FA98C_HUMAN
ID FA98C_HUMAN Reviewed; 349 AA.
AC Q17RN3; A6NMW3; Q66K45;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-JUL-2006, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Protein FAM98C;
GN Name=FAM98C;
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 GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 14-349 (ISOFORM 2).
RC TISSUE=Brain, and Skin;
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).
CC -!- INTERACTION:
CC Q17RN3; G5E9A7: DMWD; NbExp=3; IntAct=EBI-5461838, EBI-10976677;
CC Q17RN3; Q01658: DR1; NbExp=3; IntAct=EBI-5461838, EBI-750300;
CC Q17RN3; P28799: GRN; NbExp=3; IntAct=EBI-5461838, EBI-747754;
CC Q17RN3; Q00403: GTF2B; NbExp=3; IntAct=EBI-5461838, EBI-389564;
CC Q17RN3; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-5461838, EBI-1054873;
CC Q17RN3; P04792: HSPB1; NbExp=3; IntAct=EBI-5461838, EBI-352682;
CC Q17RN3; O60333-2: KIF1B; NbExp=3; IntAct=EBI-5461838, EBI-10975473;
CC Q17RN3; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-5461838, EBI-396669;
CC Q17RN3; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-5461838, EBI-5235340;
CC Q17RN3; Q13148: TARDBP; NbExp=6; IntAct=EBI-5461838, EBI-372899;
CC Q17RN3; Q86WV8: TSC1; NbExp=3; IntAct=EBI-5461838, EBI-12806590;
CC Q17RN3; O76024: WFS1; NbExp=3; IntAct=EBI-5461838, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q17RN3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q17RN3-2; Sequence=VSP_024142, VSP_024143;
CC -!- SIMILARITY: Belongs to the FAM98 family. {ECO:0000305}.
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DR EMBL; AC005789; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC080606; AAH80606.1; -; mRNA.
DR EMBL; BC117258; AAI17259.1; -; mRNA.
DR CCDS; CCDS42562.1; -. [Q17RN3-1]
DR CCDS; CCDS86763.1; -. [Q17RN3-2]
DR RefSeq; NP_777565.3; NM_174905.3. [Q17RN3-1]
DR AlphaFoldDB; Q17RN3; -.
DR SMR; Q17RN3; -.
DR BioGRID; 127106; 4.
DR IntAct; Q17RN3; 14.
DR MINT; Q17RN3; -.
DR STRING; 9606.ENSP00000252530; -.
DR iPTMnet; Q17RN3; -.
DR MetOSite; Q17RN3; -.
DR PhosphoSitePlus; Q17RN3; -.
DR BioMuta; FAM98C; -.
DR DMDM; 121940586; -.
DR EPD; Q17RN3; -.
DR jPOST; Q17RN3; -.
DR MassIVE; Q17RN3; -.
DR MaxQB; Q17RN3; -.
DR PaxDb; Q17RN3; -.
DR PeptideAtlas; Q17RN3; -.
DR PRIDE; Q17RN3; -.
DR ProteomicsDB; 61159; -. [Q17RN3-1]
DR ProteomicsDB; 61160; -. [Q17RN3-2]
DR Antibodypedia; 48092; 33 antibodies from 12 providers.
DR DNASU; 147965; -.
DR Ensembl; ENST00000252530.10; ENSP00000252530.4; ENSG00000130244.13. [Q17RN3-1]
DR Ensembl; ENST00000343358.11; ENSP00000340348.6; ENSG00000130244.13. [Q17RN3-2]
DR GeneID; 147965; -.
DR KEGG; hsa:147965; -.
DR MANE-Select; ENST00000252530.10; ENSP00000252530.4; NM_174905.4; NP_777565.3.
DR UCSC; uc002oin.2; human. [Q17RN3-1]
DR CTD; 147965; -.
DR DisGeNET; 147965; -.
DR GeneCards; FAM98C; -.
DR HGNC; HGNC:27119; FAM98C.
DR HPA; ENSG00000130244; Low tissue specificity.
DR neXtProt; NX_Q17RN3; -.
DR OpenTargets; ENSG00000130244; -.
DR PharmGKB; PA142671779; -.
DR VEuPathDB; HostDB:ENSG00000130244; -.
DR eggNOG; KOG3973; Eukaryota.
DR GeneTree; ENSGT00440000037341; -.
DR HOGENOM; CLU_038408_0_0_1; -.
DR InParanoid; Q17RN3; -.
DR OMA; ASAFHWT; -.
DR OrthoDB; 800008at2759; -.
DR PhylomeDB; Q17RN3; -.
DR TreeFam; TF320308; -.
DR PathwayCommons; Q17RN3; -.
DR SignaLink; Q17RN3; -.
DR BioGRID-ORCS; 147965; 31 hits in 1082 CRISPR screens.
DR ChiTaRS; FAM98C; human.
DR GenomeRNAi; 147965; -.
DR Pharos; Q17RN3; Tdark.
DR PRO; PR:Q17RN3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q17RN3; protein.
DR Bgee; ENSG00000130244; Expressed in right hemisphere of cerebellum and 163 other tissues.
DR ExpressionAtlas; Q17RN3; baseline and differential.
DR Genevisible; Q17RN3; HS.
DR GO; GO:0072669; C:tRNA-splicing ligase complex; IBA:GO_Central.
DR InterPro; IPR018797; FAM98.
DR PANTHER; PTHR31353; PTHR31353; 1.
DR Pfam; PF10239; DUF2465; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..349
FT /note="Protein FAM98C"
FT /id="PRO_0000282428"
FT REGION 313..349
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 186..211
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024142"
FT VAR_SEQ 251..306
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024143"
FT VARIANT 240
FT /note="T -> K (in dbSNP:rs3745962)"
FT /id="VAR_049030"
SQ SEQUENCE 349 AA; 37329 MW; B53925695FC7F358 CRC64;
MEAVKAEAWE GAAVAQDLLA LGYGGVPGAA SRGASCPDFR GLCVRLAAEL ATLGALEQQR
EAGAEVLSAG DGPGAEEDFL RQLGSLLREL HCPDRALCGG DGAAALREPG AGLRLLRFLC
SELQATRLLC LRSLLDPSPR PPLGEGVVEG AGMVQELDLT LQALGLPRPA PGTPASQLLQ
ELHAKISELQ PSLPPGSLQP LLSCSLDAPR WEALESLSQS LRDQYRCRRC LLLKRLDLTT
SAFHWSDRAE AQGEAMRAVL IPIREVLTPE SDISIAHVLA ARADLSCLVP ATSVAVRRGT
CCAINKVLMG NVPDRGGRPN ELEPPMPTWR SRREDGGPQC WGRKKKKKK
