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Q8NHU6 (TDRD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tudor domain-containing protein 7
Alternative name(s):
PCTAIRE2-binding protein
Tudor repeat associator with PCTAIRE-2
Short name=Trap
Gene names
Name:TDRD7
Synonyms:PCTAIRE2BP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1098 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis. Ref.11

Subunit structure

Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Found in a complex containing CABLES1, CDK16 and CDK17. Interacts with CABLES1, CDK17 and PIWIL1 By similarity.

Subcellular location

Cytoplasm. Note: Localizes to cytoplasmic RNA granules. Present in chromatoid body (CB) of spermatids (mammalian counterpart of germplasm, pole plasm or polar granules in Drosophila germ cells), also named processing bodies (P-bodies) in somatic cells. Detected in the multilobular cytoplasmic CBs (also called intermitochondrial cementin) in pachytene spermatocytes and as a single perinuclear CB in haploid round spermatids By similarity. Ref.11

Involvement in disease

Cataract 36 (CTRCT36) [MIM:613887]: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the TDRD7 family.

Contains 3 HTH OST-type domains.

Contains 2 Tudor domains.

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NHU6-1)

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: Q8NHU6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-74: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8NHU6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-651: Missing.
     694-722: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10981098Tudor domain-containing protein 7
PRO_0000183169

Regions

Domain3 – 7674HTH OST-type 1
Domain233 – 30270HTH OST-type 2
Domain337 – 40670HTH OST-type 3
Domain513 – 57058Tudor 1
Domain703 – 76058Tudor 2
Region861 – 1098238Interacts with CDK17 By similarity
Region893 – 1098206Interacts with CABLES1 By similarity

Natural variations

Alternative sequence1 – 651651Missing in isoform 3.
VSP_041314
Alternative sequence1 – 7474Missing in isoform 2.
VSP_041315
Alternative sequence694 – 72229Missing in isoform 3.
VSP_041316
Natural variant1501V → A. Ref.1 Ref.3
Corresponds to variant rs2045732 [ dbSNP | Ensembl ].
VAR_019070
Natural variant4561P → L. Ref.4
Corresponds to variant rs17852595 [ dbSNP | Ensembl ].
VAR_033044
Natural variant6181Missing in CTRCT36. Ref.11
VAR_065247

Experimental info

Sequence conflict6591T → A in BAG63369. Ref.1

Secondary structure

.............. 1098
Helix Strand Turn

Details...

Sequences

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

Last modified July 10, 2007. Version 2.
Checksum: F27E383E5B18C428

FASTA1,098123,586
        10         20         30         40         50         60 
MLEGDLVSKM LRAVLQSHKN GVALPRLQGE YRSLTGDWIP FKQLGFPTLE AYLRSVPAVV 

        70         80         90        100        110        120 
RIETSRSGEI TCYAMACTET ARIAQLVARQ RSSKRKTGRQ VNCQMRVKKT MPFFLEGKPK 

       130        140        150        160        170        180 
ATLRQPGFAS NFSVGKKPNP APLRDKGNSV GVKPDAEMSP YMLHTTLGNE AFKDIPVQRH 

       190        200        210        220        230        240 
VTMSTNNRFS PKASLQPPLQ MHLSRTSTKE MSDNLNQTVE KPNVKPPASY TYKMDEVQNR 

       250        260        270        280        290        300 
IKEILNKHNN GIWISKLPHF YKELYKEDLN QGILQQFEHW PHICTVEKPC SGGQDLLLYP 

       310        320        330        340        350        360 
AKRKQLLRSE LDTEKVPLSP LPGPKQTPPL KGCPTVMAGD FKEKVADLLV KYTSGLWASA 

       370        380        390        400        410        420 
LPKAFEEMYK VKFPEDALKN LASLSDVCSI DYISGNPQKA ILYAKLPLPT DKIQKDAGQA 

