CCSE2_HUMAN
ID CCSE2_HUMAN Reviewed; 834 AA.
AC Q9H7U1; B4DFY4; B4DQU9; B7WPE8; D3DWE2; Q8N6E9; Q9H2S0; Q9ULU1;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Serine-rich coiled-coil domain-containing protein 2;
DE AltName: Full=Coiled-coil serine-rich protein 2;
DE AltName: Full=Protein GCAP14 homolog;
GN Name=CCSER2; Synonyms=FAM190B, KIAA1128; ORFNames=NPD012;
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] (ISOFORMS 3 AND 4), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-110 (ISOFORMS 1/2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 8-730 (ISOFORM 1).
RC TISSUE=Amygdala, Placenta, and Teratocarcinoma;
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lung;
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 85-834 (ISOFORM 1).
RC TISSUE=Pituitary;
RA Cheng Z., Gao G., Peng Y., Ren S., Chen Z., Han Z.;
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 247-834 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-223, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=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 -!- FUNCTION: Microtubule-binding protein which might play a role in
CC microtubule bundling. {ECO:0000250|UniProtKB:Q3UHI0}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q3UHI0}. Note=Associates with microtubules in
CC interphase. Has diffuse expression throughout the cell during mitosis.
CC {ECO:0000250|UniProtKB:Q3UHI0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9H7U1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H7U1-2; Sequence=VSP_029180, VSP_029181;
CC Name=3;
CC IsoId=Q9H7U1-3; Sequence=VSP_040287;
CC Name=4;
CC IsoId=Q9H7U1-4; Sequence=VSP_054560;
CC -!- SIMILARITY: Belongs to the CCSER family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG44473.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH30528.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK024324; BAB14884.1; -; mRNA.
DR EMBL; AK294321; BAG57595.1; -; mRNA.
DR EMBL; AK298966; BAG61061.1; -; mRNA.
DR EMBL; DC366088; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC074321; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356115; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471142; EAW80350.1; -; Genomic_DNA.
DR EMBL; CH471142; EAW80352.1; -; Genomic_DNA.
DR EMBL; BC030528; AAH30528.1; ALT_INIT; mRNA.
DR EMBL; AF241785; AAG44473.1; ALT_FRAME; mRNA.
DR EMBL; AB032954; BAA86442.1; -; mRNA.
DR CCDS; CCDS31235.1; -. [Q9H7U1-1]
DR CCDS; CCDS60582.1; -. [Q9H7U1-3]
DR CCDS; CCDS60583.1; -. [Q9H7U1-4]
DR CCDS; CCDS73159.1; -. [Q9H7U1-2]
DR RefSeq; NP_001271169.1; NM_001284240.1. [Q9H7U1-3]
DR RefSeq; NP_001271170.1; NM_001284241.1. [Q9H7U1-2]
DR RefSeq; NP_001271171.1; NM_001284242.1.
DR RefSeq; NP_001271172.1; NM_001284243.1. [Q9H7U1-4]
DR RefSeq; NP_061872.2; NM_018999.3. [Q9H7U1-1]
DR RefSeq; XP_016871829.1; XM_017016340.1. [Q9H7U1-3]
DR AlphaFoldDB; Q9H7U1; -.
DR SMR; Q9H7U1; -.
DR BioGRID; 119968; 61.
DR IntAct; Q9H7U1; 24.
DR MINT; Q9H7U1; -.
DR STRING; 9606.ENSP00000361160; -.
DR GlyGen; Q9H7U1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H7U1; -.
DR PhosphoSitePlus; Q9H7U1; -.
DR BioMuta; CCSER2; -.
DR DMDM; 160386966; -.
DR EPD; Q9H7U1; -.
DR jPOST; Q9H7U1; -.
DR MassIVE; Q9H7U1; -.
DR MaxQB; Q9H7U1; -.
DR PaxDb; Q9H7U1; -.
DR PeptideAtlas; Q9H7U1; -.
DR PRIDE; Q9H7U1; -.
DR ProteomicsDB; 4088; -.
