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Q5H9L4 (TAF7L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Transcription initiation factor TFIID subunit 7-like
Alternative name(s):
Cancer/testis antigen 40
Short name=CT40
RNA polymerase II TBP-associated factor subunit Q
TATA box-binding protein-associated factor 50 kDa
Transcription initiation factor TFIID 50 kDa subunit
Gene names
Name:TAF7L
Synonyms:TAF2Q
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length462 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probably functions as a spermatogensis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis By similarity.

Subunit structure

TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). TAF7L may replace TAF7 in a spermatogenesis-specific form of TFIID. Interacts with TBP; the interaction occurs in a sub-population of cells (pachytene and haploid round spermatids) and is developmentally regulated through differential intracellular localization of the two proteins. Interacts with TAF1 By similarity.

Subcellular location

Nucleus By similarity. Cytoplasm By similarity. Note: Cytoplasmic in spermatogonia and early spermatocytes (preleptotene, leptotene, and zygotene); translocates into the nuclei of pachytene spermatocytes and round spermatids By similarity.

Tissue specificity

Testis-specific. Ref.1

Sequence similarities

Belongs to the TAF7 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5H9L4-1)

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: Q5H9L4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5H9L4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
     317-390: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 462462Transcription initiation factor TFIID subunit 7-like
PRO_0000307861

Regions

Coiled coil342 – 462121 Potential
Compositional bias336 – 37742Glu-rich

Natural variations

Alternative sequence1 – 8686Missing in isoform 2 and isoform 3.
VSP_028847
Alternative sequence317 – 39074Missing in isoform 3.
VSP_028848
Natural variant341L → P. Ref.5
Corresponds to variant rs5951328 [ dbSNP | Ensembl ].
VAR_036695
Natural variant611E → K. Ref.6
Corresponds to variant rs147493489 [ dbSNP | Ensembl ].
VAR_036696
Natural variant3081S → G. Ref.6 Ref.7
Corresponds to variant rs35899692 [ dbSNP | Ensembl ].
VAR_036697
Natural variant350 – 3512Missing.
VAR_036698
Natural variant4581R → H. Ref.6 Ref.7
Corresponds to variant rs41310729 [ dbSNP | Ensembl ].
VAR_036699

Sequences

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

Last modified February 15, 2005. Version 1.
Checksum: 92BB59377D35A62F

FASTA46252,588
        10         20         30         40         50         60 
MECPEGQLPI SSENDSTPTV STSEVTSQQE PQILVDRGSE TTYESSADIA GDEGTQIPAD 

        70         80         90        100        110        120 
EDTQTDADSS AQAAAQAPEN FQEGKDMSES QDEVPDEVEN QFILRLPLEH ACTVRNLARS 

       130        140        150        160        170        180 
QSVKMKDKLK IDLLPDGRHA VVEVEDVPLA AKLVDLPCVI ESLRTLDKKT FYKTADISQM 

       190        200        210        220        230        240 
LVCTADGDIH LSPEEPAAST DPNIVRKKER GREEKCVWKH GITPPLKNVR KKRFRKTQKK 

       250        260        270        280        290        300 
VPDVKEMEKS SFTEYIESPD VENEVKRLLR SDAEAVSTRW EVIAEDGTKE IESQGSIPGF 

       310        320        330        340        350        360 
LISSGMSSHK QGHTSSEYDM LREMFSDSRS NNDDDEDEDD EDEDEDEDED EDEDKEEEEE 

       370        380        390        400        410        420 
DCSEEYLERQ LQAEFIESGQ YRANEGTSSI VMEIQKQIEK KEKKLHKIQN KAQRQKDLIM 

       430        440        450        460 
KVENLTLKNH FQSVLEQLEL QEKQKNEKLI SLQEQLQRFL KK 

« Hide

Isoform 2 [UniParc].

Checksum: 4D5BDFC2013DFE63
Show »

FASTA37643,570
Isoform 3 [UniParc].

