F193B_HUMAN
ID F193B_HUMAN Reviewed; 902 AA.
AC Q96PV7; E9PET5; Q9NW00;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2013, sequence version 3.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Protein FAM193B;
GN Name=FAM193B; Synonyms=IRIZIO, KIAA1931;
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 [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 325-902 (ISOFORM 3), AND VARIANT PRO-816.
RC TISSUE=Brain;
RX PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXI. The
RT complete sequences of 60 new cDNA clones from brain which code for large
RT proteins.";
RL DNA Res. 8:179-187(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PRO-816.
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 MRNA] (ISOFORM 2), AND VARIANT PRO-816.
RC TISSUE=Fetal skin;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT PRO-816.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PRO-816.
RC TISSUE=Uterus;
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 [7]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=21177767; DOI=10.1093/carcin/bgq273;
RA Picchione F., Pritchard C., Lagutina I., Janke L., Grosveld G.C.;
RT "IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar
RT rhabdomyosarcoma (ARMS).";
RL Carcinogenesis 32:452-461(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-785 AND SER-892, 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 -!- INTERACTION:
CC Q96PV7; Q9UKZ1: CNOT11; NbExp=3; IntAct=EBI-741770, EBI-2562014;
CC Q96PV7; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-741770, EBI-12023934;
CC Q96PV7-2; Q08379: GOLGA2; NbExp=3; IntAct=EBI-10292648, EBI-618309;
CC Q96PV7-2; P36406: TRIM23; NbExp=3; IntAct=EBI-10292648, EBI-740098;
CC Q96PV7-2; P14373: TRIM27; NbExp=3; IntAct=EBI-10292648, EBI-719493;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21177767}. Nucleus
CC {ECO:0000269|PubMed:21177767}. Note=Partly colocalized with an
CC endoplasmic reticulum marker, HSP90B1. Shuttles between nucleus and
CC cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96PV7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96PV7-2; Sequence=VSP_034780;
CC Name=3;
CC IsoId=Q96PV7-3; Sequence=VSP_047164;
CC -!- TISSUE SPECIFICITY: Isoform 1 is up-regulated in both embryonal
CC rhabdomyosarcoma and alveolar rhabdomyosarcoma cell lines.
CC {ECO:0000269|PubMed:21177767}.
CC -!- SIMILARITY: Belongs to the FAM193 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB67824.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB067518; BAB67824.1; ALT_INIT; mRNA.
DR EMBL; AK001266; BAA91589.1; -; mRNA.
DR EMBL; BX647587; CAI46078.1; -; mRNA.
DR EMBL; AC145098; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471195; EAW84969.1; -; Genomic_DNA.
DR EMBL; BC008784; AAH08784.1; -; mRNA.
DR CCDS; CCDS54954.1; -. [Q96PV7-3]
DR RefSeq; XP_006714938.1; XM_006714875.2. [Q96PV7-1]
DR RefSeq; XP_006714947.1; XM_006714884.1.
DR RefSeq; XP_006714948.1; XM_006714885.1. [Q96PV7-2]
DR RefSeq; XP_011532884.1; XM_011534582.1.
DR RefSeq; XP_011532885.1; XM_011534583.1.
DR AlphaFoldDB; Q96PV7; -.
DR SMR; Q96PV7; -.
DR BioGRID; 120027; 25.
DR IntAct; Q96PV7; 13.
DR MINT; Q96PV7; -.
DR STRING; 9606.ENSP00000422131; -.
DR GlyGen; Q96PV7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96PV7; -.
DR PhosphoSitePlus; Q96PV7; -.
DR SwissPalm; Q96PV7; -.
DR BioMuta; FAM193B; -.
DR DMDM; 519668676; -.
DR EPD; Q96PV7; -.
DR MassIVE; Q96PV7; -.
DR MaxQB; Q96PV7; -.
DR PaxDb; Q96PV7; -.
DR PeptideAtlas; Q96PV7; -.
DR PRIDE; Q96PV7; -.
DR ProteomicsDB; 19959; -.
DR ProteomicsDB; 77777; -. [Q96PV7-1]
DR ProteomicsDB; 77778; -. [Q96PV7-2]
DR Antibodypedia; 29329; 39 antibodies from 18 providers.
DR DNASU; 54540; -.
DR Ensembl; ENST00000514747.6; ENSP00000422131.1; ENSG00000146067.16. [Q96PV7-3]
DR GeneID; 54540; -.
DR MANE-Select; ENST00000514747.6; ENSP00000422131.1; NM_001190946.3; NP_001177875.1. [Q96PV7-3]
DR UCSC; uc003mhu.4; human. [Q96PV7-1]
DR CTD; 54540; -.
DR DisGeNET; 54540; -.
DR GeneCards; FAM193B; -.
