TTC9B_HUMAN
ID TTC9B_HUMAN Reviewed; 239 AA.
AC Q8N6N2; A8K0I5; Q96NP9;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Tetratricopeptide repeat protein 9B;
DE Short=TPR repeat protein 9B;
GN Name=TTC9B;
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 AND 2).
RC TISSUE=Cerebellum;
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=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 [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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N6N2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6N2-2; Sequence=VSP_026650;
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to an intron retention.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the TTC9 family. {ECO:0000305}.
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DR EMBL; AK054935; BAB70830.1; -; mRNA.
DR EMBL; AK289550; BAF82239.1; -; mRNA.
DR EMBL; AC118344; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471126; EAW56938.1; -; Genomic_DNA.
DR EMBL; BC029539; AAH29539.1; -; mRNA.
DR CCDS; CCDS12550.1; -. [Q8N6N2-1]
DR RefSeq; NP_689692.2; NM_152479.5. [Q8N6N2-1]
DR AlphaFoldDB; Q8N6N2; -.
DR SMR; Q8N6N2; -.
DR BioGRID; 127113; 8.
DR IntAct; Q8N6N2; 6.
DR MINT; Q8N6N2; -.
DR STRING; 9606.ENSP00000311760; -.
DR iPTMnet; Q8N6N2; -.
DR PhosphoSitePlus; Q8N6N2; -.
DR BioMuta; TTC9B; -.
DR DMDM; 74759948; -.
DR MassIVE; Q8N6N2; -.
DR PaxDb; Q8N6N2; -.
DR PeptideAtlas; Q8N6N2; -.
DR PRIDE; Q8N6N2; -.
DR ProteomicsDB; 72202; -. [Q8N6N2-1]
DR ProteomicsDB; 72203; -. [Q8N6N2-2]
DR Antibodypedia; 30476; 53 antibodies from 15 providers.
DR DNASU; 148014; -.
DR Ensembl; ENST00000311308.7; ENSP00000311760.6; ENSG00000174521.8. [Q8N6N2-1]
DR GeneID; 148014; -.
DR KEGG; hsa:148014; -.
DR MANE-Select; ENST00000311308.7; ENSP00000311760.6; NM_152479.6; NP_689692.2.
DR UCSC; uc002onc.3; human. [Q8N6N2-1]
DR CTD; 148014; -.
DR DisGeNET; 148014; -.
DR GeneCards; TTC9B; -.
DR HGNC; HGNC:26395; TTC9B.
DR HPA; ENSG00000174521; Tissue enriched (brain).
DR neXtProt; NX_Q8N6N2; -.
DR OpenTargets; ENSG00000174521; -.
DR PharmGKB; PA142670684; -.
DR VEuPathDB; HostDB:ENSG00000174521; -.
DR eggNOG; ENOG502QQHT; Eukaryota.
DR GeneTree; ENSGT00940000161494; -.
DR HOGENOM; CLU_100621_1_0_1; -.
DR InParanoid; Q8N6N2; -.
DR OMA; RVREYCF; -.
DR OrthoDB; 1535136at2759; -.
DR PhylomeDB; Q8N6N2; -.
DR TreeFam; TF331917; -.
DR PathwayCommons; Q8N6N2; -.
DR SignaLink; Q8N6N2; -.
DR BioGRID-ORCS; 148014; 9 hits in 1063 CRISPR screens.
DR GenomeRNAi; 148014; -.
DR Pharos; Q8N6N2; Tdark.
DR PRO; PR:Q8N6N2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N6N2; protein.
DR Bgee; ENSG00000174521; Expressed in right hemisphere of cerebellum and 127 other tissues.
DR Genevisible; Q8N6N2; HS.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR013105; TPR_2.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF07719; TPR_2; 1.
DR SMART; SM00028; TPR; 2.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 1.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Phosphoprotein; Reference proteome; Repeat;
KW TPR repeat.
FT CHAIN 1..239
FT /note="Tetratricopeptide repeat protein 9B"
FT /id="PRO_0000294459"
FT REPEAT 65..99
FT /note="TPR 1"
FT REPEAT 171..204
FT /note="TPR 2"
FT REGION 1..57
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 99..126
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 13..30
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 7
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D6E4"
FT MOD_RES 27
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D6E4"
FT VAR_SEQ 143..239
FT /note="ACLLQSELVNYERVREYCLKVLEKQQGNFKATYRAGIAFYHLGDYARALRYL
FT QEARSREPTDTNVLRYIQLTQLKMNRCSLQREDSGAGSQTRDVIG -> GTPSGGGGMG
FT HEGRGQSGELGDLGARGPGAEGSRAVGFSGSLQSLIKERD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026650"
FT VARIANT 223
FT /note="L -> P (in dbSNP:rs11553464)"
FT /id="VAR_052625"
SQ SEQUENCE 239 AA; 25932 MW; 4976497A9B84ABD0 CRC64;
MQRGALSPVL MLSAAPEPPP RPPPALSPPG SGPGSGSRHG SARPGPTPEP SGSLGAALDS
SLRAAVAFKA EGQRCYREKK FREAIGKYHR ALLQLKAAQG ARPSGLPAPA PGPTSSPGPA
RLSEEQRRLV ESTEVECYDS LTACLLQSEL VNYERVREYC LKVLEKQQGN FKATYRAGIA
FYHLGDYARA LRYLQEARSR EPTDTNVLRY IQLTQLKMNR CSLQREDSGA GSQTRDVIG
