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Q9UNN4 (TF2AY_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
TFIIA-alpha and beta-like factor
Alternative name(s):
General transcription factor II A, 1-like factor
Gene names
Name:GTF2A1L
Synonyms:ALF, GTF2A1LF
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subcellular location

Nucleus. Note: Mainly localizes in the annulus and partly in acrosomal cap area of spermatozoa. Ref.5

Tissue specificity

Testis specific. Detected in adult testis mostly in round and elongating spermatids (at protein level). Detected in testis. Ref.1 Ref.5

Induction

Down-regulated in Sertoli cell-only syndrome (SCOS) patients. Ref.5

Sequence similarities

Belongs to the TFIIA subunit 1 family.

Sequence caution

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 products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UNN4-1)

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.
Isoform 2 (identifier: Q9UNN4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     8-41: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 478478TFIIA-alpha and beta-like factor
PRO_0000072495

Natural variations

Alternative sequence8 – 4134Missing in isoform 2.
VSP_040935

Experimental info

Sequence conflict971T → A in BAD97070. Ref.2
Sequence conflict2591N → D in AAD39634. Ref.1
Sequence conflict2591N → D in AAH64585. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 5, 2011. Version 2.
Checksum: E63E9E4DD8DF9C59

FASTA47852,444
        10         20         30         40         50         60 
MACLNPVPKL YRSVIEDVIE GVRNLFAEEG IEEQVLKDLK QLWETKVLQS KATEDFFRNS 

        70         80         90        100        110        120 
IQSPLFTLQL PHSLHQTLQS STASLVIPAG RTLPSFTTAE LGTSNSSANF TFPGYPIHVP 

       130        140        150        160        170        180 
AGVTLQTVSG HLYKVNVPIM VTETSGRAGI LQHPIQQVFQ QLGQPSVIQT SVPQLNPWSL 

       190        200        210        220        230        240 
QATTEKSQRI ETVLQQPAIL PSGPVDRKHL ENATSDILVS PGNEHKIVPE ALLCHQESSH 

       250        260        270        280        290        300 
YISLPGVVFS PQVSQTNSNV ESVLSGSASM AQNLHDESLS TSPHGALHQH VTDIQLHILK 

       310        320        330        340        350        360 
NRMYGCDSVK QPRNIEEPSN IPVSEKDSNS QVDLSIRVTD DDIGEIIQVD GSGDTSSNEE 

       370        380        390        400        410        420 
IGSTRDADEN EFLGNIDGGD LKVPEEEADS ISNEDSATNS SDNEDPQVNI VEEDPLNSGD 

       430        440        450        460        470 
DVSEQDVPDL FDTDNVIVCQ YDKIHRSKNK WKFYLKDGVM CFGGRDYVFA KAIGDAEW 

« Hide

Isoform 2 [UniParc].

Checksum: 7C858FF7AFD5344E
Show »

FASTA44448,504

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001180416.1. NM_001193487.1.
NP_006863.2. NM_006872.3.
UniGeneHs.732016.

3D structure databases

ProteinModelPortalQ9UNN4.
SMRQ9UNN4. Positions 7-48, 432-478.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116225. 18 interactions.
STRING9606.ENSP00000384597.

PTM databases

PhosphoSiteQ9UNN4.

Polymorphism databases

DMDM327478545.

Proteomic databases

PaxDbQ9UNN4.
PRIDEQ9UNN4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000403751; ENSP00000384597; ENSG00000242441. [Q9UNN4-1]
ENST00000430487; ENSP00000387896; ENSG00000242441. [Q9UNN4-2]
GeneID11036.
KEGGhsa:11036.
UCSCuc002rws.2. human. [Q9UNN4-1]
uc010yom.2. human. [Q9UNN4-2]

Organism-specific databases

CTD11036.
GeneCardsGC02P048844.
HGNCHGNC:30727. GTF2A1L.
MIM605358. gene.
neXtProtNX_Q9UNN4.
PharmGKBPA162390383.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5149.
HOGENOMHOG000015236.
HOVERGENHBG052771.
KOK03122.
PhylomeDBQ9UNN4.
TreeFamTF350445.

Gene expression databases

BgeeQ9UNN4.
CleanExHS_GTF2A1L.
GenevestigatorQ9UNN4.

Family and domain databases

Gene3D1.10.287.100. 1 hit.
2.30.18.10. 1 hit.
InterProIPR009083. TFIIA_a-hlx.
IPR004855. TFIIA_asu/bsu.
IPR013028. TFIIA_asu_N.
IPR009088. TFIIA_b-brl.
[Graphical view]
PANTHERPTHR12694. PTHR12694. 1 hit.
PfamPF03153. TFIIA. 1 hit.
[Graphical view]
SUPFAMSSF47396. SSF47396. 1 hit.
SSF50784. SSF50784. 1 hit.
ProtoNetSearch...

Other

GeneWikiGTF2A1L.
GenomeRNAi11036.
NextBio41940.
PROQ9UNN4.
SOURCESearch...

Entry information

Entry nameTF2AY_HUMAN
AccessionPrimary (citable) accession number: Q9UNN4
Secondary accession number(s): B4DY14, Q53FD9, Q5D050
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: April 5, 2011
Last modified: April 16, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM