TAF7L_HUMAN
ID TAF7L_HUMAN Reviewed; 462 AA.
AC Q5H9L4; Q5H9L6; Q86XI4; Q9BXU5; Q9H5R0;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Transcription initiation factor TFIID subunit 7-like;
DE AltName: Full=Cancer/testis antigen 40;
DE Short=CT40;
DE AltName: Full=RNA polymerase II TBP-associated factor subunit Q;
DE AltName: Full=TATA box-binding protein-associated factor 50 kDa;
DE AltName: Full=Transcription initiation factor TFIID 50 kDa subunit;
GN Name=TAF7L; Synonyms=TAF2Q;
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] (ISOFORM 2), TISSUE SPECIFICITY, AND VARIANT
RP 350-ASP-GLU-351 DEL.
RC TISSUE=Testis;
RX PubMed=11279525; DOI=10.1038/86927;
RA Wang P.J., McCarrey J.R., Yang F., Page D.C.;
RT "An abundance of X-linked genes expressed in spermatogonia.";
RL Nat. Genet. 27:422-426(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Lung;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT PRO-34.
RC TISSUE=Eye;
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 [6]
RP VARIANTS LYS-61; GLY-308; 350-ASP-GLU-351 DEL AND HIS-458.
RX PubMed=16597641; DOI=10.1093/molehr/gal020;
RA Stouffs K., Willems A., Lissens W., Tournaye H., Van Steirteghem A.,
RA Liebaers I.;
RT "The role of the testis-specific gene hTAF7L in the aetiology of male
RT infertility.";
RL Mol. Hum. Reprod. 12:263-267(2006).
RN [7]
RP VARIANTS GLY-308; 350-ASP-GLU-351 DEL AND HIS-458.
RX PubMed=17714218; DOI=10.1111/j.1439-0272.2007.00789.x;
RA Akinloye O., Gromoll J., Callies C., Nieschlag E., Simoni M.;
RT "Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene
RT in spermatogenic failure.";
RL Andrologia 39:190-195(2007).
CC -!- FUNCTION: Probably functions as a spermatogenesis-specific component of
CC the DNA-binding general transcription factor complex TFIID, a
CC multimeric protein complex that plays a central role in mediating
CC promoter responses to various activators and repressors. May play a
CC role in spermatogenesis (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: TFIID is composed of TATA binding protein (TBP) and a number
CC of TBP-associated factors (TAFs). TAF7L may replace TAF7 in a
CC spermatogenesis-specific form of TFIID. Interacts with TBP; the
CC interaction occurs in a sub-population of cells (pachytene and haploid
CC round spermatids) and is developmentally regulated through differential
CC intracellular localization of the two proteins. Interacts with TAF1 (By
CC similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q5H9L4; P41227: NAA10; NbExp=3; IntAct=EBI-6658013, EBI-747693;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
CC Note=Cytoplasmic in spermatogonia and early spermatocytes
CC (preleptotene, leptotene, and zygotene); translocates into the nuclei
CC of pachytene spermatocytes and round spermatids. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5H9L4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5H9L4-2; Sequence=VSP_028847;
CC Name=3;
CC IsoId=Q5H9L4-3; Sequence=VSP_028847, VSP_028848;
CC -!- TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:11279525}.
CC -!- SIMILARITY: Belongs to the TAF7 family. {ECO:0000305}.
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DR EMBL; AF285595; AAK31974.1; -; mRNA.
DR EMBL; AK026810; BAB15560.1; -; mRNA.
DR EMBL; Z68331; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL109801; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471115; EAX02847.1; -; Genomic_DNA.
DR EMBL; CH471115; EAX02848.1; -; Genomic_DNA.
DR EMBL; BC043391; AAH43391.1; -; mRNA.
DR CCDS; CCDS35347.1; -. [Q5H9L4-1]
DR CCDS; CCDS55466.1; -. [Q5H9L4-2]
DR RefSeq; NP_001161946.1; NM_001168474.1. [Q5H9L4-2]
DR RefSeq; NP_079161.3; NM_024885.3. [Q5H9L4-1]
DR AlphaFoldDB; Q5H9L4; -.
DR SMR; Q5H9L4; -.
DR BioGRID; 119964; 24.
DR IntAct; Q5H9L4; 23.
DR MINT; Q5H9L4; -.
DR STRING; 9606.ENSP00000361998; -.
DR iPTMnet; Q5H9L4; -.
DR PhosphoSitePlus; Q5H9L4; -.
DR BioMuta; TAF7L; -.
DR DMDM; 74762183; -.
DR MassIVE; Q5H9L4; -.
DR MaxQB; Q5H9L4; -.
DR PaxDb; Q5H9L4; -.
DR PeptideAtlas; Q5H9L4; -.
DR PRIDE; Q5H9L4; -.
DR ProteomicsDB; 62896; -. [Q5H9L4-1]
DR ProteomicsDB; 62897; -. [Q5H9L4-2]
DR ProteomicsDB; 62898; -. [Q5H9L4-3]
DR Antibodypedia; 451; 123 antibodies from 28 providers.
DR DNASU; 54457; -.
DR Ensembl; ENST00000324762.10; ENSP00000320283.6; ENSG00000102387.16. [Q5H9L4-3]
DR Ensembl; ENST00000356784.2; ENSP00000349235.1; ENSG00000102387.16. [Q5H9L4-2]
DR Ensembl; ENST00000372907.7; ENSP00000361998.3; ENSG00000102387.16. [Q5H9L4-1]
DR GeneID; 54457; -.
DR KEGG; hsa:54457; -.
