F10C1_HUMAN
ID F10C1_HUMAN Reviewed; 315 AA.
AC Q70Z53; C9JCR4; C9JCR5; C9JMY4; Q70Z49; Q70Z50; Q70Z51; Q70Z52; Q8N293;
AC Q8WVH5; Q96JQ8;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Protein FRA10AC1;
GN Name=FRA10AC1; Synonyms=C10orf4; ORFNames=PRO2972;
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] (ISOFORMS 1; 2; 3; 4 AND 5), SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND VARIANTS HIS-16 AND ARG-78.
RX PubMed=15203205; DOI=10.1016/j.ygeno.2003.12.017;
RA Sarafidou T., Kahl C., Martinez-Garay I., Mangelsdorf M., Gesk S.,
RA Baker E., Kokkinaki M., Talley P., Maltby E.L., French L., Harder L.,
RA Hinzmann B., Nobile C., Richkind K., Finnis M., Deloukas P.,
RA Sutherland G.R., Kutsche K., Moschonas N.K., Siebert R., Gecz J.;
RT "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG
RT repeat in a novel gene, FRA10AC1, encoding a nuclear protein.";
RL Genomics 84:69-81(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS HIS-16 AND
RP ARG-78.
RC TISSUE=Brain;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 123-315.
RC TISSUE=Fetal liver;
RX PubMed=11483580; DOI=10.1101/gr.175501;
RA Yu Y., Zhang C., Zhou G., Wu S., Qu X., Wei H., Xing G., Dong C., Zhai Y.,
RA Wan J., Ouyang S., Li L., Zhang S., Zhou K., Zhang Y., Wu C., He F.;
RT "Gene expression profiling in human fetal liver and identification of
RT tissue- and developmental-stage-specific genes through compiled expression
RT profiles and efficient cloning of full-length cDNAs.";
RL Genome Res. 11:1392-1403(2001).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-251 AND SER-252, 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 [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, VARIANT [LARGE SCALE ANALYSIS]
RP HIS-16, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-278, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
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 [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-278, VARIANT
RP [LARGE SCALE ANALYSIS] HIS-16, AND IDENTIFICATION BY MASS SPECTROMETRY
RP [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 -!- INTERACTION:
CC Q70Z53; Q8IWX8: CHERP; NbExp=2; IntAct=EBI-710176, EBI-2555370;
CC Q70Z53; Q96DF8: ESS2; NbExp=2; IntAct=EBI-710176, EBI-3928124;
CC Q70Z53; Q13123: IK; NbExp=2; IntAct=EBI-710176, EBI-713456;
CC Q70Z53; Q12852: MAP3K12; NbExp=2; IntAct=EBI-710176, EBI-710223;
CC Q70Z53; Q70IA6: MOB2; NbExp=3; IntAct=EBI-710176, EBI-2558739;
CC Q70Z53; Q13435: SF3B2; NbExp=2; IntAct=EBI-710176, EBI-749111;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15203205}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=FRA10AC1-1;
CC IsoId=Q70Z53-1; Sequence=Displayed;
CC Name=2; Synonyms=FRA10AC1-2;
CC IsoId=Q70Z53-2; Sequence=VSP_015126, VSP_015127;
CC Name=3; Synonyms=FRA10AC1-3.1;
CC IsoId=Q70Z53-3; Sequence=VSP_015123;
CC Name=4; Synonyms=FRA10AC1-3.2;
CC IsoId=Q70Z53-4; Sequence=VSP_015125, VSP_015128;
CC Name=5; Synonyms=FRA10AC1-3.3;
CC IsoId=Q70Z53-5; Sequence=VSP_015124;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in
CC brain, heart, skeletal muscle, kidney and liver.
CC {ECO:0000269|PubMed:15203205}.
