F193A_HUMAN
ID F193A_HUMAN Reviewed; 1265 AA.
AC P78312; B7ZM85; B9EGR0; E9PFA1; O43607; P78311; P78313; Q9UEG8;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Protein FAM193A;
DE AltName: Full=Protein IT14;
GN Name=FAM193A; Synonyms=C4orf8; ORFNames=RES4-22;
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 AND 4), AND VARIANT VAL-192.
RC TISSUE=Fetal brain;
RX PubMed=9734812; DOI=10.1093/dnares/5.3.177;
RA Hadano S., Ishida Y., Ikeda J.-E.;
RT "The primary structure and genomic organization of five novel transcripts
RT located close to the Huntington's disease gene on human chromosome
RT 4p16.3.";
RL DNA Res. 5:177-186(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6), AND VARIANT
RP VAL-1115.
RC TISSUE=Testis;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 1-878 (ISOFORM 4).
RA Pribill I., Barnes G.T., Chen J., Church D., Buckler A., Baxendale S.,
RA Bates G.P., Lehrach H., Gusella M.J., Duyao M.P., Ambrose C.M.,
RA MacDonald M.E., Gusella J.F.;
RT "Comparison of exon trapping and sequence-based methods of gene finding.";
RL Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-642, AND IDENTIFICATION BY
RP 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 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 [7]
RP IDENTIFICATION BY 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 [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1144, AND IDENTIFICATION BY
RP 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-383; SER-642; SER-1129 AND
RP SER-1144, AND 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 P78312; Q93009: USP7; NbExp=2; IntAct=EBI-2873877, EBI-302474;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=RES4-22B;
CC IsoId=P78312-1; Sequence=Displayed;
CC Name=2; Synonyms=RES4-22A;
CC IsoId=P78312-2; Sequence=VSP_014615;
CC Name=3; Synonyms=RES4-22C;
CC IsoId=P78312-3; Sequence=VSP_014616, VSP_014617;
CC Name=4; Synonyms=RES4-22D;
CC IsoId=P78312-4; Sequence=VSP_014614;
CC Name=5;
CC IsoId=P78312-5; Sequence=VSP_045574, VSP_045575, VSP_014615;
CC Name=6;
CC IsoId=P78312-6; Sequence=VSP_014615, VSP_047163;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the FAM193 family. {ECO:0000305}.
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DR EMBL; AB000459; BAA19116.1; -; mRNA.
DR EMBL; AB000460; BAA19117.1; -; mRNA.
DR EMBL; AB000461; BAA19118.1; ALT_SEQ; mRNA.
DR EMBL; AB001563; BAA31858.1; -; mRNA.
DR EMBL; AL110117; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC136646; AAI36647.1; -; mRNA.
DR EMBL; BC144340; AAI44341.1; -; mRNA.
DR EMBL; AF040966; AAB97012.1; -; mRNA.
DR CCDS; CCDS33943.1; -. [P78312-2]
DR CCDS; CCDS58874.1; -. [P78312-5]
DR CCDS; CCDS58875.1; -. [P78312-1]
DR CCDS; CCDS58876.1; -. [P78312-6]
DR RefSeq; NP_001243595.1; NM_001256666.1. [P78312-1]
DR RefSeq; NP_001243596.1; NM_001256667.1. [P78312-5]
DR RefSeq; NP_001243597.1; NM_001256668.1. [P78312-6]
DR RefSeq; NP_003695.3; NM_003704.3. [P78312-2]
DR RefSeq; XP_006713993.2; XM_006713930.2.
DR AlphaFoldDB; P78312; -.
DR SMR; P78312; -.
DR BioGRID; 114163; 54.
DR IntAct; P78312; 7.
DR STRING; 9606.ENSP00000324587; -.
DR GlyGen; P78312; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P78312; -.
DR PhosphoSitePlus; P78312; -.
DR BioMuta; FAM193A; -.
DR DMDM; 71152365; -.
DR EPD; P78312; -.
DR jPOST; P78312; -.
DR MassIVE; P78312; -.
DR MaxQB; P78312; -.
