Q5H9L4 (TAF7L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	TAF7L
Synonyms:	TAF2Q

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	462 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW transcription initiation from RNA polymerase II promoter Inferred from electronic annotation. Source: InterPro
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell transcription factor TFIID complex Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 462	462	Transcription initiation factor TFIID subunit 7-like		PRO_0000307861
Regions
	Coiled coil	342 – 462	121	Potential
	Compositional bias	336 – 377	42	Glu-rich
Natural variations
	Alternative sequence	1 – 86	86	Missing in isoform 2 and isoform 3.		VSP_028847
	Alternative sequence	317 – 390	74	Missing in isoform 3.		VSP_028848
	Natural variant	34	1	L → P. Ref.5 Corresponds to variant rs5951328 [ dbSNP | Ensembl ].		VAR_036695
	Natural variant	61	1	E → K. Ref.6		VAR_036696
	Natural variant	308	1	S → G. Ref.6 Ref.7 Corresponds to variant rs35899692 [ dbSNP | Ensembl ].		VAR_036697
	Natural variant	350 – 351	2	Missing.		VAR_036698
	Natural variant	458	1	R → H. Ref.6 Ref.7 Corresponds to variant rs41310729 [ dbSNP | Ensembl ].		VAR_036699

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 15, 2005. Version 1. Checksum: 92BB59377D35A62F	FASTA	462	52,588
	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
	Isoform 2 [UniParc]. Checksum: 4D5BDFC2013DFE63	FASTA	376	43,570
	10 20 30 40 50 60 MSESQDEVPD EVENQFILRL PLEHACTVRN LARSQSVKMK DKLKIDLLPD GRHAVVEVED 70 80 90 100 110 120 VPLAAKLVDL PCVIESLRTL DKKTFYKTAD ISQMLVCTAD GDIHLSPEEP AASTDPNIVR 130 140 150 160 170 180 KKERGREEKC VWKHGITPPL KNVRKKRFRK TQKKVPDVKE MEKSSFTEYI ESPDVENEVK 190 200 210 220 230 240 RLLRSDAEAV STRWEVIAED GTKEIESQGS IPGFLISSGM SSHKQGHTSS EYDMLREMFS 250 260 270 280 290 300 DSRSNNDDDE DEDDEDEDED EDEDEDEDKE EEEEDCSEEY LERQLQAEFI ESGQYRANEG 310 320 330 340 350 360 TSSIVMEIQK QIEKKEKKLH KIQNKAQRQK DLIMKVENLT LKNHFQSVLE QLELQEKQKN 370 EKLISLQEQL QRFLKK
	Isoform 3 [UniParc]. Checksum: 03FDA44019BFAB5A	FASTA	302	34,726
	10 20 30 40 50 60 MSESQDEVPD EVENQFILRL PLEHACTVRN LARSQSVKMK DKLKIDLLPD GRHAVVEVED 70 80 90 100 110 120 VPLAAKLVDL PCVIESLRTL DKKTFYKTAD ISQMLVCTAD GDIHLSPEEP AASTDPNIVR 130 140 150 160 170 180 KKERGREEKC VWKHGITPPL KNVRKKRFRK TQKKVPDVKE MEKSSFTEYI ESPDVENEVK 190 200 210 220 230 240 RLLRSDAEAV STRWEVIAED GTKEIESQGS IPGFLISSGM SSHKQGHTSS VMEIQKQIEK 250 260 270 280 290 300 KEKKLHKIQN KAQRQKDLIM KVENLTLKNH FQSVLEQLEL QEKQKNEKLI SLQEQLQRFL KK

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.

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.
IPI	IPI00016459. IPI00329227. IPI00478059.
RefSeq	NP_001161946.1. NM_001168474.1. NP_079161.3. NM_024885.3.
UniGene	Hs.223806.
3D structure databases
ProteinModelPortal	Q5H9L4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000361998.
PTM databases
PhosphoSite	Q5H9L4.
Polymorphism databases
DMDM	74762183.
Proteomic databases
PaxDb	Q5H9L4.
PRIDE	Q5H9L4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324762; ENSP00000320283; ENSG00000102387. ENST00000356784; ENSP00000349235; ENSG00000102387. ENST00000372905; ENSP00000361996; ENSG00000102387. ENST00000372907; ENSP00000361998; ENSG00000102387.
GeneID	54457.
KEGG	hsa:54457.
UCSC	uc004eha.3. human. uc004ehb.3. human.
Organism-specific databases
CTD	54457.
GeneCards	GC0XM100523.
HGNC	HGNC:11548. TAF7L.
HPA	HPA001879.
MIM	300314. gene.
neXtProt	NX_Q5H9L4.
PharmGKB	PA36323.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5414.
HOGENOM	HOG000035121.
HOVERGEN	HBG013606.
InParanoid	Q5H9L4.
KO	K03132.
OMA	NLTLKNH.
OrthoDB	EOG4V4389.
PhylomeDB	Q5H9L4.
Gene expression databases
Bgee	Q5H9L4.
CleanEx	HS_TAF7L.
Genevestigator	Q5H9L4.
Family and domain databases
InterPro	IPR006751. TAFII55_prot_cons_reg. [Graphical view]
Pfam	PF04658. TAFII55_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54457.
NextBio	56701.
SOURCE	Search...

Entry information

Entry name

TAF7L_HUMAN

Accession

Primary (citable) accession number: Q5H9L4
Secondary accession number(s): Q5H9L6 , Q86XI4, Q9BXU5, Q9H5R0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	February 15, 2005
Last modified:	April 3, 2013
This is version 73 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.