CC -!- MISCELLANEOUS: Expansion of a polymorphic CGG repeat within the 5'-UTR
CC of this gene FRA10AC1 may be the cause of folate-sensitive fragile site
CC FRA10A expression which is characterized by chromosomal breakage under
CC specific cell culture conditions. No distinct phenotype has been
CC associated with expression of FRA10A. Nevertheless, some studies have
CC proposed that this fragile site expression might be associated with
CC intellectual disability, tumorigenesis, or neurological disorders.
CC However, these associations can be attributed to ascertainment bias.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK55529.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
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DR EMBL; AJ431721; CAD24470.1; -; mRNA.
DR EMBL; AJ431722; CAD24471.1; -; mRNA.
DR EMBL; AJ431723; CAD24472.1; -; mRNA.
DR EMBL; AJ431724; CAD24473.1; -; mRNA.
DR EMBL; AJ431725; CAD24474.1; -; mRNA.
DR EMBL; AK090955; BAC03556.1; -; mRNA.
DR EMBL; AL157396; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018007; AAH18007.1; -; mRNA.
DR EMBL; AF305826; AAK55529.1; ALT_SEQ; mRNA.
DR CCDS; CCDS7430.1; -. [Q70Z53-1]
DR RefSeq; NP_001334641.1; NM_001347712.1. [Q70Z53-1]
DR RefSeq; NP_001334642.1; NM_001347713.1. [Q70Z53-1]
DR RefSeq; NP_001334643.1; NM_001347714.1. [Q70Z53-1]
DR RefSeq; NP_001334644.1; NM_001347715.1. [Q70Z53-1]
DR RefSeq; NP_660289.2; NM_145246.4. [Q70Z53-1]
DR RefSeq; XP_016871150.1; XM_017015661.1.
DR AlphaFoldDB; Q70Z53; -.
DR BioGRID; 125626; 45.
DR IntAct; Q70Z53; 35.
DR MINT; Q70Z53; -.
DR STRING; 9606.ENSP00000360488; -.
DR iPTMnet; Q70Z53; -.
DR PhosphoSitePlus; Q70Z53; -.
DR BioMuta; FRA10AC1; -.
DR DMDM; 296439361; -.
DR EPD; Q70Z53; -.
DR jPOST; Q70Z53; -.
DR MassIVE; Q70Z53; -.
DR MaxQB; Q70Z53; -.
DR PaxDb; Q70Z53; -.
DR PeptideAtlas; Q70Z53; -.
DR PRIDE; Q70Z53; -.
DR ProteomicsDB; 68583; -. [Q70Z53-1]
DR ProteomicsDB; 68584; -. [Q70Z53-2]
DR ProteomicsDB; 68585; -. [Q70Z53-3]
DR ProteomicsDB; 68586; -. [Q70Z53-4]
DR ProteomicsDB; 68587; -. [Q70Z53-5]
DR Antibodypedia; 30489; 101 antibodies from 18 providers.
DR DNASU; 118924; -.
DR Ensembl; ENST00000359204.5; ENSP00000360488.3; ENSG00000148690.12. [Q70Z53-1]
DR GeneID; 118924; -.
DR KEGG; hsa:118924; -.
DR MANE-Select; ENST00000359204.5; ENSP00000360488.3; NM_145246.5; NP_660289.2.
DR UCSC; uc001kiz.2; human. [Q70Z53-1]
DR CTD; 118924; -.
DR GeneCards; FRA10AC1; -.
DR HGNC; HGNC:1162; FRA10AC1.
DR HPA; ENSG00000148690; Low tissue specificity.
DR MIM; 608866; gene+phenotype.
DR neXtProt; NX_Q70Z53; -.
DR OpenTargets; ENSG00000148690; -.
DR PharmGKB; PA25476; -.
DR VEuPathDB; HostDB:ENSG00000148690; -.
DR eggNOG; KOG1297; Eukaryota.
DR GeneTree; ENSGT00390000017833; -.
DR HOGENOM; CLU_061714_0_1_1; -.
DR InParanoid; Q70Z53; -.
DR OMA; HKLNFHH; -.
DR OrthoDB; 1444601at2759; -.
DR PhylomeDB; Q70Z53; -.