DR PaxDb; P78312; -.
DR PeptideAtlas; P78312; -.
DR PRIDE; P78312; -.
DR ProteomicsDB; 20059; -.
DR ProteomicsDB; 57553; -. [P78312-1]
DR ProteomicsDB; 57554; -. [P78312-2]
DR ProteomicsDB; 57555; -. [P78312-3]
DR ProteomicsDB; 57556; -. [P78312-4]
DR ProteomicsDB; 7529; -.
DR Antibodypedia; 50867; 22 antibodies from 9 providers.
DR DNASU; 8603; -.
DR Ensembl; ENST00000324666.9; ENSP00000324587.5; ENSG00000125386.16. [P78312-1]
DR Ensembl; ENST00000382839.7; ENSP00000372290.3; ENSG00000125386.16. [P78312-2]
DR Ensembl; ENST00000502458.5; ENSP00000427505.1; ENSG00000125386.16. [P78312-5]
DR Ensembl; ENST00000505311.5; ENSP00000421200.1; ENSG00000125386.16. [P78312-6]
DR Ensembl; ENST00000512465.5; ENSP00000423852.1; ENSG00000125386.16. [P78312-3]
DR Ensembl; ENST00000545951.5; ENSP00000443617.1; ENSG00000125386.16. [P78312-6]
DR GeneID; 8603; -.
DR KEGG; hsa:8603; -.
DR UCSC; uc003gfd.4; human. [P78312-1]
DR CTD; 8603; -.
DR DisGeNET; 8603; -.
DR GeneCards; FAM193A; -.
DR HGNC; HGNC:16822; FAM193A.
DR HPA; ENSG00000125386; Low tissue specificity.
DR neXtProt; NX_P78312; -.
DR OpenTargets; ENSG00000125386; -.
DR PharmGKB; PA165663979; -.
DR VEuPathDB; HostDB:ENSG00000125386; -.
DR eggNOG; ENOG502QVAZ; Eukaryota.
DR GeneTree; ENSGT00390000000973; -.
DR HOGENOM; CLU_003730_0_0_1; -.
DR InParanoid; P78312; -.
DR OMA; XDVFLPK; -.
DR OrthoDB; 171147at2759; -.
DR PhylomeDB; P78312; -.
DR TreeFam; TF330223; -.
DR PathwayCommons; P78312; -.
DR SignaLink; P78312; -.
DR BioGRID-ORCS; 8603; 15 hits in 1081 CRISPR screens.
DR ChiTaRS; FAM193A; human.
DR GeneWiki; FAM193A; -.
DR GenomeRNAi; 8603; -.
DR Pharos; P78312; Tdark.
DR PRO; PR:P78312; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; P78312; protein.
DR Bgee; ENSG00000125386; Expressed in sural nerve and 185 other tissues.
DR ExpressionAtlas; P78312; baseline and differential.
DR Genevisible; P78312; HS.
DR InterPro; IPR029717; FAM193.
DR InterPro; IPR031802; FAM193_C.
DR InterPro; IPR029719; FAM193A.
DR PANTHER; PTHR15109; PTHR15109; 1.
DR PANTHER; PTHR15109:SF2; PTHR15109:SF2; 1.
