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2025-05-09 19:17:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006831 1864 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens cleavage and polyadenylation factor I subunit 1
(CLP1), transcript variant 1, mRNA.
ACCESSION NM_006831
VERSION NM_006831.2 GI:217272857
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 1864)
AUTHORS Ramirez,A., Shuman,S. and Schwer,B.
TITLE Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme
in vivo
JOURNAL RNA 14 (9), 1737-1745 (2008)
PUBMED 18648070
REMARK GeneRIF: Expression of hClp1 in budding yeast can complement
conditional and lethal mutations in the essential 5'-OH RNA kinase
module of yeast or plant tRNA ligases.
REFERENCE 2 (bases 1 to 1864)
AUTHORS Weitzer,S. and Martinez,J.
TITLE The human RNA kinase hClp1 is active on 3' transfer RNA exons and
short interfering RNAs
JOURNAL Nature 447 (7141), 222-226 (2007)
PUBMED 17495927
REMARK GeneRIF: the kinase hClp1 phosphorylates and licenses synthetic
siRNAs to become assembled into RISC for subsequent target RNA
cleavage
REFERENCE 3 (bases 1 to 1864)
AUTHORS Paushkin,S.V., Patel,M., Furia,B.S., Peltz,S.W. and Trotta,C.R.
TITLE Identification of a human endonuclease complex reveals a link
between tRNA splicing and pre-mRNA 3' end formation
JOURNAL Cell 117 (3), 311-321 (2004)
PUBMED 15109492
REFERENCE 4 (bases 1 to 1864)
AUTHORS Zhou,Z., Licklider,L.J., Gygi,S.P. and Reed,R.
TITLE Comprehensive proteomic analysis of the human spliceosome
JOURNAL Nature 419 (6903), 182-185 (2002)
PUBMED 12226669
REFERENCE 5 (bases 1 to 1864)
AUTHORS de Vries,H., Ruegsegger,U., Hubner,W., Friedlein,A., Langen,H. and
Keller,W.
TITLE Human pre-mRNA cleavage factor II(m) contains homologs of yeast
proteins and bridges two other cleavage factors
JOURNAL EMBO J. 19 (21), 5895-5904 (2000)
PUBMED 11060040
REMARK GeneRIF: HEAB is a pre-mRNA 3'-end processing factor, which bridges
two other pre-mRNA processing factors (CF Im and CPSF) and is
involved in cleavage of the pre-mRNA. It can be UV-crosslinked to
GTP.
REFERENCE 6 (bases 1 to 1864)
AUTHORS Tanabe,S., Bohlander,S.K., Vignon,C.V., Espinosa,R. III, Zhao,N.,
Strissel,P.L., Zeleznik-Le,N.J. and Rowley,J.D.
TITLE AF10 is split by MLL and HEAB, a human homolog to a putative
Caenorhabditis elegans ATP/GTP-binding protein in an
invins(10;11)(p12;q23q12)
JOURNAL Blood 88 (9), 3535-3545 (1996)
PUBMED 8896421
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA922553.1 and BC000446.1.
On Dec 11, 2008 this sequence version replaced gi:5803028.
Transcript Variant: This variant (1) uses an alternate splice donor
site and encodes a longer protein (isoform 1).