       430        440        450        460        470        480 
HGDNDIKAMV EQEYLQVEES IAESANTFME DITVPPLMIP TEASPSVLVV ELSNTNEVVI 

       490        500        510        520        530        540 
RYVGKDYSAA QELMEDEMKE YYSKNPKITP VQAVNVGQLL AVNAEEDAWL RAQVISTEEN 

       550        560        570        580        590        600 
KIKVCYVDYG FSENVEKSKA YKLNPKFCSL SFQATKCKLA GLEVLSDDPD LVKVVESLTC 

       610        620        630        640        650        660 
GKIFAVEILD KADIPLVVLY DTSGEDDINI NATCLKAICD KSLEVHLQVD AMYTNVKVTN 

       670        680        690        700        710        720 
ICSDGTLYCQ VPCKGLNKLS DLLRKIEDYF HCKHMTSECF VSLPFCGKIC LFHCKGKWLR 

       730        740        750        760        770        780 
VEITNVHSSR ALDVQFLDSG TVTSVKVSEL REIPPRFLQE MIAIPPQAIK CCLADLPQSI 

       790        800        810        820        830        840 
GMWTPDAVLW LRDSVLNCSD CSIKVTKVDE TRGIAHVYLF TPKNFPDPHR SINRQITNAD 

       850        860        870        880        890        900 
LWKHQKDVFL SAISSGADSP NSKNGNMPMS GNTGENFRKN LTDVIKKSMV DHTSAFSTEE 

       910        920        930        940        950        960 
LPPPVHLSKP GEHMDVYVPV ACHPGYFVIQ PWQEIHKLEV LMEEMILYYS VSEERHIAVE 

       970        980        990       1000       1010       1020 
KDQVYAAKVE NKWHRVLLKG ILTNGLVSVY ELDYGKHELV NIRKVQPLVD MFRKLPFQAV 

      1030       1040       1050       1060       1070       1080 
TAQLAGVKCN QWSEEASMVF RNHVEKKPLV ALVQTVIENA NPWDRKVVVY LVDTSLPDTD 

      1090 
TWIHDFMSEY LIELSKVN 

« Hide

Isoform 2 [UniParc].

Checksum: 37280FAC875C7EE5
Show »

FASTA1,024115,338
Isoform 3 [UniParc].

Checksum: ADDFA5052CF8D146
Show »

FASTA41847,539

References

« Hide 'large scale' references
[1]"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] (ISOFORMS 1; 2 AND 3), VARIANT ALA-150.
Tissue: Amygdala and Testis.
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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], VARIANT ALA-150.
[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), VARIANT LEU-456.
Tissue: Testis.
[5]"Identification of tudor repeat associator with PCTAIRE 2 (Trap). A novel protein that interacts with the N-terminal domain of PCTAIRE 2 in rat brain."
Hirose T., Kawabuchi M., Tamaru T., Okumura N., Nagai K., Okada M.
Eur. J. Biochem. 267:2113-2121(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 631-1098.
Tissue: Brain.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 837-1098.
Tissue: Testis.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"LOTUS, a new domain associated with small RNA pathways in the germline."
Callebaut I., Mornon J.P.
Bioinformatics 26:1140-1144(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION OF THE HTH OST-TYPE DOMAIN.
[10]"OST-HTH: a novel predicted RNA-binding domain."
Anantharaman V., Zhang D., Aravind L.
Biol. Direct 5:13-13(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION OF THE HTH OST-TYPE DOMAIN.
[11]"Mutations in the RNA granule component TDRD7 cause cataract and glaucoma."
Lachke S.A., Alkuraya F.S., Kneeland S.C., Ohn T., Aboukhalil A., Howell G.R., Saadi I., Cavallesco R., Yue Y., Tsai A.C., Nair K.S., Cosma M.I., Smith R.S., Hodges E., Alfadhli S.M., Al-Hajeri A., Shamseldin H.E., Behbehani A. expand/collapse author list , Hannon G.J., Bulyk M.L., Drack A.V., Anderson P.J., John S.W., Maas R.L.
Science 331:1571-1576(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, RNA-BINDING, SUBCELLULAR LOCATION, VARIANT CTRCT36 VAL-618 DEL.
[12]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK294488 mRNA. Translation: BAG57710.1.
AK301954 mRNA. Translation: BAG63369.1.
AK314853 mRNA. Translation: BAG37370.1.
AL512590, AL449464 Genomic DNA. Translation: CAH71605.1.
AL449464, AL512590 Genomic DNA. Translation: CAI14933.1.
CH471105 Genomic DNA. Translation: EAW58844.1.
BC028694 mRNA. Translation: AAH28694.1.
AB025254 mRNA. Translation: BAA76379.1.
AL122110 mRNA. Translation: CAB59271.1.
CCDSCCDS6725.1. [Q8NHU6-1]
PIRT34547.
RefSeqNP_055105.2. NM_014290.2. [Q8NHU6-1]
XP_006717088.1. XM_006717025.1. [Q8NHU6-2]
UniGeneHs.193842.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3RCOX-ray1.80A/B1-82[»]
ProteinModelPortalQ8NHU6.
SMRQ8NHU6. Positions 1-77, 234-412, 663-787, 970-1077.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116994. 8 interactions.
IntActQ8NHU6. 6 interactions.
MINTMINT-2871006.
STRING9606.ENSP00000347444.

