Gene Gene information from NCBI Gene database.
Entrez ID 56165
Gene name Tudor domain containing 1
Gene symbol TDRD1
Synonyms (NCBI Gene)
CT41.1
Chromosome 10
Chromosome location 10q25.3
Summary This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and sil
miRNA miRNA information provided by mirtarbase database.
159
miRTarBase ID miRNA Experiments Reference
MIRT664981 hsa-miR-154-3p HITS-CLIP 23824327
MIRT664980 hsa-miR-487a-3p HITS-CLIP 23824327
MIRT664979 hsa-miR-500b-3p HITS-CLIP 23824327
MIRT664978 hsa-miR-5693 HITS-CLIP 23824327
MIRT664977 hsa-miR-103b HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ERG Activation 23319146
ERG Repression 23555854
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0007281 Process Germ cell development IEA
GO:0007281 Process Germ cell development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605796 11712 ENSG00000095627
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXT4
Protein name Tudor domain-containing protein 1 (Cancer/testis antigen 41.1) (CT41.1)
Protein function Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repre
PDB 5M9N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01753 zf-MYND 170 206 MYND finger Domain
PF00567 TUDOR 260 383 Tudor domain Domain
PF00567 TUDOR 490 611 Tudor domain Domain
PF00567 TUDOR 710 832 Tudor domain Domain
PF00567 TUDOR 936 1059 Tudor domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis and ovary specific. Also expressed in several cancers. {ECO:0000269|PubMed:12704671}.
Sequence
MSVKSPFNVMSRNNLEAPPCKMTEPFNFEKNENKLPPHESLRSPGTLPNHPNFRLKSSEN
GNKKNNFLLCEQTKQYLASQEDNSVSSNPNGINGEVVGSKGDRKKLPAGNSVSPPSAESN
SPPKEVNIKPGNNVRPAKSKKLNKLVENSLSISNPGLFTSLGPPLRSTTCHRCGLFGSLR
CSQCKQTYYCSTACQRRDWSAHSIVC
RPVQPNFHKLENKSSIETKDVEVNNKSDCPLGVT
KEIAIWAERIMFSDLRSLQLKKTMEIKGTVTEFKHPGDFYVQLYSSEVLEYMNQLSASLK
ETYANVHEKDYIPVKGEVCIAKYTVDQTWNRAIIQNVDVQQKKAHVLYIDYGNEEIIPLN
RIYHLNRNIDLFPPCAIKCFVAN
VIPAEGNWSSDCIKATKPLLMEQYCSIKIVDILEEEV
VTFAVEVELPNSGKLLDHVLIEMGYGLKPSGQDSKKENADQSDPEDVGKMTTENNIVVDK
SDLIPKVLTLNVGDEFCGVVAHIQTPEDFFCQQLQSGRKLAELQASLSKYCDQLPPRSDF
YPAIGDICCAQFSEDDQWYRASVLAYASEESVLVGYVDYGNFEILSLMRLCPIIPKLLEL
PMQAIKCVLAG
VKPSLGIWTPEAICLMKKLVQNKIITVKVVDKLENSSLVELIDKSETPH
VSVSKVLLDAGFAVGEQSMVTDKPSDVKETSVPLGVEGKVNPLEWTWVELGVDQTVDVVV
CVIYSPGEFYCHVLKEDALKKLNDLNKSLAEHCQQKLPNGFKAEIGQPCCAFFAGDGSWY
RALVKEILPNGHVKVHFVDYGNIEEVTADELRMISSTFLNLPFQGIRCQLAD
IQSRNKHW
SEEAITRFQMCVAGIKLQARVVEVTENGIGVELTDLSTCYPRIISDVLIDEHLVLKSASP
HKDLPNDRLVNKHELQVHVQGLQATSSAEQWKTIELPVDKTIQANVLEIISPNLFYALPK
GMPENQEKLCMLTAELLEYCNAPKSRPPYRPRIGDACCAKYTSDDFWYRAVVLGTSDTDV
EVLYADYGNIETLPLCRVQPITSSHLALPFQIIRCSLEG
LMELNGSSSQLIIMLLKNFML
NQNVMLSVKGITKNVHTVSVEKCSENGTVDVADKLVTFGLAKNITPQRQSALNTEKMYRM
NCCCTELQKQVEKHEHILLFLLNNSTNQNKFIEMKKLLKS
Sequence length 1180
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Male infertility Likely pathogenic rs745783399 RCV004573396
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 30195637
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 27233649 Associate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 24938434
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 37045473 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 23112866 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 23319146, 23555854, 24938434, 26857646, 27272765, 30712320
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of testis Malignant Neoplasm Of Testis BEFREE 21515969
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26857646
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 23319146, 23555854, 24938434, 26857646, 27272765, 30712320
★☆☆☆☆
Found in Text Mining only
Prostatic Hyperplasia Prostatic hyperplasia Pubtator 24938434 Associate
★☆☆☆☆
Found in Text Mining only