DR TreeFam; TF323667; -.
DR PathwayCommons; Q70Z53; -.
DR SignaLink; Q70Z53; -.
DR BioGRID-ORCS; 118924; 19 hits in 1040 CRISPR screens.
DR ChiTaRS; FRA10AC1; human.
DR GeneWiki; C10orf4; -.
DR GenomeRNAi; 118924; -.
DR Pharos; Q70Z53; Tdark.
DR PRO; PR:Q70Z53; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q70Z53; protein.
DR Bgee; ENSG00000148690; Expressed in tendon of biceps brachii and 193 other tissues.
DR Genevisible; Q70Z53; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0016791; F:phosphatase activity; IBA:GO_Central.
DR GO; GO:0016311; P:dephosphorylation; IBA:GO_Central.
DR InterPro; IPR019129; Folate-sensitive_fs_Fra10Ac1.
DR Pfam; PF09725; Fra10Ac1; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..315
FT /note="Protein FRA10AC1"
FT /id="PRO_0000087148"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 226..315
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 233..299
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 300..315
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:19413330"
FT MOD_RES 9
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5FVF1"
FT MOD_RES 12
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 36
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q8BP78"
FT MOD_RES 251
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 252
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 278
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 283
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BP78"
FT MOD_RES 285
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BP78"
FT VAR_SEQ 276..315
FT /note="RNSDEEESASESELWKGPLPETDEKSQEEEFDEYFQDLFL -> RRMLEELQ
FT MFTWEKSERMGGKRLIIIIGEELSANVTTLKL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15203205"
FT /id="VSP_015123"
FT VAR_SEQ 276..315
FT /note="RNSDEEESASESELWKGPLPETDEKSQEEEFDEYFQDLFL -> NGVMLFHP
FT GWSAVARSQLTAAPASQVQTNNHYWRGVVC (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15203205"
FT /id="VSP_015124"
FT VAR_SEQ 276..292
FT /note="RNSDEEESASESELWKG -> KTYFVGLLSESNEKTYM (in isoform
FT 4)"
FT /evidence="ECO:0000303|PubMed:15203205"
FT /id="VSP_015125"
FT VAR_SEQ 276
FT /note="R -> N (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15203205"
FT /id="VSP_015126"
FT VAR_SEQ 277..315
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15203205"
FT /id="VSP_015127"
FT VAR_SEQ 293..315
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15203205"
FT /id="VSP_015128"
FT VARIANT 16
FT /note="R -> H (in dbSNP:rs726817)"
FT /evidence="ECO:0000269|PubMed:15203205,
FT ECO:0000269|PubMed:15489334, ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:23186163"
FT /id="VAR_023237"
FT VARIANT 78
FT /note="T -> R (in dbSNP:rs2275438)"
FT /evidence="ECO:0000269|PubMed:15203205,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_023238"
FT VARIANT 251
FT /note="S -> F (in dbSNP:rs11187583)"
FT /id="VAR_056872"
FT CONFLICT 81
FT /note="V -> I (in Ref. 1; CAD24470/CAD24471/CAD24472/
FT CAD24473/CAD24474)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 315 AA; 37548 MW; 418963E63A34EE9E CRC64;
MHGHGGYDSD FSDDERCGES SKRKKRTVED DLLLQKPFQK EKHGKVAHKQ VAAELLDREE
ARNRRFHLIA MDAYQRHTKF VNDYILYYGG KKEDFKRLGE NDKTDLDVIR ENHRFLWNEE
DEMDMTWEKR LAKKYYDKLF KEYCIADLSK YKENKFGFRW RVEKEVISGK GQFFCGNKYC
DKKEGLKSWE VNFGYIEHGE KRNALVKLRL CQECSIKLNF HHRRKEIKSK KRKDKTKKDC
EESSHKKSRL SSAEEASKKK DKGHSSSKKS EDSLLRNSDE EESASESELW KGPLPETDEK
SQEEEFDEYF QDLFL
