TCHL1_HUMAN
ID TCHL1_HUMAN Reviewed; 904 AA.
AC Q5QJ38; B2RPK8; Q5VTJ9;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-JAN-2005, sequence version 1.
DT 25-MAY-2022, entry version 126.
DE RecName: Full=Trichohyalin-like protein 1;
DE AltName: Full=Basalin;
DE AltName: Full=Protein S100-A17;
DE AltName: Full=S100 calcium-binding protein A17;
GN Name=TCHHL1; Synonyms=S100A17, THHL1;
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 [MRNA].
RC TISSUE=Skin;
RA Wu Z., Schroeder J.M.;
RT "Human intermediate filament-associated protein family.";
RL Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases.
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 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 -!- SIMILARITY: Belongs to the S-100 family. {ECO:0000305}.
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DR EMBL; AY456639; AAS13485.1; -; mRNA.
DR EMBL; AL591893; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53391.1; -; Genomic_DNA.
DR EMBL; BC137493; AAI37494.1; -; mRNA.
DR CCDS; CCDS30857.1; -.
DR RefSeq; NP_001008536.1; NM_001008536.1.
DR AlphaFoldDB; Q5QJ38; -.
DR SMR; Q5QJ38; -.
DR BioGRID; 126005; 5.
DR STRING; 9606.ENSP00000357796; -.
DR iPTMnet; Q5QJ38; -.
DR PhosphoSitePlus; Q5QJ38; -.
DR BioMuta; TCHHL1; -.
DR DMDM; 74743107; -.
DR MassIVE; Q5QJ38; -.
DR PaxDb; Q5QJ38; -.
DR PeptideAtlas; Q5QJ38; -.
DR PRIDE; Q5QJ38; -.
DR ProteomicsDB; 63618; -.
DR Antibodypedia; 34081; 110 antibodies from 25 providers.
DR DNASU; 126637; -.
DR Ensembl; ENST00000368806.2; ENSP00000357796.1; ENSG00000182898.4.
DR GeneID; 126637; -.
DR KEGG; hsa:126637; -.
DR MANE-Select; ENST00000368806.2; ENSP00000357796.1; NM_001008536.2; NP_001008536.1.
DR UCSC; uc001ezo.1; human.
DR CTD; 126637; -.
DR DisGeNET; 126637; -.
DR GeneCards; TCHHL1; -.
DR HGNC; HGNC:31796; TCHHL1.
DR HPA; ENSG00000182898; Not detected.
DR neXtProt; NX_Q5QJ38; -.
DR OpenTargets; ENSG00000182898; -.
DR PharmGKB; PA134982007; -.
DR VEuPathDB; HostDB:ENSG00000182898; -.
DR eggNOG; ENOG502RU01; Eukaryota.
DR GeneTree; ENSGT00940000162966; -.
DR HOGENOM; CLU_017117_1_0_1; -.
DR InParanoid; Q5QJ38; -.
DR OMA; DYGRTSE; -.
DR OrthoDB; 769793at2759; -.
DR PhylomeDB; Q5QJ38; -.
DR TreeFam; TF337503; -.
DR PathwayCommons; Q5QJ38; -.
DR BioGRID-ORCS; 126637; 9 hits in 1060 CRISPR screens.
DR GenomeRNAi; 126637; -.
DR Pharos; Q5QJ38; Tdark.
DR PRO; PR:Q5QJ38; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5QJ38; protein.
DR Bgee; ENSG00000182898; Expressed in skin of abdomen and 2 other tissues.
DR GO; GO:0046914; F:transition metal ion binding; IEA:InterPro.
DR CDD; cd00213; S-100; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR034325; S-100_dom.
DR InterPro; IPR013787; S100_Ca-bd_sub.
DR InterPro; IPR042937; TCHHL1.
DR PANTHER; PTHR47612; PTHR47612; 1.
DR Pfam; PF01023; S_100; 1.
DR SMART; SM01394; S_100; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..904
FT /note="Trichohyalin-like protein 1"
FT /id="PRO_0000341543"
FT DOMAIN 48..83
FT /note="EF-hand"
FT REGION 102..792
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 858..890
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 115..149
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 159..189
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 190..220
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 221..248
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 254..269
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 270..303
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 325..342
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 351..372
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 383..416
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 463..477
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 535..601
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 658..673
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 701..715
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 716..738
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 768..784
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 193
FT /note="A -> G (in dbSNP:rs16833835)"
FT /id="VAR_044083"
SQ SEQUENCE 904 AA; 99275 MW; 6ED5641594E029D7 CRC64;
MPQLLRNVLC VIETFHKYAS EDSNGATLTG RELKQLIQGE FGDFFQPCVL HAVEKNSNLL
NIDSNGIISF DEFVLAIFNL LNLCYLDIKS LLSSELRQVT KPEKEKLDDV DVQATTGDGQ
WTVGTSPTQE KRMLPSGMAS SSQLIPEESG AVGNNRVDPW REAKTHNFPG EASEHNDPKN
KHLEGDEQSQ EVAQDIQTTE DNEGQLKTNK PMAGSKKTSS PTERKGQDKE ISQEGDEPAR
EQSVSKIRDQ FGEQEGNLAT QSSPPKEATQ RPCEDQEVRT EKEKHSNIQE PPLQREDEPS
SQHADLPEQA AARSPSQTQK STDSKDVCRM FDTQEPGKDA DQTPAKTKNL GEPEDYGRTS
ETQEKECETK DLPVQYGSRN GSETSDMRDE RKERRGPEAH GTAGQKERDR KTRPLVLETQ
TQDGKYQELQ GLSKSKDAEK GSETQYLSSE GGDQTHPELE GTAVSGEEAE HTKEGTAEAF
VNSKNAPAAE RTLGARERTQ DLAPLEKQSV GENTRVTKTH DQPVEEEDGY QGEDPESPFT
QSDEGSSETP NSLASEEGNS SSETGELPVQ GDSQSQGDQH GESVQGGHNN NPDTQRQGTP
GEKNRALEAV VPAVRGEDVQ LTEDQEQPAR GEHKNQGPGT KGPGAAVEPN GHPEAQESTA
GDENRKSLEI EITGALDEDF TDQLSLMQLP GKGDSRNELK VQGPSSKEEK GRATEAQNTL
LESLDEDNSA SLKIQLETKE PVTSEEEDES PQELAGEGGD QKSPAKKEHN SSVPWSSLEK
QMQRDQEPCS VERGAVYSSP LYQYLQEKIL QQTNVTQEEH QKQVQIAQAS GPELCSVSLT
SEISDCSVFF NYSQASQPYT RGLPLDESPA GAQETPAPQA LEDKQGHPQR ERLVLQREAS
TTKQ