DR ProteomicsDB; 81148; -. [Q9H7U1-1]
DR ProteomicsDB; 81149; -. [Q9H7U1-2]
DR ProteomicsDB; 81150; -. [Q9H7U1-3]
DR Antibodypedia; 48922; 34 antibodies from 9 providers.
DR DNASU; 54462; -.
DR Ensembl; ENST00000224756.12; ENSP00000224756.8; ENSG00000107771.17. [Q9H7U1-1]
DR Ensembl; ENST00000359979.8; ENSP00000353068.4; ENSG00000107771.17. [Q9H7U1-2]
DR Ensembl; ENST00000372088.8; ENSP00000361160.2; ENSG00000107771.17. [Q9H7U1-3]
DR Ensembl; ENST00000543283.2; ENSP00000439944.1; ENSG00000107771.17. [Q9H7U1-4]
DR GeneID; 54462; -.
DR KEGG; hsa:54462; -.
DR MANE-Select; ENST00000372088.8; ENSP00000361160.2; NM_001284240.2; NP_001271169.1. [Q9H7U1-3]
DR UCSC; uc001kdg.3; human. [Q9H7U1-1]
DR CTD; 54462; -.
DR GeneCards; CCSER2; -.
DR HGNC; HGNC:29197; CCSER2.
DR HPA; ENSG00000107771; Low tissue specificity.
DR neXtProt; NX_Q9H7U1; -.
DR OpenTargets; ENSG00000107771; -.
DR PharmGKB; PA165548597; -.
DR VEuPathDB; HostDB:ENSG00000107771; -.
DR eggNOG; ENOG502QV4S; Eukaryota.
DR GeneTree; ENSGT00940000153912; -.
DR HOGENOM; CLU_499291_0_0_1; -.
DR InParanoid; Q9H7U1; -.
DR OMA; NCHQNSK; -.
DR OrthoDB; 1263802at2759; -.
DR PhylomeDB; Q9H7U1; -.
DR TreeFam; TF331021; -.
DR PathwayCommons; Q9H7U1; -.
DR SignaLink; Q9H7U1; -.
DR BioGRID-ORCS; 54462; 19 hits in 1079 CRISPR screens.
DR ChiTaRS; CCSER2; human.
DR GenomeRNAi; 54462; -.
DR Pharos; Q9H7U1; Tdark.
DR PRO; PR:Q9H7U1; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9H7U1; protein.
DR Bgee; ENSG00000107771; Expressed in sperm and 205 other tissues.
DR ExpressionAtlas; Q9H7U1; baseline and differential.
DR Genevisible; Q9H7U1; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0015630; C:microtubule cytoskeleton; IBA:GO_Central.
DR GO; GO:0008017; F:microtubule binding; IBA:GO_Central.
DR GO; GO:0001578; P:microtubule bundle formation; IBA:GO_Central.
DR InterPro; IPR029627; CCSER.
DR InterPro; IPR029629; CCSER2.
DR PANTHER; PTHR22461; PTHR22461; 1.
DR PANTHER; PTHR22461:SF2; PTHR22461:SF2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..834
FT /note="Serine-rich coiled-coil domain-containing protein 2"
FT /id="PRO_0000309461"
FT REGION 169..212
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 426..454
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 477..509
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 573..628
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 695..714
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 780..834
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 712..749
FT /evidence="ECO:0000255"
FT COMPBIAS 573..588
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 604..623
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 798..834
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 223
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 452
