CSTP1_HUMAN
ID CSTP1_HUMAN Reviewed; 331 AA.
AC Q9H6J7; D3DQQ8; E9PAX7; Q7L077; Q96CS8; Q9BQH4; Q9BUW5;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Centriolar satellite-associated tubulin polyglutamylase complex regulator 1 {ECO:0000305};
GN Name=CSTPP1 {ECO:0000312|HGNC:HGNC:28720}; Synonyms=C11orf49;
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).
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 MRNA] (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Blood, Colon, and 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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 242-326 (ISOFORM 4).
RC TISSUE=Optic nerve;
RX PubMed=8889548; DOI=10.1101/gr.6.9.791;
RA Bonaldo M.F., Lennon G., Soares M.B.;
RT "Normalization and subtraction: two approaches to facilitate gene
RT discovery.";
RL Genome Res. 6:791-806(1996).
RN [8]
RP FUNCTION, INTERACTION WITH PCM1; TTLL1; TPGS1; TPGS2 AND LRRC49,
RP SUBCELLULAR LOCATION, AND MICROTUBULE-BINDING.
RX PubMed=34782749; DOI=10.1038/s41422-021-00584-9;
RA Wang L., Paudyal S.C., Kang Y., Owa M., Liang F.X., Spektor A., Knaut H.,
RA Sanchez I., Dynlacht B.D.;
RT "Regulators of tubulin polyglutamylation control nuclear shape and cilium
RT disassembly by balancing microtubule and actin assembly.";
RL Cell Res. 32:190-209(2022).
CC -!- FUNCTION: Regulator of the tubulin polyglutamylase complex (TPGC) that
CC controls cytoskeletal organization, nuclear shape, and cilium
CC disassembly by balancing microtubule and actin assembly
CC (PubMed:34782749). Regulates the assembly and stability of the TPGC and
CC thereby modulates polyglutamylation of the microtubule, which
CC antagonizes MAP4 binding (PubMed:34782749).
CC {ECO:0000269|PubMed:34782749}.
CC -!- SUBUNIT: Interacts with PCM1 (PubMed:34782749). Interacts with TTLL1,
CC TPGS1, TPGS2 and LRRC49; the interactions link CSTPP1 to the complex
CC TPGC (PubMed:34782749). Binds to alpha-tubulin (PubMed:34782749).
CC {ECO:0000269|PubMed:34782749}.
CC -!- INTERACTION:
CC Q9H6J7; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-721300, EBI-10171633;
CC Q9H6J7; Q9H0T7: RAB17; NbExp=3; IntAct=EBI-721300, EBI-721615;
CC Q9H6J7; Q6FGU7: RAB7L1; NbExp=3; IntAct=EBI-721300, EBI-10249635;
CC Q9H6J7-2; P02649: APOE; NbExp=3; IntAct=EBI-13328871, EBI-1222467;
CC Q9H6J7-2; Q9NPA8: ENY2; NbExp=3; IntAct=EBI-13328871, EBI-719226;
CC Q9H6J7-2; P07954: FH; NbExp=3; IntAct=EBI-13328871, EBI-1050358;
CC Q9H6J7-2; P28676: GCA; NbExp=3; IntAct=EBI-13328871, EBI-947242;
CC Q9H6J7-2; P42858: HTT; NbExp=6; IntAct=EBI-13328871, EBI-466029;
CC Q9H6J7-2; Q92597: NDRG1; NbExp=3; IntAct=EBI-13328871, EBI-716486;
CC Q9H6J7-2; O43189: PHF1; NbExp=3; IntAct=EBI-13328871, EBI-530034;
CC Q9H6J7-2; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-13328871, EBI-10171633;
CC Q9H6J7-2; P10644: PRKAR1A; NbExp=3; IntAct=EBI-13328871, EBI-476431;
CC Q9H6J7-2; Q99757: TXN2; NbExp=3; IntAct=EBI-13328871, EBI-2932492;
CC Q9H6J7-2; Q15911-2: ZFHX3; NbExp=3; IntAct=EBI-13328871, EBI-10237226;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome, centriolar satellite {ECO:0000269|PubMed:34782749}.
