NOM1_HUMAN
ID NOM1_HUMAN Reviewed; 860 AA.
AC Q5C9Z4; Q96I08;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Nucleolar MIF4G domain-containing protein 1;
DE AltName: Full=SGD1 homolog;
GN Name=NOM1; Synonyms=C7orf3;
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 [MRNA], POSSIBLE INTERACTION WITH EIF4A1; EIF4A2 AND
RP EIF4A3, AND SUBCELLULAR LOCATION.
RX PubMed=15715967; DOI=10.1016/j.gene.2004.12.027;
RA Simmons H.M., Ruis B.L., Kapoor M., Hudacek A.W., Conklin K.F.;
RT "Identification of NOM1, a nucleolar, eIF4A binding protein encoded within
RT the chromosome 7q36 breakpoint region targeted in cases of pediatric acute
RT myeloid leukemia.";
RL Gene 347:137-145(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 180-860, AND TISSUE SPECIFICITY.
RX PubMed=10329000; DOI=10.1006/geno.1999.5796;
RA Heus H.C., Hing A., van Baren M.J., Joosse M., Breedveld G.J., Wang J.C.,
RA Burgess A., Donnis-Keller H., Berglund C., Zguricas J., Scherer S.W.,
RA Rommens J.M., Oostra B.A., Heutink P.;
RT "A physical and transcriptional map of the preaxial polydactyly locus on
RT chromosome 7q36.";
RL Genomics 57:342-351(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 566-860.
RC TISSUE=Muscle;
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 [4]
RP FUNCTION, INTERACTION WITH PPP1CA AND PPP1CC, SUBCELLULAR LOCATION, AND
RP MUTAGENESIS OF VAL-308 AND PHE-310.
RX PubMed=17965019; DOI=10.1074/jbc.m706708200;
RA Gunawardena S.R., Ruis B.L., Meyer J.A., Kapoor M., Conklin K.F.;
RT "NOM1 targets protein phosphatase I to the nucleolus.";
RL J. Biol. Chem. 283:398-404(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-317; SER-320 AND SER-321, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-317; SER-320 AND SER-321, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-317; SER-320 AND SER-321, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-57 AND SER-139, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Plays a role in targeting PPP1CA to the nucleolus.
CC {ECO:0000269|PubMed:17965019}.
CC -!- SUBUNIT: May interact with EIF4A1, EIF4A2 and EIF4A3. Interacts with
CC PPP1CA and PPP1CC. {ECO:0000269|PubMed:17965019}.
CC -!- INTERACTION:
CC Q5C9Z4; P38919: EIF4A3; NbExp=3; IntAct=EBI-2685618, EBI-299104;
CC Q5C9Z4; Q8NEJ9: NGDN; NbExp=3; IntAct=EBI-2685618, EBI-9995414;
CC Q5C9Z4; P78362: SRPK2; NbExp=3; IntAct=EBI-2685618, EBI-593303;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15715967,
CC ECO:0000269|PubMed:17965019}.
CC -!- TISSUE SPECIFICITY: Expressed in heart and skeletal muscle.
CC {ECO:0000269|PubMed:10329000}.
CC -!- SIMILARITY: Belongs to the CWC22 family. {ECO:0000305}.
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DR EMBL; AY576779; AAT39521.1; -; mRNA.
DR EMBL; AF107455; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC007902; AAH07902.2; -; mRNA.
DR CCDS; CCDS34787.1; -.
DR RefSeq; NP_612409.1; NM_138400.1.
DR AlphaFoldDB; Q5C9Z4; -.
DR SMR; Q5C9Z4; -.
DR BioGRID; 122182; 147.
DR ELM; Q5C9Z4; -.
DR IntAct; Q5C9Z4; 53.
DR MINT; Q5C9Z4; -.
DR STRING; 9606.ENSP00000275820; -.
DR GlyGen; Q5C9Z4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5C9Z4; -.
DR PhosphoSitePlus; Q5C9Z4; -.
DR BioMuta; NOM1; -.
DR DMDM; 74707675; -.
DR EPD; Q5C9Z4; -.
DR jPOST; Q5C9Z4; -.
DR MassIVE; Q5C9Z4; -.
DR MaxQB; Q5C9Z4; -.
DR PaxDb; Q5C9Z4; -.
DR PeptideAtlas; Q5C9Z4; -.
DR PRIDE; Q5C9Z4; -.
DR ProteomicsDB; 62725; -.
DR Antibodypedia; 56748; 68 antibodies from 19 providers.
DR DNASU; 64434; -.
DR Ensembl; ENST00000275820.4; ENSP00000275820.3; ENSG00000146909.8.
DR GeneID; 64434; -.
DR KEGG; hsa:64434; -.
DR MANE-Select; ENST00000275820.4; ENSP00000275820.3; NM_138400.2; NP_612409.1.
DR UCSC; uc003wmy.3; human.
DR CTD; 64434; -.
DR DisGeNET; 64434; -.
DR GeneCards; NOM1; -.
DR HGNC; HGNC:13244; NOM1.
DR HPA; ENSG00000146909; Low tissue specificity.
DR MIM; 611269; gene.
DR neXtProt; NX_Q5C9Z4; -.
DR OpenTargets; ENSG00000146909; -.
DR PharmGKB; PA25946; -.
DR VEuPathDB; HostDB:ENSG00000146909; -.
DR eggNOG; KOG2141; Eukaryota.
DR GeneTree; ENSGT00940000153458; -.
DR HOGENOM; CLU_006786_0_1_1; -.
DR InParanoid; Q5C9Z4; -.
DR OMA; QFKQSIR; -.
DR OrthoDB; 307186at2759; -.
DR PhylomeDB; Q5C9Z4; -.
DR TreeFam; TF312808; -.
DR PathwayCommons; Q5C9Z4; -.
DR SignaLink; Q5C9Z4; -.
DR BioGRID-ORCS; 64434; 606 hits in 1088 CRISPR screens.
DR ChiTaRS; NOM1; human.
DR GeneWiki; NOM1; -.
DR GenomeRNAi; 64434; -.
DR Pharos; Q5C9Z4; Tbio.
DR PRO; PR:Q5C9Z4; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q5C9Z4; protein.
DR Bgee; ENSG00000146909; Expressed in epithelial cell of pancreas and 173 other tissues.
DR Genevisible; Q5C9Z4; HS.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0048820; P:hair follicle maturation; IEA:Ensembl.
DR GO; GO:0042274; P:ribosomal small subunit biogenesis; IBA:GO_Central.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR003891; Initiation_fac_eIF4g_MI.
DR InterPro; IPR003890; MIF4G-like_typ-3.
DR Pfam; PF02847; MA3; 1.
DR Pfam; PF02854; MIF4G; 1.
DR SMART; SM00544; MA3; 1.
DR SMART; SM00543; MIF4G; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
DR PROSITE; PS51366; MI; 1.
PE 1: Evidence at protein level;
KW Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..860
FT /note="Nucleolar MIF4G domain-containing protein 1"
FT /id="PRO_0000286823"
FT DOMAIN 362..559
FT /note="MIF4G"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00698"
FT DOMAIN 654..770
FT /note="MI"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00698"
FT REGION 1..269
FT /note="Necessary for nucleolar localization and for
FT targeting PPP1CA to the nucleolus"
FT REGION 1..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 191..211
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 225..339
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 307..310
FT /note="Required for efficient binding to PPP1CA and for
FT targeting PPP1CA to the nucleolus"
FT COMPBIAS 37..53
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 80..97
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 118..144
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 235..265
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 293..316
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 57
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 139
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 317
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692"
FT MOD_RES 320
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692"
FT MOD_RES 321
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692"
FT VARIANT 24
FT /note="R -> G (in dbSNP:rs6969990)"
FT /id="VAR_061999"
FT VARIANT 122
FT /note="H -> P (in dbSNP:rs6952214)"
FT /id="VAR_032187"
FT VARIANT 723
FT /note="M -> V (in dbSNP:rs12919)"
FT /id="VAR_053051"
FT VARIANT 779
FT /note="R -> H (in dbSNP:rs2302445)"
FT /id="VAR_032188"
FT VARIANT 804
FT /note="V -> L (in dbSNP:rs2302443)"
FT /id="VAR_032189"
FT VARIANT 812
FT /note="V -> M (in dbSNP:rs12919)"
FT /id="VAR_032190"
FT MUTAGEN 308
FT /note="V->A: Loss of interaction with PPP1CA and loss of
FT ability to relocalize PPP1CA to the nucleolus; when
FT associated with A-310."
FT /evidence="ECO:0000269|PubMed:17965019"
FT MUTAGEN 310
FT /note="F->A: Loss of interaction with PPP1CA and loss of
FT ability to relocalize PPP1CA to the nucleolus; when
FT associated with A-308."
FT /evidence="ECO:0000269|PubMed:17965019"
SQ SEQUENCE 860 AA; 96257 MW; D4FAB8FB9AC3B5C9 CRC64;
MAASRSAGEA GPGGSQGRVV RMKRRGGRGP RRGPAGGGEK ALKRLKLAVE EFVHATSEGE
APGGCEGRGA PVSFRPGGRK SRKELRKEKR HLRKARRLQR TAGPEQGPGL GGRSGAEEAS
GHRQDTEERA RPAPSRDPSP PRKPRPSRVK AKATAATAKT RPSAAATAAA RKRALLAANE
EEDREIRKLE RCLGLNKRKK KDGSSSVPLS FARDGLDYIL GALESGKNSG LYDSSGEEEE
DAGQTLPESD LESDSQDESE EEEEGDVEKE KKAQEAEAQS EDDDEDTEEE QGEEKEKGAQ
EKRRGKRVRF AEDEEKSENS SEDGDITDKS LCGSGEKYIP PHVRQAEETV DFKKKEELER
LKKHVKGLLN RLSEPNMASI SGQLEELYMA HSRKDMNDTL TSALMGACVT ASAMPSRLMM
EHVLLVSILH HTVGIEVGAH FLEAVVRKFD AIYKYGSEGK ECDNLFTVIA HLYNFHVVQS
LLIFDILKKL IGTFTEKDIE LILLMLKNVG FSLRKDDALS LKELITEAQT KASGAGSEFQ
DQTRIRFMLE TMLALKNNDM RKIPGYDPEP VEKLRKLQRA LVRNAGSGSE TQLRVSWDSV
LSAEQTGRWW IVGSAWSGAP MIDNSHHTHL QKQLVGTVSS KILELARKQR MNTDIRRNIF
CTIMTSEDFL DAFEKLLKLG LKDQQEREII HVLMDCCLQE KTYNPFYAFL ASKFCEYERR
FQMTFQFSIW DKFRDLENLP ATNFSNLVHL VAHLLKTKSL SLSILKVVEF SELDKPRVRF
LRKVLSILLM ETEVEDLSLI FTRVSDNPKL GVLREGLKLF ISHFLLKNAQ AHRSADEANV
LREKADLATK CLQGKASLRM
