T2H2L_HUMAN
ID T2H2L_HUMAN Reviewed; 395 AA.
AC Q6P1K8; A6NED9; A8K8J6; B2RCU4; B7ZW39;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=General transcription factor IIH subunit 2-like protein;
DE AltName: Full=General transcription factor IIH polypeptide 2-like protein;
GN Name=GTF2H2C;
GN and
GN Name=GTF2H2C_2; Synonyms=GTF2H2D;
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].
RC TISSUE=Stomach, and Testis;
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=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Liver, and 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).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Component of the core-TFIIH basal transcription factor
CC involved in nucleotide excision repair (NER) of DNA and, when complexed
CC to CAK, in RNA transcription by RNA polymerase II. {ECO:0000250}.
CC -!- INTERACTION:
CC Q6P1K8; Q86Y13: DZIP3; NbExp=3; IntAct=EBI-8469755, EBI-948630;
CC Q6P1K8; P18074: ERCC2; NbExp=3; IntAct=EBI-8469755, EBI-6380590;
CC Q6P1K8; Q8N2R8: FAM43A; NbExp=3; IntAct=EBI-8469755, EBI-18138055;
CC Q6P1K8; Q13889: GTF2H3; NbExp=5; IntAct=EBI-8469755, EBI-6380459;
CC Q6P1K8; O00482-2: NR5A2; NbExp=3; IntAct=EBI-8469755, EBI-9257474;
CC Q6P1K8; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-8469755, EBI-741158;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the GTF2H2 family. {ECO:0000305}.
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DR EMBL; AK292361; BAF85050.1; -; mRNA.
DR EMBL; AK315282; BAG37691.1; -; mRNA.
DR EMBL; AC147575; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC064557; AAH64557.1; -; mRNA.
DR EMBL; BC065021; AAH65021.1; -; mRNA.
DR EMBL; BC105980; AAI05981.1; -; mRNA.
DR EMBL; BC171860; AAI71860.1; -; mRNA.
DR CCDS; CCDS43325.1; -.
DR RefSeq; NP_001035955.1; NM_001042490.3.
DR RefSeq; NP_001092198.1; NM_001098728.1.
DR RefSeq; XP_005248645.1; XM_005248588.4.
DR RefSeq; XP_005248647.1; XM_005248590.3.
DR RefSeq; XP_006714751.1; XM_006714688.3.
DR AlphaFoldDB; Q6P1K8; -.
DR SMR; Q6P1K8; -.
DR BioGRID; 608768; 24.
DR BioGRID; 610778; 21.
DR IntAct; Q6P1K8; 21.
DR MINT; Q6P1K8; -.
DR STRING; 9606.ENSP00000422907; -.
DR iPTMnet; Q6P1K8; -.
DR PhosphoSitePlus; Q6P1K8; -.
DR BioMuta; GTF2H2C; -.
DR DMDM; 74737138; -.
DR EPD; Q6P1K8; -.
DR jPOST; Q6P1K8; -.
DR MassIVE; Q6P1K8; -.
DR MaxQB; Q6P1K8; -.
DR PaxDb; Q6P1K8; -.
DR PeptideAtlas; Q6P1K8; -.
DR PRIDE; Q6P1K8; -.
DR ProteomicsDB; 66842; -.
DR Antibodypedia; 44086; 121 antibodies from 22 providers.
DR DNASU; 728340; -.
DR Ensembl; ENST00000380729.8; ENSP00000370105.3; ENSG00000183474.16.
DR Ensembl; ENST00000510979.5; ENSP00000422907.1; ENSG00000183474.16.
DR Ensembl; ENST00000619699.4; ENSP00000483148.1; ENSG00000274675.4.
DR Ensembl; ENST00000621406.4; ENSP00000480471.1; ENSG00000274675.4.
DR GeneID; 728340; -.
DR GeneID; 730394; -.
DR KEGG; hsa:728340; -.
DR KEGG; hsa:730394; -.
DR MANE-Select; ENST00000380729.8; ENSP00000370105.3; NM_001376000.2; NP_001362929.1.
DR UCSC; uc003jwy.6; human.
