TUFT1_HUMAN
ID TUFT1_HUMAN Reviewed; 390 AA.
AC Q9NNX1; B2RD57; D3DV21; D3DV22; Q5T384; Q5T385; Q9BU28; Q9H5L1;
DT 02-AUG-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Tuftelin;
GN Name=TUFT1;
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 [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3).
RX PubMed=11733143; DOI=10.1016/s0378-1119(01)00749-1;
RA Mao Z., Shay B., Hekmati M., Fermon E., Taylor A., Dafni L.,
RA Heikinheimo K., Lustmann J., Fisher L.W., Young M.F., Deutsch D.;
RT "The human tuftelin gene: cloning and characterization.";
RL Gene 279:181-196(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Hepatoma, and Tongue;
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 [4]
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 [5]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney, and Placenta;
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 [7]
RP PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=7919663; DOI=10.1007/bf00357011;
RA Deutsch D., Palmon A., Young M.F., Selig S., Kearns W.G., Fisher L.W.;
RT "Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence
RT in situ hybridization.";
RL Mamm. Genome 5:461-462(1994).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=1874744; DOI=10.1016/s0021-9258(18)98510-8;
RA Deutsch D., Palmon A., Fisher L.W., Kolodny N., Termine J.D., Young M.F.;
RT "Sequencing of bovine enamelin ('tuftelin') a novel acidic enamel
RT protein.";
RL J. Biol. Chem. 266:16021-16028(1991).
CC -!- FUNCTION: Involved in the mineralization and structural organization of
CC enamel. {ECO:0000250|UniProtKB:P27628}.
CC -!- SUBUNIT: Interacts with TFIP11. {ECO:0000250|UniProtKB:O08970}.
CC -!- INTERACTION:
CC Q9NNX1; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-2557363, EBI-742887;
CC Q9NNX1; Q92993: KAT5; NbExp=3; IntAct=EBI-2557363, EBI-399080;
CC Q9NNX1; P25791: LMO2; NbExp=3; IntAct=EBI-2557363, EBI-739696;
CC Q9NNX1; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-2557363, EBI-11742507;
CC Q9NNX1; P14373: TRIM27; NbExp=4; IntAct=EBI-2557363, EBI-719493;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P27628}.
CC Note=Secreted at a very early stage of enamel formation, concentrated
CC at the dentin-enamel junction and tightly bound to the surface of the
CC growing crystallites. {ECO:0000250|UniProtKB:P27628}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NNX1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NNX1-2; Sequence=VSP_006685;
CC Name=3;
CC IsoId=Q9NNX1-3; Sequence=VSP_006686;
CC -!- TISSUE SPECIFICITY: Present in the extracellular enamel and is mainly
CC associated with the crystal component. {ECO:0000269|PubMed:1874744}.
CC -!- SIMILARITY: Belongs to the tuftelin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15615.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF254860; AAF78914.1; -; Genomic_DNA.
DR EMBL; AF254850; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254851; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254852; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254854; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254855; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254856; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254857; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254858; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254859; AAF78914.1; JOINED; Genomic_DNA.
DR EMBL; AF254260; AAF78913.1; -; mRNA.
DR EMBL; AL136917; CAB66851.1; -; mRNA.
DR EMBL; AK026989; BAB15615.1; ALT_INIT; mRNA.
DR EMBL; AK075001; BAC11346.1; -; mRNA.
DR EMBL; AK315414; BAG37804.1; -; mRNA.
DR EMBL; AL365436; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53429.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53430.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53431.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53433.1; -; Genomic_DNA.
DR EMBL; BC002933; AAH02933.1; -; mRNA.
DR EMBL; BC008301; AAH08301.1; -; mRNA.
DR CCDS; CCDS1000.1; -. [Q9NNX1-1]
DR CCDS; CCDS44223.1; -. [Q9NNX1-2]
DR RefSeq; NP_001119809.1; NM_001126337.1. [Q9NNX1-2]
DR RefSeq; NP_001288246.1; NM_001301317.1.
DR RefSeq; NP_064512.1; NM_020127.2. [Q9NNX1-1]
DR RefSeq; XP_011508263.1; XM_011509961.2. [Q9NNX1-3]
DR AlphaFoldDB; Q9NNX1; -.
DR SMR; Q9NNX1; -.
DR BioGRID; 113137; 64.
DR IntAct; Q9NNX1; 16.
DR MINT; Q9NNX1; -.
DR STRING; 9606.ENSP00000357842; -.
DR iPTMnet; Q9NNX1; -.
DR PhosphoSitePlus; Q9NNX1; -.
DR BioMuta; TUFT1; -.
DR DMDM; 22096213; -.
