ITPI1_HUMAN
ID ITPI1_HUMAN Reviewed; 1044 AA.
AC Q6ZRS4; A2RU17; B3KTI9; B4DHB0; B4E2R1; F5H3V5;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-AUG-2010, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Protein ITPRID1 {ECO:0000305};
DE AltName: Full=Coiled-coil domain-containing protein 129;
DE AltName: Full=ITPR-interacting domain-containing protein 1 {ECO:0000305};
GN Name=ITPRID1 {ECO:0000312|HGNC:HGNC:27363};
GN Synonyms=CCDC129 {ECO:0000312|HGNC:HGNC:27363};
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 1; 2; 3 AND 4), AND
RP VARIANTS ASP-32; ARG-377; VAL-490 AND TYR-809.
RC TISSUE=Fetal brain, Testis, and Trachea;
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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASP-32;
RP ARG-377; VAL-490 AND TYR-809.
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 VARIANT [LARGE SCALE ANALYSIS] VAL-105.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6ZRS4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZRS4-2; Sequence=VSP_039587;
CC Name=3;
CC IsoId=Q6ZRS4-3; Sequence=VSP_039586;
CC Name=4;
CC IsoId=Q6ZRS4-4; Sequence=VSP_045000, VSP_045001;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG65223.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK095663; BAG53101.1; -; mRNA.
DR EMBL; AK128026; BAC87235.1; -; mRNA.
DR EMBL; AK295011; BAG58071.1; -; mRNA.
DR EMBL; AK304387; BAG65223.1; ALT_INIT; mRNA.
DR EMBL; AC005090; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006044; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC132719; AAI32720.1; -; mRNA.
DR CCDS; CCDS5435.2; -. [Q6ZRS4-1]
DR CCDS; CCDS75577.1; -. [Q6ZRS4-1]
DR RefSeq; NP_001244896.1; NM_001257967.2. [Q6ZRS4-1]
DR RefSeq; NP_001244897.1; NM_001257968.2.
DR RefSeq; NP_919276.2; NM_194300.4. [Q6ZRS4-1]
DR RefSeq; XP_011513515.1; XM_011515213.1. [Q6ZRS4-1]
DR RefSeq; XP_016867360.1; XM_017011871.1. [Q6ZRS4-1]
DR AlphaFoldDB; Q6ZRS4; -.
DR SMR; Q6ZRS4; -.
DR BioGRID; 128824; 1.
DR STRING; 9606.ENSP00000395835; -.
DR iPTMnet; Q6ZRS4; -.
DR PhosphoSitePlus; Q6ZRS4; -.
DR BioMuta; CCDC129; -.
DR DMDM; 302393683; -.
DR MassIVE; Q6ZRS4; -.
DR PaxDb; Q6ZRS4; -.
DR PeptideAtlas; Q6ZRS4; -.
DR PRIDE; Q6ZRS4; -.
DR ProteomicsDB; 26385; -.
DR ProteomicsDB; 68165; -. [Q6ZRS4-1]
DR ProteomicsDB; 68166; -. [Q6ZRS4-2]
DR ProteomicsDB; 68167; -. [Q6ZRS4-3]
DR Antibodypedia; 12709; 52 antibodies from 13 providers.
DR DNASU; 223075; -.
DR Ensembl; ENST00000319386.7; ENSP00000313062.3; ENSG00000180347.14. [Q6ZRS4-2]
DR Ensembl; ENST00000407970.7; ENSP00000384416.3; ENSG00000180347.14. [Q6ZRS4-1]
DR Ensembl; ENST00000409210.1; ENSP00000387214.1; ENSG00000180347.14. [Q6ZRS4-3]
DR Ensembl; ENST00000451887.6; ENSP00000395835.2; ENSG00000180347.14. [Q6ZRS4-4]
DR Ensembl; ENST00000615280.5; ENSP00000478518.2; ENSG00000180347.14. [Q6ZRS4-1]
DR GeneID; 223075; -.
DR KEGG; hsa:223075; -.
DR MANE-Select; ENST00000615280.5; ENSP00000478518.2; NM_001257967.3; NP_001244896.2.
DR UCSC; uc003tci.2; human. [Q6ZRS4-1]
DR CTD; 223075; -.
DR DisGeNET; 223075; -.
DR GeneCards; ITPRID1; -.
DR HGNC; HGNC:27363; ITPRID1.
DR HPA; ENSG00000180347; Group enriched (brain, salivary gland).
DR neXtProt; NX_Q6ZRS4; -.
DR OpenTargets; ENSG00000180347; -.
DR PharmGKB; PA162381298; -.
DR VEuPathDB; HostDB:ENSG00000180347; -.
DR eggNOG; ENOG502QU3K; Eukaryota.
DR GeneTree; ENSGT00940000161762; -.
DR HOGENOM; CLU_313444_0_0_1; -.
DR InParanoid; Q6ZRS4; -.
DR OMA; MKMVCQS; -.
