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Protein

TFIIA-alpha and beta-like factor

Gene

GTF2A1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • DNA binding Source: UniProtKB-KW
  • transcription coactivator activity Source: ProtInc

GO - Biological processi

  • cognition Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • transcription from RNA polymerase II promoter Source: ProtInc
  • 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 Componenti: 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

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390383.

Polymorphism and mutation databases

BioMutaiGTF2A1L.
DMDMi327478545.

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.
ExpressionAtlasiQ9UNN4. baseline.
GenevisibleiQ9UNN4. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GAB1Q134803EBI-10229384,EBI-517684

Protein-protein interaction databases

BioGridi116225. 19 interactions.
IntActiQ9UNN4. 1 interaction.
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.
GeneTreeiENSGT00530000063152.
HOGENOMiHOG000015236.
HOVERGENiHBG052771.
InParanoidiQ9UNN4.
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. AlignAdd to basket

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

        10         20         30         40         50
MACLNPVPKL YRSVIEDVIE GVRNLFAEEG IEEQVLKDLK QLWETKVLQS
60 70 80 90 100
KATEDFFRNS IQSPLFTLQL PHSLHQTLQS STASLVIPAG RTLPSFTTAE
110 120 130 140 150
LGTSNSSANF TFPGYPIHVP AGVTLQTVSG HLYKVNVPIM VTETSGRAGI
160 170 180 190 200
LQHPIQQVFQ QLGQPSVIQT SVPQLNPWSL QATTEKSQRI ETVLQQPAIL
210 220 230 240 250
PSGPVDRKHL ENATSDILVS PGNEHKIVPE ALLCHQESSH YISLPGVVFS
260 270 280 290 300
PQVSQTNSNV ESVLSGSASM AQNLHDESLS TSPHGALHQH VTDIQLHILK
310 320 330 340 350
NRMYGCDSVK QPRNIEEPSN IPVSEKDSNS QVDLSIRVTD DDIGEIIQVD
360 370 380 390 400
GSGDTSSNEE IGSTRDADEN EFLGNIDGGD LKVPEEEADS ISNEDSATNS
410 420 430 440 450
SDNEDPQVNI VEEDPLNSGD DVSEQDVPDL FDTDNVIVCQ YDKIHRSKNK
460 470
WKFYLKDGVM CFGGRDYVFA KAIGDAEW
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.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.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti97 – 971T → A in BAD97070 (Ref. 2) Curated
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:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi116225. 19 interactions.
IntActiQ9UNN4. 1 interaction.
STRINGi9606.ENSP00000384597.

PTM databases

PhosphoSiteiQ9UNN4.

Polymorphism and mutation databases

BioMutaiGTF2A1L.
DMDMi327478545.

Proteomic databases

PaxDbiQ9UNN4.
PRIDEiQ9UNN4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi11036.
GeneCardsiGC02P048844.
HGNCiHGNC:30727. GTF2A1L.
MIMi605358. gene.
neXtProtiNX_Q9UNN4.
PharmGKBiPA162390383.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5149.
GeneTreeiENSGT00530000063152.
HOGENOMiHOG000015236.
HOVERGENiHBG052771.
InParanoidiQ9UNN4.
KOiK03122.
PhylomeDBiQ9UNN4.
TreeFamiTF350445.

Miscellaneous databases

GeneWikiiGTF2A1L.
GenomeRNAii11036.
NextBioi41940.
PROiQ9UNN4.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UNN4.
CleanExiHS_GTF2A1L.
ExpressionAtlasiQ9UNN4. baseline.
GenevisibleiQ9UNN4. HS.

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.
ProtoNetiSearch...

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: June 24, 2015
This is version 121 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.