CCSE1_HUMAN
ID CCSE1_HUMAN Reviewed; 900 AA.
AC Q9C0I3; Q4W5M0; Q86V57;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Serine-rich coiled-coil domain-containing protein 1;
DE AltName: Full=Coiled-coil serine-rich protein 1;
GN Name=CCSER1; Synonyms=FAM190A, KIAA1680;
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 1).
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
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] (ISOFORM 2).
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).
CC -!- INTERACTION:
CC Q9C0I3-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-17793327, EBI-7116203;
CC Q9C0I3-2; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-17793327, EBI-11742507;
CC Q9C0I3-2; Q15691: MAPRE1; NbExp=3; IntAct=EBI-17793327, EBI-1004115;
CC Q9C0I3-2; Q9UPY8: MAPRE3; NbExp=3; IntAct=EBI-17793327, EBI-726739;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9C0I3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C0I3-2; Sequence=VSP_035318, VSP_035319;
CC -!- SIMILARITY: Belongs to the CCSER family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB21771.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB051467; BAB21771.1; ALT_INIT; mRNA.
DR EMBL; AC093729; AAY41009.1; -; Genomic_DNA.
DR EMBL; AC004054; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC019188; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC074124; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC079301; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093793; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC096897; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC097524; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC110774; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC110796; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC114787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC051694; AAH51694.1; -; mRNA.
DR CCDS; CCDS47099.1; -. [Q9C0I3-1]
DR CCDS; CCDS47100.1; -. [Q9C0I3-2]
DR RefSeq; NP_001138537.1; NM_001145065.1. [Q9C0I3-1]
DR RefSeq; NP_997374.1; NM_207491.2. [Q9C0I3-2]
DR AlphaFoldDB; Q9C0I3; -.
DR SMR; Q9C0I3; -.
DR BioGRID; 134948; 15.
DR ELM; Q9C0I3; -.
DR IntAct; Q9C0I3; 7.
DR STRING; 9606.ENSP00000425040; -.
DR iPTMnet; Q9C0I3; -.
DR PhosphoSitePlus; Q9C0I3; -.
DR BioMuta; CCSER1; -.
DR DMDM; 205815669; -.
DR jPOST; Q9C0I3; -.
DR MassIVE; Q9C0I3; -.
DR MaxQB; Q9C0I3; -.
DR PaxDb; Q9C0I3; -.
DR PeptideAtlas; Q9C0I3; -.
DR PRIDE; Q9C0I3; -.
DR ProteomicsDB; 80053; -. [Q9C0I3-1]
DR ProteomicsDB; 80054; -. [Q9C0I3-2]
DR Antibodypedia; 44922; 85 antibodies from 17 providers.
DR DNASU; 401145; -.
DR Ensembl; ENST00000432775.6; ENSP00000389283.2; ENSG00000184305.16. [Q9C0I3-2]
DR Ensembl; ENST00000509176.6; ENSP00000425040.1; ENSG00000184305.16. [Q9C0I3-1]
DR GeneID; 401145; -.
DR KEGG; hsa:401145; -.
DR MANE-Select; ENST00000509176.6; ENSP00000425040.1; NM_001145065.2; NP_001138537.1.
DR UCSC; uc003hsv.5; human. [Q9C0I3-1]
DR CTD; 401145; -.
DR DisGeNET; 401145; -.
DR GeneCards; CCSER1; -.
DR HGNC; HGNC:29349; CCSER1.
DR HPA; ENSG00000184305; Tissue enhanced (brain, retina).
DR MIM; 618934; gene.
DR neXtProt; NX_Q9C0I3; -.
DR OpenTargets; ENSG00000184305; -.
DR PharmGKB; PA165663936; -.
DR VEuPathDB; HostDB:ENSG00000184305; -.
DR eggNOG; ENOG502QXW4; Eukaryota.
DR GeneTree; ENSGT00940000153912; -.
DR HOGENOM; CLU_011774_0_0_1; -.