DR EPD; Q9NNX1; -.
DR jPOST; Q9NNX1; -.
DR MassIVE; Q9NNX1; -.
DR MaxQB; Q9NNX1; -.
DR PaxDb; Q9NNX1; -.
DR PeptideAtlas; Q9NNX1; -.
DR PRIDE; Q9NNX1; -.
DR ProteomicsDB; 81861; -. [Q9NNX1-1]
DR ProteomicsDB; 81862; -. [Q9NNX1-2]
DR ProteomicsDB; 81863; -. [Q9NNX1-3]
DR Antibodypedia; 34066; 110 antibodies from 21 providers.
DR DNASU; 7286; -.
DR Ensembl; ENST00000368848.6; ENSP00000357841.2; ENSG00000143367.17. [Q9NNX1-2]
DR Ensembl; ENST00000368849.8; ENSP00000357842.3; ENSG00000143367.17. [Q9NNX1-1]
DR GeneID; 7286; -.
DR KEGG; hsa:7286; -.
DR MANE-Select; ENST00000368849.8; ENSP00000357842.3; NM_020127.3; NP_064512.1.
DR UCSC; uc001eyl.3; human. [Q9NNX1-1]
DR CTD; 7286; -.
DR DisGeNET; 7286; -.
DR GeneCards; TUFT1; -.
DR HGNC; HGNC:12422; TUFT1.
DR HPA; ENSG00000143367; Tissue enhanced (skin).
DR MIM; 600087; gene.
DR neXtProt; NX_Q9NNX1; -.
DR OpenTargets; ENSG00000143367; -.
DR PharmGKB; PA37084; -.
DR VEuPathDB; HostDB:ENSG00000143367; -.
DR eggNOG; ENOG502QW76; Eukaryota.
DR GeneTree; ENSGT00950000183065; -.
DR InParanoid; Q9NNX1; -.
DR OMA; VPENDFR; -.
DR OrthoDB; 1003198at2759; -.
DR PhylomeDB; Q9NNX1; -.
DR TreeFam; TF331627; -.
DR PathwayCommons; Q9NNX1; -.
DR SignaLink; Q9NNX1; -.
DR BioGRID-ORCS; 7286; 8 hits in 1080 CRISPR screens.
DR ChiTaRS; TUFT1; human.
DR GeneWiki; Tuftelin; -.
DR GenomeRNAi; 7286; -.
DR Pharos; Q9NNX1; Tbio.
DR PRO; PR:Q9NNX1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9NNX1; protein.
DR Bgee; ENSG00000143367; Expressed in amniotic fluid and 183 other tissues.
DR ExpressionAtlas; Q9NNX1; baseline and differential.
DR Genevisible; Q9NNX1; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0005576; C:extracellular region; NAS:UniProtKB.
DR GO; GO:0030345; F:structural constituent of tooth enamel; NAS:UniProtKB.
DR GO; GO:0030282; P:bone mineralization; NAS:UniProtKB.
DR GO; GO:0035556; P:intracellular signal transduction; IBA:GO_Central.
DR GO; GO:0042476; P:odontogenesis; NAS:UniProtKB.
DR InterPro; IPR024846; Tuftelin.
DR PANTHER; PTHR23171:SF4; PTHR23171:SF4; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Biomineralization; Coiled coil; Reference proteome;
KW Secreted.
FT CHAIN 1..390
FT /note="Tuftelin"
FT /id="PRO_0000183186"
FT REGION 358..390
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 88..126
FT /evidence="ECO:0000255"
FT COILED 162..351
FT /evidence="ECO:0000255"
FT VAR_SEQ 21..79
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11733143"
FT /id="VSP_006686"
FT VAR_SEQ 21..45
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11733143,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_006685"
FT VARIANT 18
FT /note="Q -> R (in dbSNP:rs3828054)"
FT /id="VAR_052424"
FT VARIANT 296
FT /note="K -> R (in dbSNP:rs16833395)"
FT /id="VAR_034574"
FT CONFLICT 244
FT /note="Q -> R (in Ref. 3; BAB15615)"
FT /evidence="ECO:0000305"
FT CONFLICT 329
FT /note="K -> T (in Ref. 3; BAB15615)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 390 AA; 44264 MW; 332AF3C06665E8D0 CRC64;
MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT YAMVSSHSAG
HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK SEVQYIQEAR NCLQKLREDI
SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS PTALYSSPPE VDTCINEDVE SLRKTVQDLL
AKLQEAKRQH QSDCVAFEVT LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME
TEHQALLAKV REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR
KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK QISHGNFSTQ
ARAKTENPGS IRISKPPSPK PMPVIRVVET
