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2025-05-09 18:32:21, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276320 6291 bp mRNA linear PRI 06-JUN-2013
DEFINITION Homo sapiens YOD1 deubiquitinase (YOD1), transcript variant 2,
mRNA.
ACCESSION NM_001276320
VERSION NM_001276320.1 GI:444299625
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 6291)
AUTHORS Ernst,R., Mueller,B., Ploegh,H.L. and Schlieker,C.
TITLE The otubain YOD1 is a deubiquitinating enzyme that associates with
p97 to facilitate protein dislocation from the ER
JOURNAL Mol. Cell 36 (1), 28-38 (2009)
PUBMED 19818707
REMARK GeneRIF: The assignment of a p97-associated ubiquitin processing
function to YOD1 adds to our understanding of p97's role in the
dislocation of misfolded proteins from the endoplasmic reticulum.
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL445493.8.
Summary: Protein ubiquitination controls many intracellular
processes, including cell cycle progression, transcriptional
activation, and signal transduction. This dynamic process,
involving ubiquitin conjugating enzymes and deubiquitinating
enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are
cysteine proteases that specifically cleave ubiquitin from
ubiquitin-conjugated protein substrates. The protein encoded by
this gene belongs to a DUB subfamily characterized by an ovarian
tumor (OTU) domain. Alternative splicing results in multiple
transcript variants. [provided by RefSeq, Jan 2013].
Transcript Variant: This variant (2) contains alternate exons in
the 5' UTR, lacks a portion of the 5' coding region, and initiates
translation at an alternate start codon, compared to variant 1. The
encoded isoform (2) has a distinct N-terminus and is shorter than
isoform 1.
Sequence Note: The RefSeq transcript and protein were derived from
genomic sequence to make the sequence consistent with the reference
genome assembly. The genomic coordinates used for the transcript
record were based on alignments.
##Evidence-Data-START##
Transcript exon combination :: AK128014.1, DB058914.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025085 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-117 AL445493.8 12334-12450 c
118-256 AL445493.8 11655-11793 c
257-416 AL445493.8 10158-10317 c
417-6291 AL445493.8 3319-9193 c
FEATURES Location/Qualifiers
source 1..6291
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q32.2"
gene 1..6291
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/note="YOD1 deubiquitinase"
/db_xref="GeneID:55432"
/db_xref="HGNC:25035"
/db_xref="MIM:612023"
exon 1..117
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/inference="alignment:Splign:1.39.8"
variation 54
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2629663"
exon 118..256
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/inference="alignment:Splign:1.39.8"
misc_feature 143..145
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/note="upstream in-frame stop codon"
CDS 206..1120
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/EC_number="3.4.19.12"
/note="isoform 2 is encoded by transcript variant 2; YOD1
OTU deubiquinating enzyme 1 homolog ( yeast); OTU domain
containing 2; ubiquitin thioesterase OTU1; HIN-7; DUBA-8;
hsHIN7; HIV-1-induced protease 7; OTU domain-containing
protein 2"
/codon_start=1
/product="ubiquitin thioesterase OTU1 isoform 2"
/protein_id="NP_001263249.1"
/db_xref="GI:444299626"
/db_xref="GeneID:55432"
/db_xref="HGNC:25035"
/db_xref="MIM:612023"
/translation="
METLHIIYSEAKSFTVEGLSSRTRVRELQGQIAAITGIAPGGQRILVGYPPECLDLSNGDTILEDLPIQSGDMLIIEEDQTRPRSSPAFTKRGASSYVRETLPVLTRTVVPADNSCLFTSVYYVVEGGVLNPACAPEMRRLIAQIVASDPDFYSEAILGKTNQEYCDWIKRDDTWGGAIEISILSKFYQCEICVVDTQTVRIDRFGEDAGYTKRVLLIYDGIHYDPLQRNFPDPDTPPLTIFSSNDDIVLVQALELADEARRRRQFTDVNRFTLRCMVCQKGLTGQAEAREHAKETGHTNFGEV
"
misc_feature 344..1114
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/note="Predicted cysteine protease (OTU family)
[Posttranslational modification, protein turnover,
chaperones]; Region: COG5539"
/db_xref="CDD:35098"