CC Cytoplasm, cytoskeleton {ECO:0000269|PubMed:34782749}. Note=Associated
CC with microtubules. {ECO:0000269|PubMed:34782749}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9H6J7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H6J7-2; Sequence=VSP_024000;
CC Name=3;
CC IsoId=Q9H6J7-3; Sequence=VSP_024001;
CC Name=4;
CC IsoId=Q9H6J7-4; Sequence=VSP_044902;
CC -!- SIMILARITY: Belongs to the CSTPP1 family. {ECO:0000305}.
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DR EMBL; AK025863; BAB15262.1; -; mRNA.
DR EMBL; CR457351; CAG33632.1; -; mRNA.
DR EMBL; AL136575; CAB66510.2; -; mRNA.
DR EMBL; AC021573; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090470; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090589; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC103792; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471064; EAW67970.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67972.1; -; Genomic_DNA.
DR EMBL; BC001860; AAH01860.1; -; mRNA.
DR EMBL; BC009455; AAH09455.1; -; mRNA.
DR EMBL; BC013988; AAH13988.1; -; mRNA.
DR EMBL; BC052291; AAH52291.1; -; mRNA.
DR EMBL; BU728094; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS31479.1; -. [Q9H6J7-4]
DR CCDS; CCDS31480.1; -. [Q9H6J7-2]
DR CCDS; CCDS41641.1; -. [Q9H6J7-3]
DR CCDS; CCDS7925.1; -. [Q9H6J7-1]
DR RefSeq; NP_001003676.1; NM_001003676.2. [Q9H6J7-3]
DR RefSeq; NP_001003677.1; NM_001003677.2. [Q9H6J7-2]
DR RefSeq; NP_001003678.1; NM_001003678.2. [Q9H6J7-4]
DR RefSeq; NP_077018.1; NM_024113.4. [Q9H6J7-1]
DR AlphaFoldDB; Q9H6J7; -.
DR BioGRID; 122543; 71.
DR IntAct; Q9H6J7; 37.
DR MINT; Q9H6J7; -.
DR STRING; 9606.ENSP00000367878; -.
DR iPTMnet; Q9H6J7; -.
DR PhosphoSitePlus; Q9H6J7; -.
DR BioMuta; C11orf49; -.
DR DMDM; 134035405; -.
DR MassIVE; Q9H6J7; -.
DR MaxQB; Q9H6J7; -.
DR PaxDb; Q9H6J7; -.
DR PeptideAtlas; Q9H6J7; -.
DR PRIDE; Q9H6J7; -.
DR ProteomicsDB; 19101; -.
DR ProteomicsDB; 80990; -. [Q9H6J7-1]
DR ProteomicsDB; 80991; -. [Q9H6J7-2]
DR ProteomicsDB; 80992; -. [Q9H6J7-3]
DR Antibodypedia; 42909; 42 antibodies from 17 providers.
DR DNASU; 79096; -.
DR Ensembl; ENST00000278460.12; ENSP00000278460.8; ENSG00000149179.14. [Q9H6J7-1]
DR Ensembl; ENST00000378615.7; ENSP00000367878.3; ENSG00000149179.14. [Q9H6J7-2]
DR Ensembl; ENST00000378618.6; ENSP00000367881.2; ENSG00000149179.14. [Q9H6J7-4]
DR Ensembl; ENST00000395460.6; ENSP00000378844.2; ENSG00000149179.14. [Q9H6J7-3]
DR GeneID; 79096; -.
DR KEGG; hsa:79096; -.
DR MANE-Select; ENST00000278460.12; ENSP00000278460.8; NM_024113.5; NP_077018.1.
