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Q9UNN4

- TF2AY_HUMAN

UniProt

Q9UNN4 - TF2AY_HUMAN

Protein

TFIIA-alpha and beta-like factor

Gene

GTF2A1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (05 Apr 2011)
      Previous versions | rss
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    Functioni

    May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription.1 Publication

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. transcription coactivator activity Source: ProtInc

    GO - Biological processi

    1. cognition Source: UniProt
    2. regulation of transcription, DNA-templated Source: UniProtKB-KW
    3. transcription from RNA polymerase II promoter Source: ProtInc
    4. transcription initiation from RNA polymerase II promoter Source: InterPro

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    TFIIA-alpha and beta-like factor
    Alternative name(s):
    General transcription factor II A, 1-like factor
    Gene namesi
    Name:GTF2A1L
    Synonyms:ALF, GTF2A1LF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:30727. GTF2A1L.

    Subcellular locationi

    Nucleus 1 Publication
    Note: Mainly localizes in the annulus and partly in acrosomal cap area of spermatozoa.

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. transcription factor TFIIA complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162390383.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 478478TFIIA-alpha and beta-like factorPRO_0000072495Add
    BLAST

    Proteomic databases

    PaxDbiQ9UNN4.
    PRIDEiQ9UNN4.

    PTM databases

    PhosphoSiteiQ9UNN4.

    Expressioni

    Tissue specificityi

    Testis specific. Detected in adult testis mostly in round and elongating spermatids (at protein level). Detected in testis.2 Publications

    Inductioni

    Down-regulated in Sertoli cell-only syndrome (SCOS) patients.1 Publication

    Gene expression databases

    BgeeiQ9UNN4.
    CleanExiHS_GTF2A1L.
    GenevestigatoriQ9UNN4.

    Interactioni

    Protein-protein interaction databases

    BioGridi116225. 18 interactions.
    STRINGi9606.ENSP00000384597.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UNN4.
    SMRiQ9UNN4. Positions 7-48, 432-478.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TFIIA subunit 1 family.Curated

    Phylogenomic databases

    eggNOGiCOG5149.
    HOGENOMiHOG000015236.
    HOVERGENiHBG052771.
    KOiK03122.
    PhylomeDBiQ9UNN4.
    TreeFamiTF350445.

    Family and domain databases

    Gene3Di1.10.287.100. 1 hit.
    2.30.18.10. 1 hit.
    InterProiIPR009083. TFIIA_a-hlx.
    IPR004855. TFIIA_asu/bsu.
    IPR013028. TFIIA_asu_N.
    IPR009088. TFIIA_b-brl.
    [Graphical view]
    PANTHERiPTHR12694. PTHR12694. 1 hit.
    PfamiPF03153. TFIIA. 1 hit.
    [Graphical view]
    SUPFAMiSSF47396. SSF47396. 1 hit.
    SSF50784. SSF50784. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UNN4-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MACLNPVPKL YRSVIEDVIE GVRNLFAEEG IEEQVLKDLK QLWETKVLQS    50
    KATEDFFRNS IQSPLFTLQL PHSLHQTLQS STASLVIPAG RTLPSFTTAE 100
    LGTSNSSANF TFPGYPIHVP AGVTLQTVSG HLYKVNVPIM VTETSGRAGI 150
    LQHPIQQVFQ QLGQPSVIQT SVPQLNPWSL QATTEKSQRI ETVLQQPAIL 200
    PSGPVDRKHL ENATSDILVS PGNEHKIVPE ALLCHQESSH YISLPGVVFS 250
    PQVSQTNSNV ESVLSGSASM AQNLHDESLS TSPHGALHQH VTDIQLHILK 300
    NRMYGCDSVK QPRNIEEPSN IPVSEKDSNS QVDLSIRVTD DDIGEIIQVD 350
    GSGDTSSNEE IGSTRDADEN EFLGNIDGGD LKVPEEEADS ISNEDSATNS 400
    SDNEDPQVNI VEEDPLNSGD DVSEQDVPDL FDTDNVIVCQ YDKIHRSKNK 450
    WKFYLKDGVM CFGGRDYVFA KAIGDAEW 478
    Length:478
    Mass (Da):52,444
    Last modified:April 5, 2011 - v2
    Checksum:iE63E9E4DD8DF9C59
    GO
    Isoform 2 (identifier: Q9UNN4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         8-41: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:444
    Mass (Da):48,504
    Checksum:i7C858FF7AFD5344E
    GO