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3UHI0"
FT VAR_SEQ 1..573
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054560"
FT VAR_SEQ 539..567
FT /note="DILNNLESCDLEDDDLMLDVDLPEDAPLE -> VCMDLYTLGIFCLPYYRET
FT CDMIDFVKNL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029180"
FT VAR_SEQ 568..834
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029181"
FT VAR_SEQ 776..834
FT /note="GGYSAPSFSPWQGSFQGIPRTVPPHRRQTSSTTAFQQPSQTHRSHPGKTNKA
FT TTYRGPQ -> PQVLQPSSSLPRPTDHTQGKLIKPQRIEARSECSIQDMHQGGAHPEES
FT FTHVLHQESNYGLEEQPFSSGPQLTMDVAKSTPSEANLNITVNAQEPYHLANNQISDMQ
FT FIPTSLQTPPESSTVDQAKRVGRNQSPPVGYMSQPKSLQLLKPSILSSLVPPPVSESSP
FT SRTPTCKKSPIITTCNSAKLQPTSSQTNLANNQNLKASKLRPPSGSFKQKQTNSPQLEP
FT QSFQAKTSIPRPLTQRKEIMQNPNGNLHSGDCLASNRYSRLPKPKIH (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040287"
FT VARIANT 84
FT /note="N -> S (in dbSNP:rs3814205)"
FT /id="VAR_036952"
FT VARIANT 755
FT /note="C -> Y (in dbSNP:rs11201058)"
FT /id="VAR_036953"
FT VARIANT 819
FT /note="S -> P (in dbSNP:rs11557865)"
FT /id="VAR_036954"
FT VARIANT 821
FT /note="P -> S (in dbSNP:rs12569751)"
FT /id="VAR_036955"
FT CONFLICT 155
FT /note="G -> C (in Ref. 5; AAG44473)"
FT /evidence="ECO:0000305"
FT CONFLICT 215
FT /note="C -> Y (in Ref. 4; BAB14884)"
FT /evidence="ECO:0000305"
FT CONFLICT 457
FT /note="E -> G (in Ref. 4; BAB14884)"
FT /evidence="ECO:0000305"
FT CONFLICT 524
FT /note="V -> A (in Ref. 1; BAG61061)"
FT /evidence="ECO:0000305"
FT CONFLICT 540
FT /note="I -> V (in Ref. 1; BAG61061)"
FT /evidence="ECO:0000305"
FT CONFLICT 667
FT /note="H -> R (in Ref. 1; BAG61061)"
FT /evidence="ECO:0000305"
FT CONFLICT Q9H7U1-3:782
FT /note="S -> F (in Ref. 1; BAG61061)"
FT /evidence="ECO:0000305"
FT CONFLICT Q9H7U1-3:881
FT /note="M -> I (in Ref. 1; BAG61061)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 834 AA; 93548 MW; 036713F1975242A3 CRC64;
MEEKTQIKTF LGSKLPKYGT KSVRSTLQPM PNGTPVNLLG TSKNSNVKSY IKNNGSDCPS
SHSFNWRKAN KYQLCAQGVE EPNNTQNSHD KIIDPEKRVP TQGMFDKNGI KGGLKSVSLF
TSKLAKPSTM FVSSTEELNQ KSFSGPSNLG KFTKGTLLGR TSYSSINTPK SQLNGFYGNR
SAGSMQRPRA NSCATRSSSG ESLAQSPDSS KSINCEKMVR SQSFSHSIQN SFLPPSSITR
SHSFNRAVDL TKPYQNQQLS IRVPLRSSML TRNSRQPEVL NGNEHLGYGF NRPYAAGGKK
LALPNGPGVT STLGYRMVHP SLLKSSRSPF SGTMTVDGNK NSPADTCVEE DATVLAKDRA
ANKDQELIEN ESYRTKNNQT MKHDAKMRYL SDDVDDISLS SLSSSDKNDL SEDFSDDFID
IEDSNRTRIT PEEMSLKEEK HENGPPQDMF DSPKENEKAF SKTDEWIDIS VSDRSECTKH
TSGNNLVSPD TDYRAGSSFE LSPSDSSDGT YMWDEEGLEP IGNVHPVGSY ESSEMNSIDI
LNNLESCDLE DDDLMLDVDL PEDAPLENVE CDNMNRFDRP DRNVRQPQEG FWKRPPQRWS
GQEHYHLSHP DHYHHHGKSD LSRGSPYRES PLGHFESYGG MPFFQAQKMF VDVPENTVIL
DEMTLRHMVQ DCTAVKTQLL KLKRLLHQHD GSGSLHDIQL SLPSSPEPED GDKVYKNEDL
LNEIKQLKDE IKKKDEKIQL LELQLATQHI CHQKCKEEKC TYADKYTQTP WRRIPGGYSA
PSFSPWQGSF QGIPRTVPPH RRQTSSTTAF QQPSQTHRSH PGKTNKATTY RGPQ
