TF2AY_HUMAN
ID TF2AY_HUMAN Reviewed; 478 AA.
AC Q9UNN4; B4DY14; Q53FD9; Q5D050;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=TFIIA-alpha and beta-like factor;
DE AltName: Full=General transcription factor II A, 1-like factor;
GN Name=GTF2A1L; Synonyms=ALF, GTF2A1LF;
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 1), FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=10364255; DOI=10.1074/jbc.274.25.18040;
RA Upadhyaya A.B., Lee S.H., DeJong J.;
RT "Identification of a general transcription factor TFIIAalpha/beta homolog
RT selectively expressed in testis.";
RL J. Biol. Chem. 274:18040-18048(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Testis;
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 [5]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=16525715;
RA Huang M., Wang H., Li J., Zhou Z., Du Y., Lin M., Sha J.;
RT "Involvement of ALF in human spermatogenesis and male infertility.";
RL Int. J. Mol. Med. 17:599-604(2006).
CC -!- FUNCTION: May function as a testis specific transcription factor. Binds
CC DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and
CC together with GTF2A2, allows mRNA transcription.
CC {ECO:0000269|PubMed:10364255}.
CC -!- INTERACTION:
CC Q9UNN4; Q13480: GAB1; NbExp=3; IntAct=EBI-10229384, EBI-517684;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16525715}.
CC Note=Mainly localizes in the annulus and partly in acrosomal cap area
CC of spermatozoa.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UNN4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UNN4-2; Sequence=VSP_040935;
CC -!- TISSUE SPECIFICITY: Testis specific. Detected in adult testis mostly in
CC round and elongating spermatids (at protein level). Detected in testis.
CC {ECO:0000269|PubMed:10364255, ECO:0000269|PubMed:16525715}.
CC -!- INDUCTION: Down-regulated in Sertoli cell-only syndrome (SCOS)
CC patients. {ECO:0000269|PubMed:16525715}.
CC -!- SIMILARITY: Belongs to the TFIIA subunit 1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The in vivo relevance of this transcript of the STON1 (AC Q9Y6Q2) and GTF2A1L genes creating a chimeric protein of 1182 residues is uncertain.; Evidence={ECO:0000305};
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DR EMBL; AF026169; AAD39617.1; ALT_SEQ; mRNA.
DR EMBL; AF106857; AAD39634.1; -; mRNA.
DR EMBL; AK223350; BAD97070.1; -; mRNA.
DR EMBL; AK302220; BAG63576.1; -; mRNA.
DR EMBL; BC025991; AAH25991.1; -; mRNA.
DR EMBL; BC064585; AAH64585.1; -; mRNA.
DR CCDS; CCDS46281.1; -. [Q9UNN4-1]
DR CCDS; CCDS54359.1; -. [Q9UNN4-2]
DR RefSeq; NP_001180416.1; NM_001193487.2. [Q9UNN4-2]
DR RefSeq; NP_006863.2; NM_006872.4. [Q9UNN4-1]
DR AlphaFoldDB; Q9UNN4; -.
DR SMR; Q9UNN4; -.
DR BioGRID; 116225; 20.
DR IntAct; Q9UNN4; 18.
DR STRING; 9606.ENSP00000384597; -.
DR iPTMnet; Q9UNN4; -.
DR PhosphoSitePlus; Q9UNN4; -.
DR BioMuta; GTF2A1L; -.
DR DMDM; 327478545; -.
DR MassIVE; Q9UNN4; -.
DR MaxQB; Q9UNN4; -.
DR PaxDb; Q9UNN4; -.
DR PeptideAtlas; Q9UNN4; -.
DR PRIDE; Q9UNN4; -.
DR ProteomicsDB; 85313; -. [Q9UNN4-1]
DR ProteomicsDB; 85314; -. [Q9UNN4-2]
DR Antibodypedia; 35034; 269 antibodies from 18 providers.
DR DNASU; 11036; -.
DR Ensembl; ENST00000403751.8; ENSP00000384597.3; ENSG00000242441.8. [Q9UNN4-1]
DR Ensembl; ENST00000430487.6; ENSP00000387896.2; ENSG00000242441.8. [Q9UNN4-2]
DR GeneID; 11036; -.
