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Q5H9L4

- TAF7L_HUMAN

UniProt

Q5H9L4 - TAF7L_HUMAN

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Protein
Transcription initiation factor TFIID subunit 7-like
Gene
TAF7L, TAF2Q
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. multicellular organismal development Source: UniProtKB-KW
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. spermatogenesis Source: UniProtKB-KW
  5. transcription initiation from RNA polymerase II promoter Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:TAF7L
Synonyms:TAF2Q
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:11548. TAF7L.

Subcellular locationi

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.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. transcription factor TFIID complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36323.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 462462Transcription initiation factor TFIID subunit 7-like
PRO_0000307861Add
BLAST

Proteomic databases

MaxQBiQ5H9L4.
PaxDbiQ5H9L4.
PRIDEiQ5H9L4.

PTM databases

PhosphoSiteiQ5H9L4.

Expressioni

Tissue specificityi

Testis-specific.1 Publication

Gene expression databases

BgeeiQ5H9L4.
CleanExiHS_TAF7L.
GenevestigatoriQ5H9L4.

Organism-specific databases

HPAiHPA001879.

Interactioni

Subunit structurei

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.

Protein-protein interaction databases

BioGridi119964. 5 interactions.
IntActiQ5H9L4. 1 interaction.
STRINGi9606.ENSP00000361998.

Structurei

3D structure databases

ProteinModelPortaliQ5H9L4.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili342 – 462121 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi336 – 37742Glu-rich
Add
BLAST

Sequence similaritiesi

Belongs to the TAF7 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5414.
HOGENOMiHOG000035121.
HOVERGENiHBG013606.
InParanoidiQ5H9L4.
KOiK03132.
OMAiSVKMKDK.
OrthoDBiEOG7GJ6FT.
PhylomeDBiQ5H9L4.
TreeFamiTF313044.

Family and domain databases

InterProiIPR006751. TAFII55_prot_cons_reg.
[Graphical view]
PfamiPF04658. TAFII55_N. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q5H9L4-1) [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

MECPEGQLPI SSENDSTPTV STSEVTSQQE PQILVDRGSE TTYESSADIA    50
GDEGTQIPAD EDTQTDADSS AQAAAQAPEN FQEGKDMSES QDEVPDEVEN 100
QFILRLPLEH ACTVRNLARS QSVKMKDKLK IDLLPDGRHA VVEVEDVPLA 150
AKLVDLPCVI ESLRTLDKKT FYKTADISQM LVCTADGDIH LSPEEPAAST 200
DPNIVRKKER GREEKCVWKH GITPPLKNVR KKRFRKTQKK VPDVKEMEKS 250
SFTEYIESPD VENEVKRLLR SDAEAVSTRW EVIAEDGTKE IESQGSIPGF 300
LISSGMSSHK QGHTSSEYDM LREMFSDSRS NNDDDEDEDD EDEDEDEDED 350
EDEDKEEEEE DCSEEYLERQ LQAEFIESGQ YRANEGTSSI VMEIQKQIEK 400
KEKKLHKIQN KAQRQKDLIM KVENLTLKNH FQSVLEQLEL QEKQKNEKLI 450
SLQEQLQRFL KK 462
Length:462
Mass (Da):52,588
Last modified:February 15, 2005 - v1
Checksum:i92BB59377D35A62F
GO
Isoform 2 (identifier: Q5H9L4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.

Note: No experimental confirmation available.

Show »
Length:376
Mass (Da):43,570
Checksum:i4D5BDFC2013DFE63
GO
Isoform 3 (identifier: Q5H9L4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
     317-390: Missing.

Note: No experimental confirmation available.

