) AUTHORS Hu,G., Chung,Y.L., Glover,T., Valentine,V., Look,A.T. and Fearon,E.R. TITLE Characterization of human homologs of the Drosophila seven in absentia (sina) gene JOURNAL Genomics 46 (1), 103-111 (1997) PUBMED 9403064 REFERENCE 9 (bases 1 to 2393) AUTHORS Hu,G., Zhang,S., Vidal,M., Baer,J.L., Xu,T. and Fearon,E.R. TITLE Mammalian homologs of seven in absentia regulate DCC via the ubiquitin-proteasome pathway JOURNAL Genes Dev. 11 (20), 2701-2714 (1997) PUBMED 9334332 REFERENCE 10 (bases 1 to 2393) AUTHORS Nemani,M., Linares-Cruz,G., Bruzzoni-Giovanelli,H., Roperch,J.P., Tuynder,M., Bougueleret,L., Cherif,D., Medhioub,M., Pasturaud,P., Alvaro,V., der Sarkissan,H., Cazes,L., Le Paslier,D., Le Gall,I., Israeli,D., Dausset,J., Sigaux,F., Chumakov,I., Oren,M., Calvo,F., Amson,R.B., Cohen,D. and Telerman,A. TITLE Activation of the human homologue of the Drosophila sina gene in apoptosis and tumor suppression JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (17), 9039-9042 (1996) PUBMED 8799150 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CN360509.1, BC042550.1, BX357983.2 and BX647064.1. Summary: This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) includes an alternate 5' exon and uses an upstream AUG compared to variant 1. The resulting protein (isoform b) is longer and has a distinct N-terminus compared to isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC042550.1, AK313861.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-30 CN360509.1 26-55 31-299 BC042550.1 1-269 300-302 BX357983.2 329-331 303-2372 BC042550.1 273-2342 2373-2393 BX647064.1 2946-2966 FEATURES Location/Qualifiers source 1..2393 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q12.1" gene 1..2393 /gene="SIAH1" /gene_synonym="SIAH1A" /note="siah E3 ubiquitin protein ligase 1" /db_xref="GeneID:6477" /db_xref="HGNC:10857" /db_xref="HPRD:03736" /db_xref="MIM:602212" exon 1..487 /gene="SIAH1" /gene_synonym="SIAH1A" /inference="alignment:Splign:1.39.8" misc_feature 388..390 /gene="SIAH1" /gene_synonym="SIAH1A" /note="upstream in-frame stop codon" CDS 397..1338 /gene="SIAH1" /gene_synonym="SIAH1A" /EC_number="6.3.2.-" /note="isoform b is encoded by transcript variant 2; E3 ubiquitin-protein ligase SIAH1; seven in absentia homolog 1; siah-1a" /codon_start=1 /product="E3 ubiquitin-protein ligase SIAH1 isoform b" /protein_id="NP_001006611.1" /db_xref="GI:55749557" /db_xref="CCDS:CCDS32444.1" /db_xref="GeneID:6477" /db_xref="HGNC:10857" /db_xref="HPRD:03736" /db_xref="MIM:602212" /translation="
MTGKATPPSLYSWRGVLFTCLPAARTRKRKEMSRQTATALPTGTSKCPPSQRVPALTGTTASNNDLASLFECPVCFDYVLPPILQCQSGHLVCSNCRPKLTCCPTCRGPLGSIRNLAMEKVANSVLFPCKYASSGCEITLPHTEKADHEELCEFRPYSCPCPGASCKWQGSLDAVMPHLMHQHKSITTLQGEDIVFLATDINLPGAVDWVMMQSCFGFHFMLVLEKQEKYDGHQQFFAIVQLIGTRKQAENFAYRLELNGHRRRLTWEATPRSIHEGIATAIMNSDCLVFDTSIAQLFAENGNLGINVTISMC