##Evidence-Data-START##
Transcript exon combination :: U73524.1, BG339978.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-22 DA922553.1 1-22
23-1864 BC000446.1 11-1852
FEATURES Location/Qualifiers
source 1..1864
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q12"
gene 1..1864
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/note="cleavage and polyadenylation factor I subunit 1"
/db_xref="GeneID:10978"
/db_xref="HGNC:16999"
/db_xref="HPRD:16382"
/db_xref="MIM:608757"
exon 1..117
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/inference="alignment:Splign:1.39.8"
variation 13
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:117284601"
variation 31
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="g"
/replace="t"
/db_xref="dbSNP:185853414"
variation 40
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:373729660"
variation 73
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="c"
/db_xref="dbSNP:376913568"
misc_feature 86..88
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/note="upstream in-frame stop codon"
exon 118..745
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/inference="alignment:Splign:1.39.8"
variation 132
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:374267974"
CDS 140..1417
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/EC_number="2.7.1.78"
/note="isoform 1 is encoded by transcript variant 1;
homolog of yeast CFIA subunit Clp1p; ATP/GTP-binding
protein; polyribonucleotide 5'-hydroxyl-kinase Clp1;
polynucleotide kinase Clp1; pre-mRNA cleavage complex II
protein Clp1; CLP1, cleavage and polyadenylation factor I
subunit, homolog; polyadenylation factor Clp1"
/codon_start=1
/product="polyribonucleotide 5'-hydroxyl-kinase Clp1
isoform 1"
/protein_id="NP_006822.1"
/db_xref="GI:5803029"
/db_xref="CCDS:CCDS7964.1"
/db_xref="GeneID:10978"
/db_xref="HGNC:16999"
/db_xref="HPRD:16382"
/db_xref="MIM:608757"
/translation="
MGEEANDDKKPTTKFELERETELRFEVEASQSVQLELLTGMAEIFGTELTRNKKFTFDAGAKVAVFTWHGCSVQLSGRTEVAYVSKDTPMLLYLNTHTALEQMRRQAEKEEERGPRVMVVGPTDVGKSTVCRLLLNYAVRLGRRPTYVELDVGQGSVSIPGTMGALYIERPADVEEGFSIQAPLVYHFGSTTPGTNIKLYNKITSRLADVFNQRCEVNRRASVSGCVINTCGWVKGSGYQALVHAASAFEVDVVVVLDQERLYNELKRDLPHFVRTVLLPKSGGVVERSKDFRRECRDERIREYFYGFRGCFYPHAFNVKFSDVKIYKVGAPTIPDSCLPLGMSQEDNQLKLVPVTPGRDMVHHLLSVSTAEGTEENLSETSVAGFIVVTSVDLEHQVFTVLSPAPRPLPKNFLLIMDIRFMDLK
"
misc_feature 224..1408
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/note="Predicted GTPase subunit of the pre-mRNA cleavage
complex [Translation, ribosomal structure and biogenesis];
Region: CLP1; COG5623"
/db_xref="CDD:35182"
misc_feature 482..829
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/note="Molybdopterin guanine dinucleotide synthesis
protein B; Region: MobB; pfam03205"
/db_xref="CDD:190563"
misc_feature 833..1408
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/note="Pre-mRNA cleavage complex II protein Clp1; Region:
Clp1; pfam06807"
/db_xref="CDD:191613"
variation 171
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="c"
/db_xref="dbSNP:141320814"
variation 172
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:150722524"
variation 187
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="c"
/db_xref="dbSNP:139128549"
variation 226
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:57281140"
variation 241
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="g"
/replace="t"
/db_xref="dbSNP:143977407"
variation 242
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:368377553"
variation 265
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:113685226"
variation 316
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:202017683"
variation 317
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="g"
/replace="t"
/db_xref="dbSNP:200305079"
variation 354
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:371072021"
variation 371
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:374658636"
variation 396
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:368779092"
variation 423
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200951285"
variation 432
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:139859258"
variation 454
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:371746577"
variation 460
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:184720631"
variation 490
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:373867004"
variation 550
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:376558702"
variation 551
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:368119334"
variation 553
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372083969"
variation 568
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:150037684"
variation 583
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:142356287"
variation 625
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:149223879"
variation 662
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:145927880"
variation 672
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="t"
/db_xref="dbSNP:34572579"
variation 691
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="g"
/db_xref="dbSNP:142476927"
exon 746..1846
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/inference="alignment:Splign:1.39.8"
variation 783
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:370085533"
variation 789
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:147951568"
variation 795
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372647012"
variation 806
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:375721461"
variation 819
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="g"
