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Q9UNN4

- TF2AY_HUMAN

UniProt

Q9UNN4 - TF2AY_HUMAN

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Protein

TFIIA-alpha and beta-like factor

Gene
GTF2A1L, ALF, GTF2A1LF
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. transcription factor TFIIA complex Source: Ensembl
Complete GO annotation...

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the TFIIA subunit 1 family.

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 biological existence and relevance of this product of both STON1 (AC Q9Y6Q2) and GTF2A1L genes, creating a chimeric protein of 1182 residues is uncertain.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei8 – 4134Missing in isoform 2. VSP_040935Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti97 – 971T → A in BAD97070. 1 Publication
Sequence conflicti259 – 2591N → D in AAD39634. 1 Publication
Sequence conflicti259 – 2591N → D in AAH64585. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 114 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

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