DR OrthoDB; 159347at2759; -.
DR PhylomeDB; Q6ZRS4; -.
DR TreeFam; TF331566; -.
DR PathwayCommons; Q6ZRS4; -.
DR BioGRID-ORCS; 223075; 14 hits in 1058 CRISPR screens.
DR ChiTaRS; CCDC129; human.
DR GenomeRNAi; 223075; -.
DR Pharos; Q6ZRS4; Tdark.
DR PRO; PR:Q6ZRS4; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6ZRS4; protein.
DR Bgee; ENSG00000180347; Expressed in ganglionic eminence and 72 other tissues.
DR ExpressionAtlas; Q6ZRS4; baseline and differential.
DR Genevisible; Q6ZRS4; HS.
DR GO; GO:0005102; F:signaling receptor binding; IEA:InterPro.
DR InterPro; IPR029325; ITPR-bd.
DR InterPro; IPR029326; SSFA2_C.
DR InterPro; IPR043444; TESPA1-like.
DR PANTHER; PTHR17469; PTHR17469; 1.
DR Pfam; PF14722; KRAP_IP3R_bind; 1.
DR Pfam; PF14723; SSFA2_C; 1.
DR SMART; SM01257; KRAP_IP3R_bind; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..1044
FT /note="Protein ITPRID1"
FT /id="PRO_0000270963"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 230..251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 388..489
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 583..607
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 896..937
FT /evidence="ECO:0000255"
FT COMPBIAS 398..425
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 438..489
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..92
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039586"
FT VAR_SEQ 1
FT /note="M -> MPTTASCKTISLLKLLYSVSLQNYSPM (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045000"
FT VAR_SEQ 244..391
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039587"
FT VAR_SEQ 998..1044
FT /note="GTQLAAFTPPTLENSTRMSPSSSAWAKLGPTPLSNCPVGEKDADVFL -> E
FT LLSAELDPFFFSSKANNSAKDEKIKSKDFLKTQDSGLL (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045001"
FT VARIANT 32
FT /note="A -> D (in dbSNP:rs7811042)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_033660"
FT VARIANT 105
FT /note="L -> V (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035496"
FT VARIANT 377
FT /note="H -> R (in dbSNP:rs10252720)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_063505"
FT VARIANT 490
FT /note="A -> V (in dbSNP:rs4141001)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_033661"
FT VARIANT 809
FT /note="C -> Y (in dbSNP:rs10247620)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_033662"
FT VARIANT 887
FT /note="H -> Y (in dbSNP:rs7799540)"
FT /id="VAR_033663"
FT CONFLICT 802
FT /note="P -> S (in Ref. 1; BAC87235)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1044 AA; 115403 MW; AADC89ADA69B8B7B CRC64;
MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT IPMLEDSKQE
SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD YMRSLHQFSE TPILSRGTSF
NSCYSTASVP QSIPEWLEFW EIDPVEILLD LGFGADEPDI CMQIPARFLG CGSAARGINI
RVFLEAQKQR MDIENPNLYG RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR
TSVSAAKEHR RRMGKLLRRA SKQNIRRDCN PEVSESFKVK DEVFVPFTKP WDCGAELAAT
SINHKQNHLS LSVEHQSLQA CDDLLPYPPH GLLSKQWPCS SMPAKQAPPS CVSEGSVKGR
TQKENLFQTN KLKSLSHLAG KGPDSFEMEE VQSFEEETGN PLDMTSGTVG ARVDRANSCQ
SDSSGFLEEP LEPLPLQMPS LPNSQSPAEN GGRKPRDQSH SLVSSQDCQL ESDGPDSKSR
ASMSFSSQEA NALEQRASVS VMEEEFLLEA MEGPPELYIP DMACAKTTTR GECPRKDSHL
WQLLPMPHAE YEVTRPTATS KYDHPLGFMV THVTEMQDSF VRPEGAGKVQ SHHNESQRSP
GNDHTQDKFL HVDSEAPREE ESSGFCPHTN HSLLVPESSS QCIPKHSEIT PYATDLAQTS
EKLIPHLHKL PGDPAQVKSR SGTLGQILPG TEAEMENLPL NTGSSRSVMT QMSSSLVSAA
QRAVALGTGP RGTSLECTVC DPVTATETRL GTKARQLNDA SIQTSALSNK TLTHGPQPLT
KSVSLDSGFS SICPMGTCHA IPAHCCICCH HHPHCHGERQ SPGPEPSVCR HCLCSLTGHQ
EAQFMTTLKA LQDTTVRELC SCTVHEMEAM KTICQSFREY LEEIEQHLMG QQALFSRDMS
EEEREEAEQL QTLREALRQQ VAELEFQLGD RAQQIREGIL LQLEVLTAEP PEHYSNLHQY
NWIEESNGQT SCSKIHPGMA PRTVFPPDDG QEAPCSGGTQ LAAFTPPTLE NSTRMSPSSS
AWAKLGPTPL SNCPVGEKDA DVFL