Show »
Length:302
Mass (Da):34,726
Checksum:i03FDA44019BFAB5A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341L → P.1 Publication
Corresponds to variant rs5951328 [ dbSNP | Ensembl ].
VAR_036695
Natural varianti61 – 611E → K.1 Publication
Corresponds to variant rs147493489 [ dbSNP | Ensembl ].
VAR_036696
Natural varianti308 – 3081S → G.2 Publications
Corresponds to variant rs35899692 [ dbSNP | Ensembl ].
VAR_036697
Natural varianti350 – 3512Missing.
VAR_036698
Natural varianti458 – 4581R → H.2 Publications
Corresponds to variant rs41310729 [ dbSNP | Ensembl ].
VAR_036699

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8686Missing in isoform 2 and isoform 3.
VSP_028847Add
BLAST
Alternative sequencei317 – 39074Missing in isoform 3.
VSP_028848Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS35347.1. [Q5H9L4-1]
CCDS55466.1. [Q5H9L4-2]
RefSeqiNP_001161946.1. NM_001168474.1. [Q5H9L4-2]
NP_079161.3. NM_024885.3. [Q5H9L4-1]
UniGeneiHs.223806.

Genome annotation databases

EnsembliENST00000324762; ENSP00000320283; ENSG00000102387. [Q5H9L4-3]
ENST00000356784; ENSP00000349235; ENSG00000102387. [Q5H9L4-2]
ENST00000372905; ENSP00000361996; ENSG00000102387. [Q5H9L4-3]
ENST00000372907; ENSP00000361998; ENSG00000102387. [Q5H9L4-1]
GeneIDi54457.
KEGGihsa:54457.
UCSCiuc004eha.3. human. [Q5H9L4-3]
uc004ehb.3. human. [Q5H9L4-1]

Polymorphism databases

DMDMi74762183.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS35347.1. [Q5H9L4-1 ]
CCDS55466.1. [Q5H9L4-2 ]
RefSeqi NP_001161946.1. NM_001168474.1. [Q5H9L4-2 ]
NP_079161.3. NM_024885.3. [Q5H9L4-1 ]
UniGenei Hs.223806.

3D structure databases

ProteinModelPortali Q5H9L4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119964. 5 interactions.
IntActi Q5H9L4. 1 interaction.
STRINGi 9606.ENSP00000361998.

PTM databases

PhosphoSitei Q5H9L4.

Polymorphism databases

DMDMi 74762183.

Proteomic databases

MaxQBi Q5H9L4.
PaxDbi Q5H9L4.
PRIDEi Q5H9L4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324762 ; ENSP00000320283 ; ENSG00000102387 . [Q5H9L4-3 ]
ENST00000356784 ; ENSP00000349235 ; ENSG00000102387 . [Q5H9L4-2 ]
ENST00000372905 ; ENSP00000361996 ; ENSG00000102387 . [Q5H9L4-3 ]
ENST00000372907 ; ENSP00000361998 ; ENSG00000102387 . [Q5H9L4-1 ]
GeneIDi 54457.
KEGGi hsa:54457.
UCSCi uc004eha.3. human. [Q5H9L4-3 ]
uc004ehb.3. human. [Q5H9L4-1 ]

Organism-specific databases

CTDi 54457.
GeneCardsi GC0XM100523.
HGNCi HGNC:11548. TAF7L.
HPAi HPA001879.
MIMi 300314. gene.
neXtProti NX_Q5H9L4.
PharmGKBi PA36323.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5414.
HOGENOMi HOG000035121.
HOVERGENi HBG013606.
InParanoidi Q5H9L4.
KOi K03132.
OMAi SVKMKDK.
OrthoDBi EOG7GJ6FT.
PhylomeDBi Q5H9L4.
TreeFami TF313044.

Miscellaneous databases

GenomeRNAii 54457.
NextBioi 56701.
PROi Q5H9L4.
SOURCEi Search...

Gene expression databases

Bgeei Q5H9L4.
CleanExi HS_TAF7L.
Genevestigatori Q5H9L4.

Family and domain databases

InterProi IPR006751. TAFII55_prot_cons_reg.
[Graphical view ]
Pfami PF04658. TAFII55_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiTAF7L_HUMAN
AccessioniPrimary (citable) accession number: Q5H9L4
Secondary accession number(s): Q5H9L6
, Q86XI4, Q9BXU5, Q9H5R0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: February 15, 2005
Last modified: July 9, 2014
This is version 82 of the entry and version 1 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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