DR Pfam; PF15914; FAM193_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..1265
FT /note="Protein FAM193A"
FT /id="PRO_0000089430"
FT REGION 247..272
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 331..407
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 553..586
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 626..674
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 750..785
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 822..841
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 859..881
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 893..1163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 107..142
FT /evidence="ECO:0000255"
FT COILED 873..932
FT /evidence="ECO:0000255"
FT COILED 1093..1118
FT /evidence="ECO:0000255"
FT COMPBIAS 256..272
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 393..407
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 771..785
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 954..980
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1006..1022
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1090..1121
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1122..1142
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 293
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CGI1"
FT MOD_RES 383
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 642
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1129
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1144
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..146
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:9734812, ECO:0000303|Ref.4"
FT /id="VSP_014614"
FT VAR_SEQ 146
FT /note="Q -> QDLQTSVNKSIDTGTLVQSWLRGAA (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045574"
FT VAR_SEQ 292..293
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045575"
FT VAR_SEQ 786..792
FT /note="GKYCDCC -> ASSCTNK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:9734812"
FT /id="VSP_014616"
FT VAR_SEQ 793..1265
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:9734812"
FT /id="VSP_014617"
FT VAR_SEQ 1167..1207
FT /note="Missing (in isoform 2, isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:9734812"
FT /id="VSP_014615"
FT VAR_SEQ 1236..1265
FT /note="FCLDSARQTRQRLSINWSNFSLKKATFAAH -> DGVSPHCPGWSRTPGLK
FT (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_047163"
FT VARIANT 192
FT /note="M -> V (in dbSNP:rs17164077)"
FT /evidence="ECO:0000269|PubMed:9734812"
FT /id="VAR_022863"
FT VARIANT 1115
FT /note="I -> V (in dbSNP:rs17681870)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_056783"
SQ SEQUENCE 1265 AA; 139988 MW; 6B4EDD55B49AC9EE CRC64;
MKVRLLRQLS AAAKVKAPSG LQGPPQAHQF ISLLLEEYGA LCQAARSIST FLGTLENEHL
KKFQVTWELH NKHLFENLVF SEPLLQSNLP ALVSQIRLGT TTHDTCSEDT YSTLLQRYQR
SEEELRRVAE EWLECQKRID AYVDEQMTMK TKQRMLTEDW ELFKQRRFIE EQLTNKKAVT
GENNFTDTMR HMLSSRLSMP DCPNCNYRRR CACDDCSLSH ILTCGIMDPP VTDDIHIHQL
PLQVDPAPDY LAERSPPSVS SASSGSGSSS PITIQQHPRL ILTDSGSAPT FCSDDEDVAP
LSAKFADIYP LSNYDDTEVV ANMNGIHSEL NGGGENMALK DESPQISSTS SSSSEADDEE
ADGESSGEPP GAPKEDGVLG SRSPRTEESK ADSPPPSYPT QQAEQAPNTC ECHVCKQEAS
GLTPSAMTAG ALPPGHQFLS PEKPTHPALH LYPHIHGHVP LHTVPHLPRP LIHPTLYATP
PFTHSKALPP APVQNHTNKH QVFNASLQDH IYPSCFGNTP EWNSSKFISL WGSEVMNDKN
WNPGTFLPDT ISGSEILGPT LSETRPEALP PPSSNETPAV SDSKEKKNAA KKKCLYNFQD
AFMEANKVVM ATSSATSSVS CTATTVQSSN SQFRVSSKRP PSVGDVFHGI SKEDHRHSAP
AAPRNSPTGL APLPALSPAA LSPAALSPAS TPHLANLAAP SFPKTATTTP GFVDTRKSFC
PAPLPPATDG SISAPPSVCS DPDCEGHRCE NGVYDPQQDD GDESADEDSC SEHSSSTSTS
TNQKEGKYCD CCYCEFFGHG GPPAAPTSRN YAEMREKLRL RLTKRKEEQP KKMDQISERE
SVVDHRRVED LLQFINSSET KPVSSTRAAK RARHKQRKLE EKARLEAEAR AREHLHLQEE
QRRREEEEDE EEEEDRFKEE FQRLQELQKL RAVKKKKKER PSKDCPKLDM LTRNFQAATE
SVPNSGNIHN GSLEQTEEPE TSSHSPSRHM NHSEPRPGLG ADGDAADPVD TRDSKFLLPK
EVNGKQHEPL SFFFDIMQHH KEGNGKQKLR QTSKASSEPA RRPTEPPKAT EGQSKPRAQT
ESKAKVVDLM SITEQKREER KVNSNNNNKK QLNHIKDEKS NPTPMEPTSP GEHQQNSKLV
LAESPQPKGK NKKNKKKKGD RVNNSIDGVS LLLPSLGYNG AILAHCNLRL PGSSDCAASA
SQVVGITDDV FLPKDIDLDS VDMDETEREV EYFKRFCLDS ARQTRQRLSI NWSNFSLKKA
TFAAH
