TTC13_HUMAN
ID TTC13_HUMAN Reviewed; 860 AA.
AC Q8NBP0; B1AQI1; B1AQI2; Q8IVP8; Q8NBI0; Q8ND20;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Tetratricopeptide repeat protein 13;
DE Short=TPR repeat protein 13;
GN Name=TTC13; ORFNames=PSEC0076;
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=Teratocarcinoma;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 331-860 (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 358-860 (ISOFORM 2).
RC TISSUE=Skin;
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=Q8NBP0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NBP0-2; Sequence=VSP_011644, VSP_035660;
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DR EMBL; AK075386; BAC11586.1; -; mRNA.
DR EMBL; AK075561; BAC11700.1; -; mRNA.
DR EMBL; AL834453; CAD39113.1; -; mRNA.
DR EMBL; AL844165; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; FO393421; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042683; AAH42683.1; -; mRNA.
DR CCDS; CCDS1588.1; -. [Q8NBP0-1]
DR CCDS; CCDS44332.2; -. [Q8NBP0-2]
DR RefSeq; NP_001116307.2; NM_001122835.2. [Q8NBP0-2]
DR RefSeq; NP_078801.3; NM_024525.4. [Q8NBP0-1]
DR AlphaFoldDB; Q8NBP0; -.
DR SMR; Q8NBP0; -.
DR BioGRID; 122720; 116.
DR IntAct; Q8NBP0; 7.
DR MINT; Q8NBP0; -.
DR STRING; 9606.ENSP00000355621; -.
DR iPTMnet; Q8NBP0; -.
DR PhosphoSitePlus; Q8NBP0; -.
DR BioMuta; TTC13; -.
DR DMDM; 212276494; -.
DR EPD; Q8NBP0; -.
DR jPOST; Q8NBP0; -.
DR MassIVE; Q8NBP0; -.
DR MaxQB; Q8NBP0; -.
DR PaxDb; Q8NBP0; -.
DR PeptideAtlas; Q8NBP0; -.
DR PRIDE; Q8NBP0; -.
DR ProteomicsDB; 72804; -. [Q8NBP0-1]
DR ProteomicsDB; 72805; -. [Q8NBP0-2]
DR Antibodypedia; 2494; 62 antibodies from 13 providers.
DR DNASU; 79573; -.
DR Ensembl; ENST00000366661.9; ENSP00000355621.4; ENSG00000143643.13. [Q8NBP0-1]
DR Ensembl; ENST00000366662.8; ENSP00000355622.4; ENSG00000143643.13. [Q8NBP0-2]
DR GeneID; 79573; -.
DR KEGG; hsa:79573; -.
DR MANE-Select; ENST00000366661.9; ENSP00000355621.4; NM_024525.5; NP_078801.3.
DR UCSC; uc001huf.5; human. [Q8NBP0-1]
DR CTD; 79573; -.
DR DisGeNET; 79573; -.
DR GeneCards; TTC13; -.
DR HGNC; HGNC:26204; TTC13.
DR HPA; ENSG00000143643; Low tissue specificity.
DR neXtProt; NX_Q8NBP0; -.
DR OpenTargets; ENSG00000143643; -.
DR PharmGKB; PA134931681; -.
DR VEuPathDB; HostDB:ENSG00000143643; -.
DR eggNOG; KOG4626; Eukaryota.
DR GeneTree; ENSGT00940000158461; -.
DR HOGENOM; CLU_014101_1_0_1; -.
DR InParanoid; Q8NBP0; -.
DR OMA; SWHDVYS; -.
DR OrthoDB; 118570at2759; -.
DR PhylomeDB; Q8NBP0; -.
DR TreeFam; TF332283; -.
DR PathwayCommons; Q8NBP0; -.
DR SignaLink; Q8NBP0; -.
DR BioGRID-ORCS; 79573; 11 hits in 1078 CRISPR screens.