DR HGNC; HGNC:25524; FAM193B.
DR HPA; ENSG00000146067; Low tissue specificity.
DR MIM; 615813; gene.
DR neXtProt; NX_Q96PV7; -.
DR OpenTargets; ENSG00000146067; -.
DR PharmGKB; PA165660336; -.
DR VEuPathDB; HostDB:ENSG00000146067; -.
DR eggNOG; ENOG502QV04; Eukaryota.
DR GeneTree; ENSGT00390000000973; -.
DR HOGENOM; CLU_012556_0_0_1; -.
DR InParanoid; Q96PV7; -.
DR OMA; PPGTCQS; -.
DR OrthoDB; 171147at2759; -.
DR TreeFam; TF330223; -.
DR PathwayCommons; Q96PV7; -.
DR SignaLink; Q96PV7; -.
DR BioGRID-ORCS; 54540; 8 hits in 1081 CRISPR screens.
DR ChiTaRS; FAM193B; human.
DR GenomeRNAi; 54540; -.
DR Pharos; Q96PV7; Tdark.
DR PRO; PR:Q96PV7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96PV7; protein.
DR Bgee; ENSG00000146067; Expressed in right uterine tube and 194 other tissues.
DR ExpressionAtlas; Q96PV7; baseline and differential.
DR Genevisible; Q96PV7; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR InterPro; IPR029717; FAM193.
DR InterPro; IPR031802; FAM193_C.
DR InterPro; IPR029722; FAM193B.
DR PANTHER; PTHR15109; PTHR15109; 1.
DR PANTHER; PTHR15109:SF3; PTHR15109:SF3; 1.
DR Pfam; PF15914; FAM193_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..902
FT /note="Protein FAM193B"
FT /id="PRO_0000344457"
FT REGION 1..79
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 159..192
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 210..319
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 382..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 581..655
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 679..854
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 490..524
FT /evidence="ECO:0000255"
FT COMPBIAS 25..40
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 242..267
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 268..282
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 594..628
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 636..653
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 773
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3U2K0"
FT MOD_RES 785
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 892
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..454
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11572484,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_034780"
FT VAR_SEQ 426..505
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11572484"
FT /id="VSP_047164"
FT VARIANT 816
FT /note="S -> P (in dbSNP:rs337382)"
FT /evidence="ECO:0000269|PubMed:11572484,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.5"
FT /id="VAR_045619"
SQ SEQUENCE 902 AA; 96543 MW; 584AF8E0C8F8DF74 CRC64;
MTRRRSRPSG GAGRRERARA AGPQKPQAPE PPPPPSLEAG AGAGPPEAPA EPDHDGPRED
DEPNLVPGPQ VPPASSQPVQ TCCLLCHRER KGWEEGPSQN GLVLQGEKLP PDFMPKLVKN
LLGEMPLWVC QSCRKSMEED ERQTGREHAV AISLSHTSCK SQSCGDDSHS SSSSSSSSSS
SSSSSCPGNS GDWDPSSFLS AHKLSGLWNS PHSSGAMPGS SLGSPPTIPG EAFPVSEHHQ
HSDLTAPPNS PTGHHPQPAS LIPSHPSSFG SPPHPHLLPT TPAAPFPAQA SECPVAAATA
PHTPGPCQSS HLPSTSMPLL KMPPPFSGCS HPCSGHCGGH CSGPLLPPPS SQPLPSTHRD
PGCKGHKFAH SGLACQLPQP CEADEGLGEE EDSSSERSSC TSSSTHQRDG KFCDCCYCEF
FGHNAPPAAP TSRNYTEIRE KLRSRLTRRK EELPMKGGTL GGIPGEPAVD HRDVDELLEF
INSTEPKVPN SARAAKRARH KLKKKEKEKA QLAAEALKQA NRVSGSREPR PARERLLEWP
DRELDRVNSF LSSRLQEIKN TVKDSIRASF SVCELSMDSN GFSKEGAAEP EPQSLPPSNL
SGSSEQQPDI NLDLSPLTLG SPQNHTLQAP GEPAPPWAEM RGPHPPWTEV RGPPPGIVPE
NGLVRRLNTV PNLSRVIWVK TPKPGYPSSE EPSSKEVPSC KQELPEPVSS GGKPQKGKRQ
GSQAKKSEAS PAPRPPASLE VPSAKGQVAG PKQPGRVLEL PKVGSCAEAG EGSRGSRPGP
GWAGSPKTEK EKGSSWRNWP GEAKARPQEQ ESVQPSGPAR PQSLPQGKGR SRRSRNKQEK
PASSLDDVFL PKDMDGVEMD ETDREVEYFK RFCLDSAKQT RQKVAVNWTN FSLKKTTPST
AQ
