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2024-04-25 19:25:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003031 2003 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens siah E3 ubiquitin protein ligase 1 (SIAH1), transcript
variant 1, mRNA.
ACCESSION NM_003031 NM_001006611
VERSION NM_003031.3 GI:63148617
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 2003)
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 2003)
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 2003)
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 2003)
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 2003)
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 2003)
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 2003)
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 2003)
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 2003)
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 2003)
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 BC035562.1 and BC018193.1.
This sequence is a reference standard in the RefSeqGene project.
On or before May 11, 2005 this sequence version replaced
gi:55749566, gi:40254443.
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 (1) encodes the smaller isoform
(1).
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 :: BC035562.1, BC018193.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1492 BC035562.1 1-1492
1493-2003 BC018193.1 1481-1991
FEATURES Location/Qualifiers
source 1..2003
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q12.1"
gene 1..2003
/gene="SIAH1"
/gene_synonym="SIAH1A"
/note="siah E3 ubiquitin protein ligase 1"
/db_xref="GeneID:6477"
/db_xref="HGNC:10857"
/db_xref="MIM:602212"
exon 1..115
/gene="SIAH1"
/gene_synonym="SIAH1A"
/inference="alignment:Splign:1.39.8"
exon 116..2003
/gene="SIAH1"
/gene_synonym="SIAH1A"
/inference="alignment:Splign:1.39.8"
CDS 118..966
/gene="SIAH1"
/gene_synonym="SIAH1A"
/EC_number="6.3.2.-"
/note="isoform a is encoded by transcript variant 1; E3
ubiquitin-protein ligase SIAH1; seven in absentia homolog
1; siah-1a"
/codon_start=1
/product="E3 ubiquitin-protein ligase SIAH1 isoform a"
/protein_id="NP_003022.3"
/db_xref="GI:63148618"
/db_xref="CCDS:CCDS10735.1"
/db_xref="GeneID:6477"
/db_xref="HGNC:10857"
/db_xref="MIM:602212"
/translation="
MSRQTATALPTGTSKCPPSQRVPALTGTTASNNDLASLFECPVCFDYVLPPILQCQSGHLVCSNCRPKLTCCPTCRGPLGSIRNLAMEKVANSVLFPCKYASSGCEITLPHTEKADHEELCEFRPYSCPCPGASCKWQGSLDAVMPHLMHQHKSITTLQGEDIVFLATDINLPGAVDWVMMQSCFGFHFMLVLEKQEKYDGHQQFFAIVQLIGTRKQAENFAYRLELNGHRRRLTWEATPRSIHEGIATAIMNSDCLVFDTSIAQLFAENGNLGINVTISMC
"
misc_feature 172..174
/gene="SIAH1"
/gene_synonym="SIAH1A"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by ATM and ATR; propagated from
UniProtKB/Swiss-Prot (Q8IUQ4.2); phosphorylation site"
misc_feature 232..345
/gene="SIAH1"
/gene_synonym="SIAH1A"
/note="Zinc finger, C3HC4 type (RING finger); Region:
zf-C3HC4_2; pfam13923"
/db_xref="CDD:206094"
misc_feature 361..951
/gene="SIAH1"
/gene_synonym="SIAH1A"
/note="Seven in absentia protein family; Region: Sina;
pfam03145"
/db_xref="CDD:190542"
misc_feature 385..963
/gene="SIAH1"
/gene_synonym="SIAH1A"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IUQ4.2);
Region: SBD"
misc_feature 580..960
/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:239753"
misc_feature order(601..609,613..615,619..621,646..651)
/gene="SIAH1"
/gene_synonym="SIAH1A"