DR KEGG; hsa:11036; -.
DR MANE-Select; ENST00000403751.8; ENSP00000384597.3; NM_006872.5; NP_006863.2.
DR UCSC; uc002rws.4; human. [Q9UNN4-1]
DR CTD; 11036; -.
DR DisGeNET; 11036; -.
DR GeneCards; GTF2A1L; -.
DR HGNC; HGNC:30727; GTF2A1L.
DR HPA; ENSG00000242441; Tissue enriched (testis).
DR MIM; 605358; gene.
DR neXtProt; NX_Q9UNN4; -.
DR OpenTargets; ENSG00000242441; -.
DR PharmGKB; PA162390383; -.
DR VEuPathDB; HostDB:ENSG00000242441; -.
DR eggNOG; KOG2652; Eukaryota.
DR GeneTree; ENSGT00940000163055; -.
DR HOGENOM; CLU_030027_3_1_1; -.
DR InParanoid; Q9UNN4; -.
DR OMA; CFNPVPK; -.
DR OrthoDB; 1254383at2759; -.
DR PhylomeDB; Q9UNN4; -.
DR TreeFam; TF350445; -.
DR PathwayCommons; Q9UNN4; -.
DR SignaLink; Q9UNN4; -.
DR SIGNOR; Q9UNN4; -.
DR BioGRID-ORCS; 11036; 17 hits in 1063 CRISPR screens.
DR GeneWiki; GTF2A1L; -.
DR GenomeRNAi; 11036; -.
DR Pharos; Q9UNN4; Tbio.
DR PRO; PR:Q9UNN4; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9UNN4; protein.
DR Bgee; ENSG00000242441; Expressed in left testis and 98 other tissues.
DR ExpressionAtlas; Q9UNN4; baseline and differential.
DR Genevisible; Q9UNN4; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR GO; GO:0005672; C:transcription factor TFIIA complex; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0003713; F:transcription coactivator activity; TAS:ProtInc.
DR GO; GO:0050890; P:cognition; IMP:UniProtKB.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006367; P:transcription initiation from RNA polymerase II promoter; IEA:InterPro.
DR Gene3D; 2.30.18.10; -; 1.
DR InterPro; IPR004855; TFIIA_asu/bsu.
DR InterPro; IPR009088; TFIIA_b-brl.
DR PANTHER; PTHR12694; PTHR12694; 1.
DR Pfam; PF03153; TFIIA; 1.
DR SMART; SM01371; TFIIA; 1.
DR SUPFAM; SSF50784; SSF50784; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..478
FT /note="TFIIA-alpha and beta-like factor"
FT /id="PRO_0000072495"
FT REGION 309..427
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 313..336
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 8..41
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040935"
FT CONFLICT 97
FT /note="T -> A (in Ref. 2; BAD97070)"
FT /evidence="ECO:0000305"
FT CONFLICT 259
FT /note="N -> D (in Ref. 1; AAD39634 and 4; AAH64585)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 478 AA; 52444 MW; E63E9E4DD8DF9C59 CRC64;
MACLNPVPKL YRSVIEDVIE GVRNLFAEEG IEEQVLKDLK QLWETKVLQS KATEDFFRNS
IQSPLFTLQL PHSLHQTLQS STASLVIPAG RTLPSFTTAE LGTSNSSANF TFPGYPIHVP
AGVTLQTVSG HLYKVNVPIM VTETSGRAGI LQHPIQQVFQ QLGQPSVIQT SVPQLNPWSL
QATTEKSQRI ETVLQQPAIL PSGPVDRKHL ENATSDILVS PGNEHKIVPE ALLCHQESSH
YISLPGVVFS PQVSQTNSNV ESVLSGSASM AQNLHDESLS TSPHGALHQH VTDIQLHILK
NRMYGCDSVK QPRNIEEPSN IPVSEKDSNS QVDLSIRVTD DDIGEIIQVD GSGDTSSNEE
IGSTRDADEN EFLGNIDGGD LKVPEEEADS ISNEDSATNS SDNEDPQVNI VEEDPLNSGD
DVSEQDVPDL FDTDNVIVCQ YDKIHRSKNK WKFYLKDGVM CFGGRDYVFA KAIGDAEW