" misc_feature 604..717 /gene="SIAH1" /gene_synonym="SIAH1A" /note="Zinc finger, C3HC4 type (RING finger); Region: zf-C3HC4_2; pfam13923" /db_xref="CDD:206094" misc_feature 733..1323 /gene="SIAH1" /gene_synonym="SIAH1A" /note="Seven in absentia protein family; Region: Sina; pfam03145" /db_xref="CDD:190542" misc_feature 952..1332 /gene="SIAH1" /gene_synonym="SIAH1A" /note="Seven in absentia (Sina) protein family, C-terminal substrate binding domain; composed of the Drosophila Sina protein, the mammalian Sina homolog (Siah), the plant protein SINAT5, and similar proteins. Sina, Siah and SINAT5 are RING-containing proteins...; Region: Sina; cd03829" /db_xref="CDD:63889" misc_feature order(973..981,985..987,991..993,1018..1023) /gene="SIAH1" /gene_synonym="SIAH1A" /note="substrate binding site [chemical binding]; other site" /db_xref="CDD:63889" misc_feature order(1144..1146,1180..1200,1204..1206,1249..1254, 1273..1275,1285..1287) /gene="SIAH1" /gene_synonym="SIAH1A" /note="dimer interface [polypeptide binding]; other site" /db_xref="CDD:63889" exon 488..2387 /gene="SIAH1" /gene_synonym="SIAH1A" /inference="alignment:Splign:1.39.8" STS 494..1121 /gene="SIAH1" /gene_synonym="SIAH1A" /standard_name="PMC149152P1" /db_xref="UniSTS:271027" STS 1245..1938 /gene="SIAH1" /gene_synonym="SIAH1A" /standard_name="SIAH1_2345" /db_xref="UniSTS:280995" variation 1279 /gene="SIAH1" /gene_synonym="SIAH1A" /replace="g" /replace="t" /db_xref="dbSNP:1060155" STS 1526..1751 /gene="SIAH1" /gene_synonym="SIAH1A" /standard_name="RH68358" /db_xref="UniSTS:48689" variation 2048 /gene="SIAH1" /gene_synonym="SIAH1A" /replace="c" /replace="t" /db_xref="dbSNP:1060181" STS 2131..2292 /gene="SIAH1" /gene_synonym="SIAH1A" /standard_name="G20682" /db_xref="UniSTS:20485" STS 2131..2292 /gene="SIAH1" /gene_synonym="SIAH1A" /standard_name="RH17142" /db_xref="UniSTS:85949" variation 2203 /gene="SIAH1" /gene_synonym="SIAH1A" /replace="a" /replace="g" /db_xref="dbSNP:8190" variation 2212 /gene="SIAH1" /gene_synonym="SIAH1A" /replace="a" /replace="g" /db_xref="dbSNP:12883" polyA_signal 2358..2363 /gene="SIAH1" /gene_synonym="SIAH1A" polyA_signal 2378..2383 /gene="SIAH1" /gene_synonym="SIAH1A" polyA_site 2387 /gene="SIAH1" /gene_synonym="SIAH1A" ORIGIN
gctggctcagggagcgcacttccttctcagccagcgcgtcgccccctgcatccgtggcctccactggagctgggcaggaccctacccagtgaatctggagaaaacaaacttgggagacagacgaaagcttagggcacattggaggacagcgcagctgtggctcccatttttggagatgcagtcgaatttgagctcacagggaggtgtggttgcctcctggggatggaaaggcttcctttctccacctctgtaactggtgcttctgagaagtaaatggtatttggatcctgacctcagacgcgaatttgggtcttctgtgcttaggagcagaaagagcccaggaggggcctgttcctttacttcttgggggaaacgcaatgcgtggcctgacttctcatgacgggaaaggctactccaccttctctgtactcctggaggggagtcttgttcacatgtttaccagcggccaggacaaggaagagaaaagaaatgagccgtcagactgctacagcattacctaccggtacctcgaagtgtccaccatcccagagggtgcctgccctgactggcacaactgcatccaacaatgacttggcgagtctttttgagtgtccagtctgctttgactatgtgttaccgcccattcttcaatgtcagagtggccatcttgtttgtagcaactgtcgcccaaagctcacatgttgtccaacttgccggggccctttgggatccattcgcaacttggctatggagaaagtggctaattcagtacttttcccctgtaaatatgcgtcttctggatgtgaaataactctgccacacacagaaaaagcagaccatgaagagctctgtgagtttaggccttattcctgtccgtgccctggtgcttcctgtaaatggcaaggctctctggatgctgtaatgccccatctgatgcatcagcataagtccattacaaccctacagggagaggatatagtttttcttgctacagacattaatcttcctggtgctgttgactgggtgatgatgcagtcctgttttggctttcacttcatgttagtcttagagaaacaggaaaaatacgatggtcaccagcagttcttcgcaatcgtacagctgataggaacacgcaagcaagctgaaaattttgcttaccgacttgagctaaatggtcataggcgacgattgacttgggaagcgactcctcgatctattcatgaaggaattgcaacagccattatgaatagcgactgtctagtctttgacaccagcattgcacagctttttgcagaaaatggcaatttaggcatcaatgtaactatttccatgtgttgaaatggcaatcaaacattttctggccagtgtttaaaacttcagtttcacagaaaataaggcacccatctgtctgccaacctaaaactctttcggtaggtggaagctagacacatgaaggtaaataaaaagaaaggctgttaaatacaggaaacagttgcatgtagtaacactaatatatttaaaaataagtcaacagtaaaccactgaaaaaatatatgtatatacacccaagatgggcatcttttgtattaagaaaggaagcattgtaaaataattctgagttttgtgtttgttgtagattgattgtattgttgaaaaagtttgtttttgcgtgggagtgtgtgcctgcgtgggtgtgtgcgtgtttgggtttttttcctttaactgacaagccatcttgagtggtcatgggccactgcttttccctttgtgagtcaatacatagtgctgctgtgtgctttttttgtgtgtatttgctaatttttattaattttagtttttcattaaataaatttgacttttctgtaattcaggtttttcctttttttgtaccattttaaagttagtatcttttgatatgcatatttgtttatggtaaaaaatttataacgtgttcaatattttcttttcccccattaatcagttcattagaaatattttaaaatcagctattttgtgaagccatgagttccagaaagtaaaggtgacatcggaaaaataatcaaaagctatttaaagcatctataaggtgctctctttctgtcttctacagatgagtcacacctttgagcttaatctttgaaaggttagagaataaattgatttttataaatactgcaaatcaggcttttgtttcctttttcagatatcttggacaaatcacatattttaaaatttgttcttgtatttattggttttgcagaagaaggcatcgtcatgcacagtatttgtaattaaaagcaaatcatttgtttaaaaaggcagtttgcaaaaaatgtttttggtcttttataattctcattaaaagaatatctggcaaattaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:6477 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IMP GeneID:6477 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: ISS GeneID:6477 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:6477 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IPI GeneID:6477 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IDA GeneID:6477 -> Molecular function: GO:0008270 [zinc ion binding] evidence: ISS GeneID:6477 -> Biological process: GO:0006508 [proteolysis] evidence: TAS GeneID:6477 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:6477 -> Biological process: GO:0007049 [cell cycle] evidence: IEA GeneID:6477 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA GeneID:6477 -> Biological process: GO:0007399 [nervous system development] evidence: TAS GeneID:6477 -> Biological process: GO:0007411 [axon guidance] evidence: TAS GeneID:6477 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS GeneID:6477 -> Biological process: GO:0030163 [protein catabolic process] evidence: IDA GeneID:6477 -> Biological process: GO:0031648 [protein destabilization] evidence: IEA GeneID:6477 -> Biological process: GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] evidence: ISS GeneID:6477 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IDA GeneID:6477 -> Biological process: GO:0043161 [proteasomal ubiquitin-dependent protein catabolic process] evidence: ISS GeneID:6477 -> Biological process: GO:0051402 [neuron apoptotic process] evidence: ISS GeneID:6477 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP GeneID:6477 -> Cellular component: GO:0005634 [nucleus] evidence: ISS GeneID:6477 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS GeneID:6477 -> Cellular component: GO:0005769 [early endosome] evidence: IEA GeneID:6477 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:6477 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:6477 -> Cellular component: GO:0030877 [beta-catenin destruction complex] evidence: IDA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001006611 -> EC 6.3.2.-
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.