/note="substrate binding site [chemical binding]; other
site"
/db_xref="CDD:239753"
misc_feature order(772..774,808..828,832..834,877..882,901..903,
913..915)
/gene="SIAH1"
/gene_synonym="SIAH1A"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:239753"
STS 122..749
/gene="SIAH1"
/gene_synonym="SIAH1A"
/standard_name="PMC149152P1"
/db_xref="UniSTS:271027"
STS 873..1566
/gene="SIAH1"
/gene_synonym="SIAH1A"
/standard_name="SIAH1_2345"
/db_xref="UniSTS:280995"
variation 907
/gene="SIAH1"
/gene_synonym="SIAH1A"
/replace="g"
/replace="t"
/db_xref="dbSNP:1060155"
STS 1154..1379
/gene="SIAH1"
/gene_synonym="SIAH1A"
/standard_name="RH68358"
/db_xref="UniSTS:48689"
variation 1676
/gene="SIAH1"
/gene_synonym="SIAH1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:1060181"
STS 1759..1920
/gene="SIAH1"
/gene_synonym="SIAH1A"
/standard_name="G20682"
/db_xref="UniSTS:20485"
STS 1759..1920
/gene="SIAH1"
/gene_synonym="SIAH1A"
/standard_name="RH17142"
/db_xref="UniSTS:85949"
variation 1831
/gene="SIAH1"
/gene_synonym="SIAH1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:8190"
variation 1840
/gene="SIAH1"
/gene_synonym="SIAH1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:12883"
polyA_signal 1986..1991
/gene="SIAH1"
/gene_synonym="SIAH1A"
ORIGIN
gtcccgtcggtctcggcgccgggaagaggcggtggcgctgcccgcggtggcgggggttggcgacggagcgcgttggtgccaggaccggggtccgaggcgcgctctccgcccacagaaatgagccgtcagactgctacagcattacctaccggtacctcgaagtgtccaccatcccagagggtgcctgccctgactggcacaactgcatccaacaatgacttggcgagtctttttgagtgtccagtctgctttgactatgtgttaccgcccattcttcaatgtcagagtggccatcttgtttgtagcaactgtcgcccaaagctcacatgttgtccaacttgccggggccctttgggatccattcgcaacttggctatggagaaagtggctaattcagtacttttcccctgtaaatatgcgtcttctggatgtgaaataactctgccacacacagaaaaagcagaccatgaagagctctgtgagtttaggccttattcctgtccgtgccctggtgcttcctgtaaatggcaaggctctctggatgctgtaatgccccatctgatgcatcagcataagtccattacaaccctacagggagaggatatagtttttcttgctacagacattaatcttcctggtgctgttgactgggtgatgatgcagtcctgttttggctttcacttcatgttagtcttagagaaacaggaaaaatacgatggtcaccagcagttcttcgcaatcgtacagctgataggaacacgcaagcaagctgaaaattttgcttaccgacttgagctaaatggtcataggcgacgattgacttgggaagcgactcctcgatctattcatgaaggaattgcaacagccattatgaatagcgactgtctagtctttgacaccagcattgcacagctttttgcagaaaatggcaatttaggcatcaatgtaactatttccatgtgttgaaatggcaatcaaacattttctggccagtgtttaaaacttcagtttcacagaaaataaggcacccatctgtctgccaacctaaaactctttcggtaggtggaagctagacacatgaaggtaaataaaaagaaaggctgttaaatacaggaaacagttgcatgtagtaacactaatatatttaaaaataagtcaacagtaaaccactgaaaaaatatatgtatatacacccaagatgggcatcttttgtattaagaaaggaagcattgtaaaataattctgagttttgtgtttgttgtagattgattgtattgttgaaaaagtttgtttttgcgtgggagtgtgtgcctgcgtgggtgtgtgcgtgtttgggtttttttcctttaactgacaagccatcttgagtggtcatgggccactgcttttccctttgtgagtcaatacatagtgctgctgtgtgctttttttgtgtgtatttgctaatttttattaattttagtttttcattaaataaatttgacttttctgtaattcaggtttttcctttttttgtaccattttaaagttagtatcttttgatatgcatatttgtttatggtaaaaaatttataacgtgttcaatattttcttttcccccattaatcagttcattagaaatattttaaaatcagctattttgtgaagccatgagttccagaaagtaaaggtgacatcggaaaaataatcaaaagctatttaaagcatctataaggtgctctctttctgtcttctacagatgagtcacacctttgagcttaatctttgaaaggttagagaataaattgatttttataaatactgcaaatcaggcttttgtttcctttttcagatatcttggacaaatcacatattttaaaatttgttcttgtatttattggttttgcagaagaaggcatcgtcatgcacagtatttgtaattaaaagcaaatcatttgtttaaaaaggcagtttgcaaaaaatgtttttggtcttttataattctcattaaaagaatatctggc
//
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_003022 -> EC 6.3.2.-
by
@meso_cacase at
DBCLS
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