TTC22_HUMAN
ID TTC22_HUMAN Reviewed; 569 AA.
AC Q5TAA0; Q9NWT4;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Tetratricopeptide repeat protein 22;
DE Short=TPR repeat protein 22;
GN Name=TTC22;
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 2).
RC TISSUE=Carcinoma;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5TAA0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TAA0-2; Sequence=VSP_021859, VSP_021860;
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DR EMBL; AK000626; BAA91293.1; -; mRNA.
DR EMBL; AC096536; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139244; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS44152.1; -. [Q5TAA0-1]
DR CCDS; CCDS598.1; -. [Q5TAA0-2]
DR RefSeq; NP_001107580.1; NM_001114108.1. [Q5TAA0-1]
DR RefSeq; NP_060374.2; NM_017904.3. [Q5TAA0-2]
DR AlphaFoldDB; Q5TAA0; -.
DR BioGRID; 120333; 1.
DR STRING; 9606.ENSP00000360323; -.
DR iPTMnet; Q5TAA0; -.
DR PhosphoSitePlus; Q5TAA0; -.
DR BioMuta; TTC22; -.
DR DMDM; 74745799; -.
DR EPD; Q5TAA0; -.
DR jPOST; Q5TAA0; -.
DR MassIVE; Q5TAA0; -.
DR PaxDb; Q5TAA0; -.
DR PeptideAtlas; Q5TAA0; -.
DR PRIDE; Q5TAA0; -.
DR ProteomicsDB; 64839; -. [Q5TAA0-1]
DR ProteomicsDB; 64840; -. [Q5TAA0-2]
DR Antibodypedia; 33220; 23 antibodies from 13 providers.
DR DNASU; 55001; -.
DR Ensembl; ENST00000371274.8; ENSP00000360321.4; ENSG00000006555.11. [Q5TAA0-2]
DR Ensembl; ENST00000371276.9; ENSP00000360323.4; ENSG00000006555.11. [Q5TAA0-1]
DR GeneID; 55001; -.
DR KEGG; hsa:55001; -.
DR MANE-Select; ENST00000371276.9; ENSP00000360323.4; NM_001114108.2; NP_001107580.1.
DR UCSC; uc001cxz.5; human. [Q5TAA0-1]
DR CTD; 55001; -.
DR DisGeNET; 55001; -.
DR GeneCards; TTC22; -.
DR HGNC; HGNC:26067; TTC22.
DR HPA; ENSG00000006555; Tissue enhanced (esophagus, vagina).
DR neXtProt; NX_Q5TAA0; -.
DR OpenTargets; ENSG00000006555; -.
DR PharmGKB; PA142670674; -.
DR VEuPathDB; HostDB:ENSG00000006555; -.
DR eggNOG; ENOG502QPNX; Eukaryota.
DR GeneTree; ENSGT00390000007658; -.
DR HOGENOM; CLU_034944_1_0_1; -.
DR InParanoid; Q5TAA0; -.
DR OMA; RAKIHLR; -.
DR OrthoDB; 556124at2759; -.
DR PhylomeDB; Q5TAA0; -.
DR TreeFam; TF331828; -.
DR PathwayCommons; Q5TAA0; -.
DR BioGRID-ORCS; 55001; 10 hits in 1062 CRISPR screens.
DR GenomeRNAi; 55001; -.
DR Pharos; Q5TAA0; Tdark.
DR PRO; PR:Q5TAA0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TAA0; protein.
DR Bgee; ENSG00000006555; Expressed in esophagus squamous epithelium and 140 other tissues.
DR ExpressionAtlas; Q5TAA0; baseline and differential.
DR Genevisible; Q5TAA0; HS.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR042342; TTC22.
DR PANTHER; PTHR16253; PTHR16253; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..569
FT /note="Tetratricopeptide repeat protein 22"
FT /id="PRO_0000263098"
FT REPEAT 66..99
FT /note="TPR 1"
FT REPEAT 101..133
FT /note="TPR 2"
FT REPEAT 203..237
FT /note="TPR 3"
FT REPEAT 260..294
FT /note="TPR 4"
FT REPEAT 295..328
FT /note="TPR 5"
FT REPEAT 383..418
FT /note="TPR 6"
FT REPEAT 432..465
FT /note="TPR 7"
FT VAR_SEQ 341..372
FT /note="IHIRAYLHDLKRAKMGLGGMPDRNHLACAKAD -> RRGLTMLPRLVSNSWA
FT QAVLPPRPPKVLEFQV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021859"
FT VAR_SEQ 373..569
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021860"
FT VARIANT 14
FT /note="L -> V (in dbSNP:rs671108)"
FT /id="VAR_029585"
FT CONFLICT 229
FT /note="R -> H (in Ref. 1; BAA91293)"
FT /evidence="ECO:0000305"
FT CONFLICT 324
FT /note="V -> A (in Ref. 1; BAA91293)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 569 AA; 63361 MW; 95AFA00228FF6402 CRC64;
MAELEAVADD LDALIDDLDY LPGHFHLEMQ LNFEPRSPAP QRARDLKLQR EGLRQELQLA
AAPQRPAVRH LLGAFAFYLE ELDEARECFL EVAHEHPGNL NAWANLAHVY GRLGQEEEEE
ACAARLADLM GLAEEPEAAG DPQLRAARCL AEQGYAHGFD VGCASPEERA RGLAAGIALY
DKALGYGQQI PMEEKRGWYF TMATLYIRLD GIFLELGSEE QKRLPAFNRT LALLRQVLKS
EDPRHRALAW CYLGMLLERK DTFSTTPMGV HDCGYSGTDP LDCFGKAIEI AKNQPPILNR
LAKIFYFLGK QDMAIGTCNM ALDVLRDPEL NWQAYCTRAK IHIRAYLHDL KRAKMGLGGM
PDRNHLACAK ADLEEVVRVC PGFKAYLDIG QVYYYMGVDA VQELLAVDEA ALNQALVFLA
KAGESELGAT LPELQLLRGK CLRIKGEDAN AAACFKRAVE LDDAGSSHTD GFGCLLEALL
AQWSQAQLSD GELGREVDAW LRRAQDKYPA ARLRQELQRV WRGHTDEVLG LARALVAQGR
PALVRLLFET MEREGEGASA PRDRRAVSF