DR ChiTaRS; TTC13; human.
DR GenomeRNAi; 79573; -.
DR Pharos; Q8NBP0; Tdark.
DR PRO; PR:Q8NBP0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8NBP0; protein.
DR Bgee; ENSG00000143643; Expressed in granulocyte and 167 other tissues.
DR ExpressionAtlas; Q8NBP0; baseline and differential.
DR Genevisible; Q8NBP0; HS.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR001440; TPR_1.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF00515; TPR_1; 1.
DR Pfam; PF13181; TPR_8; 1.
DR SMART; SM00028; TPR; 6.
DR SUPFAM; SSF48452; SSF48452; 2.
DR PROSITE; PS50005; TPR; 6.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..860
FT /note="Tetratricopeptide repeat protein 13"
FT /id="PRO_0000106398"
FT REPEAT 143..176
FT /note="TPR 1"
FT REPEAT 216..248
FT /note="TPR 2"
FT REPEAT 249..282
FT /note="TPR 3"
FT REPEAT 284..316
FT /note="TPR 4"
FT REPEAT 317..350
FT /note="TPR 5"
FT REPEAT 352..384
FT /note="TPR 6"
FT REPEAT 386..418
FT /note="TPR 7"
FT VAR_SEQ 172..224
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16303743, ECO:0000303|PubMed:17974005"
FT /id="VSP_011644"
FT VAR_SEQ 662
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16303743, ECO:0000303|PubMed:17974005"
FT /id="VSP_035660"
FT CONFLICT 38
FT /note="G -> R (in Ref. 1; BAC11700)"
FT /evidence="ECO:0000305"
FT CONFLICT 438
FT /note="Y -> H (in Ref. 1; BAC11586)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 860 AA; 96813 MW; 75747278086D7160 CRC64;
MAPAGCCCCC CFWGGAVAAA GAARRVLLLL LLGVLSAGLR PGALATEHYS PLSLLKQELQ
HRQQQEAPAG GGGCSPQSGD WGDQYSAECG ESSFLNFHDS DCEPKGSSPC DSLLSLNTEK
ILSQAKSIAE QKRFPFATDN DSTNEELAIA YVLIGSGLYD EAIRHFSTML QEEPDLVSAI
YGRGIAYGKK GLHDIKNAEL ALFELSRVIT LEPDRPEVFE QRAEILSPLG RINEAVNDLT
KAIQLQPSAR LYRHRGTLYF ISEDYATAHE DFQQSLELNK NQPIAMLYKG LTFFHRGLLK
EAIESFKEAL KQKVDFIDAY KSLGQAYREL GNFEAATESF QKALLLNQNH VQTLQLRGMM
LYHHGSLQEA LKNFKRCLQL EPYNEVCQYM KGLSHVAMGQ FYEGIKAQTK VMLNDPLPGQ
KASPEYLKVK YLREYSRYLH AHLDTPLTEY NIDVDLPGSF KDHWAKNLPF LIEDYEEQPG
LQPHIKDVLH QNFESYKPEV QELICVADRL GSLMQYETPG FLPNKRIHRA MGLAALEVMQ
AVQRTWTNSK VRMNGKTRLM QWRDMFDIAV KWRRIADPDQ PVLWLDQMPA RSLSRGFNNH
INLIRGQVIN MRYLEYFEKI LHFIKDRILV YHGANNPKGL LEVREALEKV HKVEDLLPIM
KQFNTKTKDG FTVNTKVPSL KDQGKEYDGF TITITGDKVG NILFSVETQT TEERTQLYHA
EIDALYKDLT AKGKVLILSS EFGEADAVCN LILSLVYYFY NLMPLSRGSS VIAYSVIVGA
LMASGKEVAG KIPKGKLVDF EAMTAPGSEA FSKVAKSWMN LKSISPSYKT LPSVSETFPT
LRSMIEVLNT DSSPRCLKKL