    Sequence cautioni

    The sequence AAD39617.1 differs from that shown. Reason: 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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti97 – 971T → A in BAD97070. 1 PublicationCurated
    Sequence conflicti259 – 2591N → D in AAD39634. (PubMed:10364255)Curated
    Sequence conflicti259 – 2591N → D in AAH64585. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei8 – 4134Missing in isoform 2. 1 PublicationVSP_040935Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF026169 mRNA. Translation: AAD39617.1. Sequence problems.
    AF106857 mRNA. Translation: AAD39634.1.
    AK223350 mRNA. Translation: BAD97070.1.
    AK302220 mRNA. Translation: BAG63576.1.
    BC025991 mRNA. Translation: AAH25991.1.
    BC064585 mRNA. Translation: AAH64585.1.
    CCDSiCCDS46281.1. [Q9UNN4-1]
    CCDS54359.1. [Q9UNN4-2]
    RefSeqiNP_001180416.1. NM_001193487.2. [Q9UNN4-2]
    NP_006863.2. NM_006872.4. [Q9UNN4-1]
    UniGeneiHs.732016.

    Genome annotation databases

    EnsembliENST00000403751; ENSP00000384597; ENSG00000242441. [Q9UNN4-1]
    ENST00000430487; ENSP00000387896; ENSG00000242441. [Q9UNN4-2]
    GeneIDi11036.
    KEGGihsa:11036.
    UCSCiuc002rws.2. human. [Q9UNN4-1]
    uc010yom.2. human. [Q9UNN4-2]

    Polymorphism databases

    DMDMi327478545.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF026169 mRNA. Translation: AAD39617.1 . Sequence problems.
    AF106857 mRNA. Translation: AAD39634.1 .
    AK223350 mRNA. Translation: BAD97070.1 .
    AK302220 mRNA. Translation: BAG63576.1 .
    BC025991 mRNA. Translation: AAH25991.1 .
    BC064585 mRNA. Translation: AAH64585.1 .
    CCDSi CCDS46281.1. [Q9UNN4-1 ]
    CCDS54359.1. [Q9UNN4-2 ]
    RefSeqi NP_001180416.1. NM_001193487.2. [Q9UNN4-2 ]
    NP_006863.2. NM_006872.4. [Q9UNN4-1 ]
    UniGenei Hs.732016.

    3D structure databases

    ProteinModelPortali Q9UNN4.
    SMRi Q9UNN4. Positions 7-48, 432-478.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116225. 18 interactions.
    STRINGi 9606.ENSP00000384597.

    PTM databases

    PhosphoSitei Q9UNN4.

    Polymorphism databases

    DMDMi 327478545.

    Proteomic databases

    PaxDbi Q9UNN4.
    PRIDEi Q9UNN4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000403751 ; ENSP00000384597 ; ENSG00000242441 . [Q9UNN4-1 ]
    ENST00000430487 ; ENSP00000387896 ; ENSG00000242441 . [Q9UNN4-2 ]
    GeneIDi 11036.
    KEGGi hsa:11036.
    UCSCi uc002rws.2. human. [Q9UNN4-1 ]
    uc010yom.2. human. [Q9UNN4-2 ]

    Organism-specific databases

    CTDi 11036.
    GeneCardsi GC02P048844.
    HGNCi HGNC:30727. GTF2A1L.
    MIMi 605358. gene.
    neXtProti NX_Q9UNN4.
    PharmGKBi PA162390383.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5149.
    HOGENOMi HOG000015236.
    HOVERGENi HBG052771.
    KOi K03122.
    PhylomeDBi Q9UNN4.
    TreeFami TF350445.

    Miscellaneous databases

    GeneWikii GTF2A1L.
    GenomeRNAii 11036.
    NextBioi 41940.
    PROi Q9UNN4.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UNN4.
    CleanExi HS_GTF2A1L.
    Genevestigatori Q9UNN4.

    Family and domain databases

    Gene3Di 1.10.287.100. 1 hit.
    2.30.18.10. 1 hit.
    InterProi IPR009083. TFIIA_a-hlx.
    IPR004855. TFIIA_asu/bsu.
    IPR013028. TFIIA_asu_N.
    IPR009088. TFIIA_b-brl.
    [Graphical view ]
    PANTHERi PTHR12694. PTHR12694. 1 hit.
    Pfami PF03153. TFIIA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47396. SSF47396. 1 hit.
    SSF50784. SSF50784. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis."
      Upadhyaya A.B., Lee S.H., DeJong J.
      J. Biol. Chem. 274:18040-18048(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Testis.
    2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain and Testis.
    5. "Involvement of ALF in human spermatogenesis and male infertility."
      Huang M., Wang H., Li J., Zhou Z., Du Y., Lin M., Sha J.
      Int. J. Mol. Med. 17:599-604(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.

    Entry informationi

    Entry nameiTF2AY_HUMAN
    AccessioniPrimary (citable) accession number: Q9UNN4
    Secondary accession number(s): B4DY14, Q53FD9, Q5D050
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: April 5, 2011
    Last modified: October 1, 2014
    This is version 115 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3