PTM databases

PhosphoSiteQ8NHU6.

Polymorphism databases

DMDM152031705.

Proteomic databases

MaxQBQ8NHU6.
PaxDbQ8NHU6.
PRIDEQ8NHU6.

Protocols and materials databases

DNASU23424.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355295; ENSP00000347444; ENSG00000196116. [Q8NHU6-1]
ENST00000422139; ENSP00000413608; ENSG00000196116. [Q8NHU6-2]
ENST00000540902; ENSP00000440717; ENSG00000196116. [Q8NHU6-3]
GeneID23424.
KEGGhsa:23424.
UCSCuc004axj.3. human. [Q8NHU6-1]
uc011luy.2. human. [Q8NHU6-3]

Organism-specific databases

CTD23424.
GeneCardsGC09P100174.
H-InvDBHIX0008211.
HGNCHGNC:30831. TDRD7.
HPACAB020800.
HPA024529.
MIM611258. gene.
613887. phenotype.
neXtProtNX_Q8NHU6.
PharmGKBPA134937960.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG256635.
HOVERGENHBG103662.
InParanoidQ8NHU6.
OMAYDTSGED.
OrthoDBEOG7BW0HQ.
PhylomeDBQ8NHU6.

Gene expression databases

BgeeQ8NHU6.
CleanExHS_TDRD7.
GenevestigatorQ8NHU6.

Family and domain databases

InterProIPR025605. OST-HTH/LOTUS_dom.
IPR002999. Tudor.
[Graphical view]
PfamPF12872. OST-HTH. 1 hit.
PF00567. TUDOR. 3 hits.
[Graphical view]
SMARTSM00333. TUDOR. 2 hits.
[Graphical view]
PROSITEPS51644. HTH_OST. 3 hits.
PS50304. TUDOR. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTDRD7.
GenomeRNAi23424.
NextBio45647.
PROQ8NHU6.
SOURCESearch...

Entry information

Entry nameTDRD7_HUMAN
AccessionPrimary (citable) accession number: Q8NHU6
Secondary accession number(s): A6NCI6 expand/collapse secondary AC list , B2RBX3, B4DG99, B4DXF7, E7EQD4, Q5VV27, Q96JT1, Q9UFF0, Q9Y2M3
Entry history
Integrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: July 10, 2007
Last modified: July 9, 2014
This is version 103 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 9

Human chromosome 9: entries, gene names and cross-references to MIM