GenomeNet

Database: UniProt
Entry: Q5TAA0
LinkDB: Q5TAA0
Original site: Q5TAA0 
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   24-JAN-2024, entry version 138.
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;
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
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; 9606-ENSP00000360323; -.
DR   PeptideAtlas; Q5TAA0; -.
DR   ProteomicsDB; 64839; -. [Q5TAA0-1]
DR   ProteomicsDB; 64840; -. [Q5TAA0-2]
DR   Antibodypedia; 33220; 25 antibodies from 14 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   AGR; HGNC:26067; -.
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; HHRALAW; -.
DR   OrthoDB; 2995522at2759; -.
DR   PhylomeDB; Q5TAA0; -.
DR   TreeFam; TF331828; -.
DR   PathwayCommons; Q5TAA0; -.
DR   BioGRID-ORCS; 55001; 12 hits in 1140 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 142 other cell types or tissues.
DR   ExpressionAtlas; Q5TAA0; baseline and differential.
DR   Genevisible; Q5TAA0; HS.
DR   Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 2.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR019734; TPR_repeat.
DR   InterPro; IPR042342; TTC22.
DR   PANTHER; PTHR16253; TETRATRICOPEPTIDE REPEAT PROTEIN 22; 1.
DR   PANTHER; PTHR16253:SF0; TETRATRICOPEPTIDE REPEAT PROTEIN 22; 1.
DR   Pfam; PF13181; TPR_8; 1.
DR   SMART; SM00028; TPR; 3.
DR   SUPFAM; SSF48452; TPR-like; 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
//
DBGET integrated database retrieval system