DR UCSC; uc001ndp.5; human. [Q9H6J7-1]
DR CTD; 79096; -.
DR DisGeNET; 79096; -.
DR GeneCards; C11orf49; -.
DR HGNC; HGNC:28720; CSTPP1.
DR HPA; ENSG00000149179; Low tissue specificity.
DR neXtProt; NX_Q9H6J7; -.
DR OpenTargets; ENSG00000149179; -.
DR VEuPathDB; HostDB:ENSG00000149179; -.
DR eggNOG; ENOG502QRVN; Eukaryota.
DR GeneTree; ENSGT00390000012935; -.
DR HOGENOM; CLU_064579_0_0_1; -.
DR InParanoid; Q9H6J7; -.
DR OMA; NIHHRRK; -.
DR OrthoDB; 1103030at2759; -.
DR PhylomeDB; Q9H6J7; -.
DR TreeFam; TF329168; -.
DR PathwayCommons; Q9H6J7; -.
DR SignaLink; Q9H6J7; -.
DR BioGRID-ORCS; 79096; 10 hits in 1053 CRISPR screens.
DR ChiTaRS; C11orf49; human.
DR GeneWiki; C11orf49; -.
DR GenomeRNAi; 79096; -.
DR Pharos; Q9H6J7; Tdark.
DR PRO; PR:Q9H6J7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9H6J7; protein.
DR Bgee; ENSG00000149179; Expressed in lateral nuclear group of thalamus and 184 other tissues.
DR ExpressionAtlas; Q9H6J7; baseline and differential.
DR Genevisible; Q9H6J7; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell.
DR InterPro; IPR038968; C11orf49.
DR PANTHER; PTHR34252; PTHR34252; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Cytoskeleton; Microtubule; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..331
FT /note="Centriolar satellite-associated tubulin
FT polyglutamylase complex regulator 1"
FT /id="PRO_0000281425"
FT REGION 1..225
FT /note="Required for interaction with TPGS1, LRRC49, and
FT TTLL1"
FT /evidence="ECO:0000269|PubMed:34782749"
FT REGION 1..111
FT /note="Required for interaction with PCM1"
FT /evidence="ECO:0000269|PubMed:34782749"
FT REGION 112..331
FT /note="Required for interaction with TPGS2"
FT /evidence="ECO:0000269|PubMed:34782749"
FT REGION 288..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 319
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BHR8"
FT VAR_SEQ 274
FT /note="L -> LLLPFFR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_024000"
FT VAR_SEQ 275..331
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024001"
FT VAR_SEQ 275..331
FT /note="LAQVPGLVNSVTASPEASCLPSRTPPRVGSPWRPLHHSRKVDGESDGSTEET
FT DESET -> VVRSKLHRTSRQHRAKEPGAFGFQRREKQEALERVSSASVPTPYHYRWEP
FT RE (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:8889548"
FT /id="VSP_044902"
FT CONFLICT 88
FT /note="T -> A (in Ref. 1; BAB15262)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 331 AA; 37353 MW; 7D1973A9984EE429 CRC64;
MLSPERLALP DYEYLAQRHV LTYMEDAVCQ LLENREDISQ YGIARFFTEY FNSVCQGTHI
LFREFSFVQA TPHNRVSFLR AFWRCFRTVG KNGDLLTMKE YHCLLQLLCP DFPLELTQKA
ARIVLMDDAM DCLMSFSDFL FAFQIQFYYS EFLDSVAAIY EDLLSGKNPN TVIVPTSSSG
QHRQRPALGG AGTLEGVEAS LFYQCLENLC DRHKYSCPPP ALVKEALSNV QRLTFYGFLM
ALSKHRGINQ ALGALPDKGD LMHDPAMDEE LERLLAQVPG LVNSVTASPE ASCLPSRTPP
RVGSPWRPLH HSRKVDGESD GSTEETDESE T