/replace="t"
/db_xref="dbSNP:78489374"
variation 874
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:141596718"
variation 937
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:17152015"
variation 940
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:138402857"
variation 946
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:140965892"
variation 950
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:200588495"
variation 971
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:200917931"
variation 1029
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="g"
/replace="t"
/db_xref="dbSNP:1804745"
variation 1037
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:150146614"
variation 1087
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:145579673"
variation 1090
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:111754731"
variation 1206
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:377065634"
variation 1214
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:371222945"
variation 1252
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:146281104"
variation 1272
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:375674736"
variation 1280
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:148451233"
variation 1295
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:371843068"
variation 1324
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:200297908"
variation 1339
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:367955593"
variation 1384
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:113696908"
STS 1419..1651
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/standard_name="RH70702"
/db_xref="UniSTS:45493"
variation 1439
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:372139047"
STS 1448..1684
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/standard_name="RH80129"
/db_xref="UniSTS:88220"
variation 1570
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:184089253"
variation 1738
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="a"
/replace="g"
/db_xref="dbSNP:142223022"
variation 1820
/gene="CLP1"
/gene_synonym="hClp1; HEAB"
/replace="c"
/replace="t"
/db_xref="dbSNP:113003927"
ORIGIN
aagtgcggaactgcgtttgtttccggcgtgggtccgggcaagaaccgcttgtagtttggtttaaattctgcacgggaggaccttctgagtttacctgttgggctcctggctgcgcaggcacagcagctacacagaagagatgggagaagaggctaatgatgacaagaagccaaccactaaatttgaactagagcgagaaacagaacttcgctttgaggtggaggcatctcagtcagttcagttggagttgttgactggcatggcagagatctttggcacagagctgacccgaaacaagaaattcacctttgatgctggtgccaaggtggctgttttcacttggcatggctgttctgtgcaactgagcggccgcactgaggtggcttatgtctccaaggacactcctatgttgctttacctcaacactcacacagccttggaacagatgcggaggcaagcggaaaaggaagaagagcgaggtccccgagtgatggtagtgggccccactgatgtgggcaagtctacagtgtgtcgccttctgctcaactacgcagtgcgtttgggccgccgtcccacttatgtggagctggatgtgggccagggttctgtgtccatccctggtaccatgggggccctctacatcgagcggcctgcagatgtcgaagagggtttctctatccaggcccctctggtgtatcattttggttccaccactcctggcactaacatcaagctttataataagattacatctcgtttagcagatgtgttcaaccaaaggtgtgaggtgaaccgaagggcatctgtgagtggctgtgtcattaacacctgtggctgggtcaagggctctggttaccaggctctggtgcatgcagcctcagcttttgaggtggatgtcgttgttgttctggatcaagaacgactgtacaatgaactgaaacgggacctcccccactttgtacgcactgtgctgctccctaaatctgggggtgtggtggagcgctccaaggacttccggcgggaatgtagggatgagcgtatccgtgagtatttttatggattccgaggctgtttctatccccatgccttcaatgtcaaattttcagatgtgaaaatctacaaagttggggcacccaccatcccagactcctgtttacctttgggcatgtctcaagaggataatcagctcaagctagtacctgtcactcctgggcgagatatggtgcaccacctactgagtgttagcactgccgagggtacagaggagaacctgtccgagacaagtgtagctggcttcattgtggtgaccagtgtggacctggagcatcaggtgtttactgttctgtctccagcccctcgcccactgcctaagaacttccttctcatcatggatatccggttcatggatctgaagtagagatcagcaggaagccttgctgcctgggacatagagatcatctggccacccctagaggcagatgggctgagataaaagactgttggggccacctgaccagtaaactgtggactagtagaaagttcatattctacctctaaaaacaggtagtggtaacctgactcttctaatcttgaaccaaaaggaaaaccatgagactgtaattggtttcttagaccacctaagatgccactttgaattctctaagaccctggagaattgcatttctttcactgtgctactatgtggtttttaaaaaatcaatgctttatattccatatgtggttcttacccatttatctaggatgaaagtgtgaattagagggactccttccaataaagttcaaacttaaaaaaaatcattttaataaatatttttgccatatcataaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10978 -> Molecular function: GO:0005524 [ATP binding] evidence: TAS
GeneID:10978 -> Molecular function: GO:0046404 [ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity] evidence: IEA
GeneID:10978 -> Molecular function: GO:0051733 [polydeoxyribonucleotide kinase activity] evidence: IDA
GeneID:10978 -> Molecular function: GO:0051736 [ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity] evidence: IDA
GeneID:10978 -> Biological process: GO:0000398 [mRNA splicing, via spliceosome] evidence: TAS
GeneID:10978 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:10978 -> Biological process: GO:0006369 [termination of RNA polymerase II transcription] evidence: TAS
GeneID:10978 -> Biological process: GO:0006388 [tRNA splicing, via endonucleolytic cleavage and ligation] evidence: IDA
GeneID:10978 -> Biological process: GO:0008380 [RNA splicing] evidence: TAS
GeneID:10978 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:10978 -> Biological process: GO:0030423 [targeting of mRNA for destruction involved in RNA interference] evidence: IMP
GeneID:10978 -> Biological process: GO:0031124 [mRNA 3'-end processing] evidence: TAS
GeneID:10978 -> Biological process: GO:0035087 [siRNA loading onto RISC involved in RNA interference] evidence: IDA
GeneID:10978 -> Cellular component: GO:0000214 [tRNA-intron endonuclease complex] evidence: IDA
GeneID:10978 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_006822 -> EC 2.7.1.78
by
@meso_cacase at
DBCLS
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