misc_feature 536..877
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/note="OTU-like cysteine protease; Region: OTU; pfam02338"
/db_xref="CDD:202209"
exon 257..416
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/inference="alignment:Splign:1.39.8"
exon 417..6291
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/inference="alignment:Splign:1.39.8"
variation 799
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2054779"
variation 1873
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2054780"
variation 2076
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1385611"
variation 2685
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2629665"
STS 6008..6208
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/standard_name="D8S2025"
/db_xref="UniSTS:18135"
variation 6126
/gene="YOD1"
/gene_synonym="DUBA8; OTUD2; PRO0907; RP11-164O23.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1044145"
ORIGIN
agactattcggtaggcgtcttgagagcgggtgtgccgggtgacgagaaaatgctgcaaagattaacgctctcattcctgaatcccagcagaacctcattagatccataaatgggaacgctgtatcatccgttgcagtcgtcttgaagaaccaaggaggaaaattgcaccagcaaaaaaaaattgagtcatgaaagatgtgaaaagatggaaacattacatataatttattcagaagcaaagtcttttacagtggaggggctgtccagccggacccgggtgcgggaactccagggccaaattgccgccatcaccgggatcgcccccggcggtcagcgaatcctcgtcggataccctcccgagtgcctggatctcagcaatggggataccattctggaagacttgcccatccaatctggtgacatgctgatcattgaagaagaccaaaccaggcccagaagttcacctgcatttactaaacgtggtgcttctagttacgtcagggaaactttgcctgtgcttaccagaaccgtggtcccagcagacaactcttgcctctttactagtgtgtactatgtcgtcgaaggaggagtcttgaatccagcttgtgcccctgagatgagacgcctcatagcacaaattgtagcaagcgatccagacttctatagtgaggcaatactgggaaaaacaaatcaagagtactgtgactggatcaaaagggatgacacttggggaggagcaatagagatatcgattttgtccaagttttaccaatgtgaaatatgtgtagtggatacacagacagtaagaattgatcgttttggggaagatgcaggatataccaaaagggttctgcttatttatgatggcatccactatgatccacttcagcgtaacttccctgatccagatacacctcctctgaccattttctcctctaatgatgatattgttcttgtacaagcactggaattagcagatgaagctagaagaaggagacagtttactgatgtcaaccgcttcaccctgagatgcatggtatgtcagaaaggattaactggacaagcagaagcaagggaacatgccaaggagacaggccataccaactttggagaagtgtgacctatgcatgaatgagggttgaagcctactacctcacacatccagaaggctctgggttttccaataagctatggtaaccctaaagaacaaaggatacaatgcttgaaccatccttttaacttaaaaccactaagacactgaaattccttgttaagattaaaattagtgtgcaagtttacagatgtgtgtctacagtggtaaactgtacatacatgcctctttctgctggagtgacagaataggtgatccttgccacctactgacactgacctgaaggttgagattgagtattataaactagcacccagcagctttaacttgtagaagaaagcatcacattttgggtaatgtggaaggcctcctgtgagtccactgggcatacgattgagattgagtattataaactagcacccagcagctttaacttgtagaagaaagcatcacattttgggtaatgtggaaggcctcctgtgagtccactggacatttaccacagtgtctccagtaactgagtctttttaaaaactctgaatgagttaagtttctaaattatgaattgattcatcaaatgaagatactcagaattgtccaaactgattttatattgcaatttggtagacattataaatgtgtgcttaaccactgataagtacatcacaagcaatttttacagggatgagtctcatccttgagaatgttatcacaaaacaggaactgattgtgccctgtttaagatctctagcatataaaacgtagaatgtatgagggaataggtgcctgagcagcttcctgaagctttaaaagaccgttggcctcgtgttttaatgcaattcatgtattggtctttgtcacattggataacattttaaagttaagcagggtacttttttaattgaaattccttgaaattcgagtcctcagttttttcttcatttgcgtaaagtttatcggggggaatttaattttctcagctttttgttaagagcacttcctccaaaaaatttttttcaagtaataatgctctgctttgggttggtttttgtaagattttttgcacacctaaagagtgtttgcttttgtgctagccttatccctccactaaagttattttaaataatttcacatttctgcaaattagcactttgcttatctgcaatcttttactttgatttttgaagttttaaagcaattggagtaatactgttgaatgaactagtttcacttccaaaatagaaaaaattgtaaatccttgccttatgcagctttctcagaattctgcttcttcctagtactagatgtgtagccatttgcttagtggactaatccgcaaggcacaccctctaaaacttagcttcactacaagatcttccagataaaagttttctacctcttttcttaattattctgatcagggatgctaaattataatttgttatgtattatctcacataatgtgaagaggcttaatgtgaagttttgttattttggtctcttttttattaagtatctcacttagaaattcagtggtatactttaaagcacttggatctttttcagcatatctgcctagcaaatgttttaaaattgacatttatttttagcactttcacttggtgaaggtggccatataaaattaaggaacatttgaacaatataagagaaaagaacttttaaggaacaattcacaaagtttgtttgaaattgtcagatgacatttcttgagtaccttttgtgtgcatagttattttagacaatataagctgttatggtcagcataacttaaaagtgtttagttttctattttactgagccttaaaaatagcactgatgagcttatgatacttaatgtttggcaatcataatgtgttcaaattaatgggattgaaaatctctccacacctgactctcatctgatctggatggttttggttttgtatcttttttacttctcccagaaaatactaaatttaaaactgtaaattaagaatataccactagataacaattatcaaattgagctttatgcatcattactcagaaagcttgccttcctttctttgctacttcaggacacagagttgacatttgcttactacagctttagatctagaagtttattcgtgcaacaaatatttattgagtaatttatactgtgccaggcatgttttgatatgtttctgtcatatgttttgatatgttccaacataagtttctgtcactttatattcagtatatattttctacagtgggtaaatttaacaaatggaaaggaatagaacactgatattttacagaattaaaccccttcattgtaagggctttgtttacatattaagtgtcaagtatttattcaggggatcttatttcattgtattttatctgttatctaggttgtccatttaccggttggacactgatactctgtcaaattcctttcaaaaatgactctttagtctgctgaaatttagcactagtactttagtgttctgatcctggaaaattcaaggtgaagctttatttgtggaccatctgatttaattattgaggattaaaaacctaaacctttgctcattctaaactcaagcttttaagcctcacagaatttacaggggtttgctttttgtttgtttgttttttcattttttactgtgcttattaaactcttggaattagttattaaagggagtaaattctcatcttgggaattttgaaaatctatggacttacaactttcaggaggattaaatgtcttaagttttgtactagagcagaatgaaatctttcctattcattgagtttttgcctgccatagaggaatttttttaaaaattaaaatgacagtttatattagtggcaaagtgaataaagacctcactttcccaccccacccttcttcctttctcttacttttctttggattaaaggtcaggtgtagtactatgaagattcactcctgaataaagtgatttcagaagctaaaatttaacatacctggaaattttgtgatgtgttagccaagtgaagacattagtgtgttccatcttttgctaatggttcatggttgatttcttcattgtttcccatgaaattagcatagtcaagtggtacccttgacgcttgactgctggtcagtttgaccctgtttttaacaactaatgtagtcatgccgcttgattattccatgaagtcccagcaaaataataatgaggaattaactaacattatgttatctatctaatttgtctgtgtccctaaatgcccatgcctaacttgcttctctagtttattccttctgtggagggattaaaacgtgggtgttgcaagttgccctaagctaaacatagttttcttacatctttttgggaaaaaaaatggaatgggaagtatgcaagattaagcaagagtgatttttttttttttttgacaaatcaggtggccttcctaaacatactaagaattatgttctttcatgtgtggagacacatttgtttgcagcactttaaaaaatatatatggaataaaagtttacatgttggccctctagggatctaattaaggacattaaagtacaattcttgagctactaaccatcagctcttcttaatcaaagattgccatcagtgtagagtgtatctattggcacaacattctggtgttttgataacagtagaactcaatttcagtaactattaggagcatggtctgtgccctagcattaaaaatgttacttattattatgtgaatatcttgtattattatacaatgcagtattcaaatttgtccttgtagtgcagagatgactgataatttctaaaagattcgatccttaaaacttgtttccaagcagacttataaggaagctgatttttgagtcagaggccttaaacgtgtcatatacaagtggcatcattttaagtccaaagtgaaacacttgatttgaataagctagtttataaactaaagctgttttcttatgttacagtatttcagcacatttcattccacataaaaagaatattaagtgtccctggttgtgggagagtgtttatttttctcaaaattatctagcattttgcttacagtgctttgaatgtttgacttaaaattattattgatgttgaattgtagggtgctgatttaggtcttgattcatacacatttaaaggaggttggtaaccccctcatggtagagtgaagggagaaaagggccaagaagacaaagtaccactgataaagaagagattgtcaaatagatgcattcctagtcatgaattacccttttccaaacatttttaaagcaatgcctttgtgtcaactcaacccttcttccccatttcttgtcatagaatgtagcatggccataggtgaaaaagcttatcattaaagtatgaaaccatgaattataagcattttgccatgatgcccttttatacatatgtttttaaaagtactaaccaacatataggagtttaggaatggtgaagatataatttgattaagttgtaggtaaacagaaaggatcatcttaggctcagaatttctaatatgattacatgagtctactttataaactggtataggctatgtaattagcccgtaagttacttaaaggaccaggggacctaatttttgtcagttttccagtcacattggtgccattcaggactccagctgtttacaggaaatatgtacttagcagaatagtatttttccttgaaaaaaatttgaattcagcctaaatacagaatgaatatgaatagtttgtgaaaagggttagagaacaacaatattcctatagtttctgtattaatgcagtagagacagaggttcctaacgcaaaaagaaaaccacaagtaaagaccgtcaaattagagctttagaatatgacttgaaaaagtagggatgggcaaaacagcataagaaaatattttttcttaatgcagatggacagtgttttcttgttttaaaaatgttttgcctatttgccagcattttttgaagtaatacactgctgctacctggaagatgtctaacttcattttctacaactcttatgtgattttgccattgtcattaagatgcattgattttatttatgaggtgtatgactttaaatatctaaatgctgtattaagtgacttgtttcaaaggaataaatgaagtgaaaacgt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55432 -> Molecular function: GO:0004843 [ubiquitin-specific protease activity] evidence: IDA
GeneID:55432 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:55432 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:55432 -> Biological process: GO:0006520 [cellular amino acid metabolic process] evidence: ISS
GeneID:55432 -> Biological process: GO:0030433 [ER-associated protein catabolic process] evidence: IMP
GeneID:55432 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: IMP
GeneID:55432 -> Biological process: GO:0070536 [protein K63-linked deubiquitination] evidence: IDA
GeneID:55432 -> Biological process: GO:0071108 [protein K48-linked deubiquitination] evidence: IDA
by
@meso_cacase at
DBCLS
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