DR CTD; 728340; -.
DR CTD; 730394; -.
DR GeneCards; GTF2H2C; -.
DR GeneCards; GTF2H2C_2; -.
DR HGNC; HGNC:31394; GTF2H2C.
DR HGNC; HGNC:35418; GTF2H2C_2.
DR HPA; ENSG00000183474; Low tissue specificity.
DR neXtProt; NX_Q6P1K8; -.
DR OpenTargets; ENSG00000183474; -.
DR PharmGKB; PA164720349; -.
DR VEuPathDB; HostDB:ENSG00000183474; -.
DR eggNOG; KOG2807; Eukaryota.
DR GeneTree; ENSGT00490000043395; -.
DR HOGENOM; CLU_028556_1_0_1; -.
DR InParanoid; Q6P1K8; -.
DR OMA; PTICECH; -.
DR OrthoDB; 768809at2759; -.
DR PhylomeDB; Q6P1K8; -.
DR TreeFam; TF314037; -.
DR PathwayCommons; Q6P1K8; -.
DR SignaLink; Q6P1K8; -.
DR BioGRID-ORCS; 728340; 602 hits in 973 CRISPR screens.
DR BioGRID-ORCS; 730394; 23 hits in 124 CRISPR screens.
DR ChiTaRS; GTF2H2C; human.
DR Pharos; Q6P1K8; Tdark.
DR PRO; PR:Q6P1K8; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q6P1K8; protein.
DR Bgee; ENSG00000183474; Expressed in calcaneal tendon and 191 other tissues.
DR ExpressionAtlas; Q6P1K8; baseline and differential.
DR Genevisible; Q6P1K8; HS.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0000439; C:transcription factor TFIIH core complex; IEA:InterPro.
DR GO; GO:0005675; C:transcription factor TFIIH holo complex; IBA:GO_Central.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0006289; P:nucleotide-excision repair; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006351; P:transcription, DNA-templated; IEA:InterPro.
DR CDD; cd01453; vWA_transcription_factor_IIH_type; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR046349; C1-like_sf.
DR InterPro; IPR007198; Ssl1-like.
DR InterPro; IPR004595; TFIIH_C1-like_dom.
DR InterPro; IPR012170; TFIIH_SSL1/p44.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR Pfam; PF07975; C1_4; 1.
DR Pfam; PF04056; Ssl1; 1.
DR PIRSF; PIRSF015919; TFIIH_SSL1; 1.
DR SMART; SM01047; C1_4; 1.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
DR SUPFAM; SSF57889; SSF57889; 1.
DR TIGRFAMs; TIGR00622; ssl1; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 1: Evidence at protein level;
KW DNA damage; DNA repair; Metal-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..395
FT /note="General transcription factor IIH subunit 2-like
FT protein"
FT /id="PRO_0000332132"
FT DOMAIN 60..236
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT ZN_FING 291..308
FT /note="C4-type"
FT MOD_RES 95
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:A0JN27"
FT CONFLICT 57
FT /note="M -> I (in Ref. 1; BAF85050)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 395 AA; 44452 MW; 3BBD377500E04B9A CRC64;
MDEEPERTKR WEGGYERTWE ILKEDESGSL KATIEDILFK AKRKRVFEHH GQVRLGMMRH
LYVVVDGSRT MEDQDLKPNR LTCTLKLLEY FVEEYFDQNP ISQIGIIVTK SKRAEKLTEL
SGNPRKHITS LKEAVDMTCH GEPSLYNSLS MAMQTLKHMP GHTSREVLII FSSLTTCDPS
NIYDLIKTLK AAKIRVSVIG LSAEVRVCTV LARETGGTYH VILDESHYKE LLTHHLSPPP
ASSSSECSLI RMGFPQHTIA SLSDQDAKPS FSMAHLDGNT EPGLTLGGYF CPQCRAKYCE
LPVECKICGL TLVSAPHLAR SYHHLFPLDA FQEIPLEEYN GERFCYGCQG ELKDQHVYVC
AVCQNVFCVD CDVFVHDSLH CCPGCIHKIP APSGV