DR InParanoid; Q9C0I3; -.
DR OMA; TDWPLQG; -.
DR OrthoDB; 308075at2759; -.
DR PhylomeDB; Q9C0I3; -.
DR TreeFam; TF331021; -.
DR PathwayCommons; Q9C0I3; -.
DR SignaLink; Q9C0I3; -.
DR BioGRID-ORCS; 401145; 46 hits in 1057 CRISPR screens.
DR ChiTaRS; CCSER1; human.
DR GenomeRNAi; 401145; -.
DR Pharos; Q9C0I3; Tbio.
DR PRO; PR:Q9C0I3; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9C0I3; protein.
DR Bgee; ENSG00000184305; Expressed in right testis and 100 other tissues.
DR ExpressionAtlas; Q9C0I3; baseline and differential.
DR Genevisible; Q9C0I3; HS.
DR InterPro; IPR029627; CCSER.
DR InterPro; IPR029628; CCSER1.
DR PANTHER; PTHR22461; PTHR22461; 1.
DR PANTHER; PTHR22461:SF1; PTHR22461:SF1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..900
FT /note="Serine-rich coiled-coil domain-containing protein 1"
FT /id="PRO_0000349292"
FT REGION 1..100
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 156..178
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 673..707
FT /evidence="ECO:0000255"
FT COMPBIAS 27..63
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 80..100
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 160..174
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 671..677
FT /note="DIMKDEC -> TTYPREF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035318"
FT VAR_SEQ 678..900
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035319"
FT VARIANT 382
FT /note="G -> S (in dbSNP:rs12647859)"
FT /id="VAR_059336"
SQ SEQUENCE 900 AA; 99510 MW; 9F47FA3E08D2CDF7 CRC64;
MGDSGSRRST LVSRLPIFRR SINRRHDSLP SSPSSSNTVG VHSSSPSSTN SSSGSTGKRR
SIFRTPSISF HHKKGSEPKQ EPTNQNLSIS NGAQPGHSNM QKLSLEEHIK TRGRHSVGFS
SSRNKKITRS LTEDFEREKE HSTNKNVFIN CLSSGKSEGD DSGFTEDQTR RSVKQSTRKL
LPKSFSSHYK FSKPVLQSQS ISLVQQSEFS LEVTQYQERE PVLVRASPSC SVDVTERAGS
SLQSPLLSAD LTTAQTPSEF LALTEDSVSE MDAFSKSGSM ASHCDNFGHN DSTSQMSLNS
AAVTKTTTEL TGTVPCAIMS PGKYRLEGQC STESNSLPET SAANQKEVLL QIAELPATSV
SHSESNLPAD SEREENIGLQ NGETMLGTNS PRKLGFYEQH KAIAEHVKGI HPISDSKIIP
TSGDHHIFNK TSHGYEANPA KVLASSLSPF REGRFIERRL RSSSEGTAGS SRMILKPKDG
NIEEVNSLRK QRAGSSSSKM NSLDVLNNLG SCELDEDDLM LDLEFLEEQS LHPSVCREDS
YHSVVSCAAV VLTPMEPMIE MKKREEPEFP EPSKQNLSLK LTKDVDQEAR CSHISRMPNS
PSADWPLQGV EENGGIDSLP FRLMLQDCTA VKTLLLKMKR VLQESADMSP ASSTTSLPVS
PLTEEPVPFK DIMKDECSML KLQLKEKDEL ISQLQEELGK VRHLQKAFAS RVDKSTQTEL
LCYDGLNLKR LETVQGGREA TYRNRIVSQN LSTRDRKAIH TPTEDRFRYS AADQTSPYKN
KTCQLPSLCL SNFLKDKELA EVIKHSRGTY ETLTSDVTQN LRATVGQSSL KPTAKTEGLS
TFLEKPKDQV ATARQHSTFT GRFGQPPRGP ISLHMYSRKN VFLHHNLHST ELQTLGQQDG