Checksum: 03FDA44019BFAB5A
Show »

FASTA30234,726

References

« Hide 'large scale' references
[1]"An abundance of X-linked genes expressed in spermatogonia."
Wang P.J., McCarrey J.R., Yang F., Page D.C.
Nat. Genet. 27:422-426(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT 350-ASP-GLU-351 DEL.
Tissue: Testis.
[2]"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 3).
Tissue: Lung.
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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), VARIANT PRO-34.
Tissue: Eye.
[6]"The role of the testis-specific gene hTAF7L in the aetiology of male infertility."
Stouffs K., Willems A., Lissens W., Tournaye H., Van Steirteghem A., Liebaers I.
Mol. Hum. Reprod. 12:263-267(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LYS-61; GLY-308; 350-ASP-GLU-351 DEL AND HIS-458.
[7]"Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure."
Akinloye O., Gromoll J., Callies C., Nieschlag E., Simoni M.
Andrologia 39:190-195(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLY-308; 350-ASP-GLU-351 DEL AND HIS-458.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF285595 mRNA. Translation: AAK31974.1.
AK026810 mRNA. Translation: BAB15560.1.
Z68331, AL109801 Genomic DNA. Translation: CAI42014.1.
Z68331, AL109801 Genomic DNA. Translation: CAI42015.1.
Z68331, AL109801 Genomic DNA. Translation: CAI42017.1.
AL109801, Z68331 Genomic DNA. Translation: CAI43034.1.
AL109801, Z68331 Genomic DNA. Translation: CAI43035.1.
AL109801, Z68331 Genomic DNA. Translation: CAI43036.1.
CH471115 Genomic DNA. Translation: EAX02847.1.
CH471115 Genomic DNA. Translation: EAX02848.1.
BC043391 mRNA. Translation: AAH43391.1.
RefSeqNP_001161946.1. NM_001168474.1.
NP_079161.3. NM_024885.3.
UniGeneHs.223806.

3D structure databases

ProteinModelPortalQ5H9L4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119964. 5 interactions.
IntActQ5H9L4. 1 interaction.
STRING9606.ENSP00000361998.

PTM databases

PhosphoSiteQ5H9L4.

Polymorphism databases

DMDM74762183.

Proteomic databases

PaxDbQ5H9L4.
PRIDEQ5H9L4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324762; ENSP00000320283; ENSG00000102387. [Q5H9L4-3]
ENST00000356784; ENSP00000349235; ENSG00000102387. [Q5H9L4-2]
ENST00000372905; ENSP00000361996; ENSG00000102387. [Q5H9L4-3]
ENST00000372907; ENSP00000361998; ENSG00000102387. [Q5H9L4-1]
GeneID54457.
KEGGhsa:54457.
UCSCuc004eha.3. human. [Q5H9L4-3]
uc004ehb.3. human. [Q5H9L4-1]

Organism-specific databases

CTD54457.
GeneCardsGC0XM100523.
HGNCHGNC:11548. TAF7L.
HPAHPA001879.
MIM300314. gene.
neXtProtNX_Q5H9L4.
PharmGKBPA36323.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5414.
HOGENOMHOG000035121.
HOVERGENHBG013606.
InParanoidQ5H9L4.
KOK03132.
OMASVKMKDK.
OrthoDBEOG7GJ6FT.
PhylomeDBQ5H9L4.
TreeFamTF313044.

Gene expression databases

BgeeQ5H9L4.
CleanExHS_TAF7L.
GenevestigatorQ5H9L4.

Family and domain databases

InterProIPR006751. TAFII55_prot_cons_reg.
[Graphical view]
PfamPF04658. TAFII55_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54457.
NextBio56701.
PROQ5H9L4.
SOURCESearch...

Entry information

Entry nameTAF7L_HUMAN
AccessionPrimary (citable) accession number: Q5H9L4
Secondary accession number(s): Q5H9L6 expand/collapse secondary AC list , Q86XI4, Q9BXU5, Q9H5R0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: February 15, 2005
Last modified: March 19, 2014
This is version 80 of the entry and version 1 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

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