DR MANE-Select; ENST00000356784.2; ENSP00000349235.1; NM_001168474.2; NP_001161946.1. [Q5H9L4-2]
DR UCSC; uc004eha.4; human. [Q5H9L4-1]
DR CTD; 54457; -.
DR DisGeNET; 54457; -.
DR GeneCards; TAF7L; -.
DR HGNC; HGNC:11548; TAF7L.
DR HPA; ENSG00000102387; Tissue enriched (testis).
DR MIM; 300314; gene.
DR neXtProt; NX_Q5H9L4; -.
DR OpenTargets; ENSG00000102387; -.
DR PharmGKB; PA36323; -.
DR VEuPathDB; HostDB:ENSG00000102387; -.
DR eggNOG; KOG4011; Eukaryota.
DR GeneTree; ENSGT00940000161565; -.
DR HOGENOM; CLU_037860_0_1_1; -.
DR InParanoid; Q5H9L4; -.
DR OMA; KQIHYME; -.
DR OrthoDB; 1348389at2759; -.
DR PhylomeDB; Q5H9L4; -.
DR TreeFam; TF313044; -.
DR PathwayCommons; Q5H9L4; -.
DR Reactome; R-HSA-167161; HIV Transcription Initiation.
DR Reactome; R-HSA-167162; RNA Polymerase II HIV Promoter Escape.
DR Reactome; R-HSA-167172; Transcription of the HIV genome.
DR Reactome; R-HSA-674695; RNA Polymerase II Pre-transcription Events.
DR Reactome; R-HSA-6804756; Regulation of TP53 Activity through Phosphorylation.
DR Reactome; R-HSA-73776; RNA Polymerase II Promoter Escape.
DR Reactome; R-HSA-73779; RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
DR Reactome; R-HSA-75953; RNA Polymerase II Transcription Initiation.
DR Reactome; R-HSA-76042; RNA Polymerase II Transcription Initiation And Promoter Clearance.
DR SignaLink; Q5H9L4; -.
DR BioGRID-ORCS; 54457; 13 hits in 702 CRISPR screens.
DR ChiTaRS; TAF7L; human.
DR GenomeRNAi; 54457; -.
DR Pharos; Q5H9L4; Tbio.
DR PRO; PR:Q5H9L4; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5H9L4; protein.
DR Bgee; ENSG00000102387; Expressed in right testis and 103 other tissues.
DR ExpressionAtlas; Q5H9L4; baseline and differential.
DR Genevisible; Q5H9L4; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005669; C:transcription factor TFIID complex; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0051123; P:RNA polymerase II preinitiation complex assembly; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR CDD; cd08047; TAF7; 1.
DR InterPro; IPR037817; TAF7.
DR InterPro; IPR006751; TAFII55_prot_cons_reg.
DR PANTHER; PTHR12228; PTHR12228; 1.
DR Pfam; PF04658; TAFII55_N; 1.
DR SMART; SM01370; TAFII55_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Developmental protein;
KW Differentiation; Nucleus; Reference proteome; Spermatogenesis;
KW Transcription; Transcription regulation.
FT CHAIN 1..462
FT /note="Transcription initiation factor TFIID subunit 7-
FT like"
FT /id="PRO_0000307861"
FT REGION 1..97
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 327..366
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 342..462
FT /evidence="ECO:0000255"
FT COMPBIAS 9..49
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 58..77
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 330..365
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..86
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:11279525,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_028847"
FT VAR_SEQ 317..390
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028848"
FT VARIANT 34
FT /note="L -> P (in dbSNP:rs5951328)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036695"
FT VARIANT 61
FT /note="E -> K (in dbSNP:rs147493489)"
FT /evidence="ECO:0000269|PubMed:16597641"
FT /id="VAR_036696"
FT VARIANT 308
FT /note="S -> G (in dbSNP:rs35899692)"
FT /evidence="ECO:0000269|PubMed:16597641,
FT ECO:0000269|PubMed:17714218"
FT /id="VAR_036697"
FT VARIANT 350..351
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:11279525,
FT ECO:0000269|PubMed:16597641, ECO:0000269|PubMed:17714218"
FT /id="VAR_036698"
FT VARIANT 458
FT /note="R -> H (in dbSNP:rs41310729)"
FT /evidence="ECO:0000269|PubMed:16597641,
FT ECO:0000269|PubMed:17714218"
FT /id="VAR_036699"
SQ SEQUENCE 462 AA; 52588 MW; 92BB59377D35A62F CRC64;
MECPEGQLPI SSENDSTPTV STSEVTSQQE PQILVDRGSE TTYESSADIA GDEGTQIPAD
EDTQTDADSS AQAAAQAPEN FQEGKDMSES QDEVPDEVEN QFILRLPLEH ACTVRNLARS
QSVKMKDKLK IDLLPDGRHA VVEVEDVPLA AKLVDLPCVI ESLRTLDKKT FYKTADISQM
LVCTADGDIH LSPEEPAAST DPNIVRKKER GREEKCVWKH GITPPLKNVR KKRFRKTQKK
VPDVKEMEKS SFTEYIESPD VENEVKRLLR SDAEAVSTRW EVIAEDGTKE IESQGSIPGF
LISSGMSSHK QGHTSSEYDM LREMFSDSRS NNDDDEDEDD EDEDEDEDED EDEDKEEEEE
DCSEEYLERQ LQAEFIESGQ YRANEGTSSI VMEIQKQIEK KEKKLHKIQN KAQRQKDLIM
KVENLTLKNH FQSVLEQLEL QEKQKNEKLI SLQEQLQRFL KK
