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TDRD7 tudor domain containing 7 [ Homo sapiens (human) ]

Gene ID: 23424, updated on 20-Dec-2019

Summary

Official Symbol
TDRD7provided by HGNC
Official Full Name
tudor domain containing 7provided by HGNC
Primary source
HGNC:HGNC:30831
See related
Ensembl:ENSG00000196116 MIM:611258
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRAP; CATC4; PCTAIRE2BP
Summary
The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Broad expression in testis (RPKM 24.1), duodenum (RPKM 7.8) and 24 other tissues See more
Orthologs

Genomic context

See TDRD7 in Genome Data Viewer
Location:
9q22.33
Exon count:
17
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (97412096..97496125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100174302..100258407)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376167 Neighboring gene uncharacterized LOC286359 Neighboring gene GATA motif-containing MPRA enhancer 268 Neighboring gene uncharacterized LOC105376168 Neighboring gene tropomodulin 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1529

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
lens fiber cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
lens morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
posttranscriptional regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
chromatoid body ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tudor domain-containing protein 7
Names
PCTAIRE2-binding protein
epididymis secretory sperm binding protein
tudor repeat associator with PCTAIRE 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028984.1 RefSeqGene

    Range
    5077..89106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302884.2NP_001289813.1  tudor domain-containing protein 7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK294488, AL122110, AL449464, AL512590
    UniProtKB/Swiss-Prot
    Q8NHU6
    Conserved Domains (5) summary
    cd04508
    Location:633678
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cd09973
    Location:160226
    LOTUS_2_TDRD7; The second LOTUS domain on Tudor-containing protein 7 (TDRD7)
    cd09974
    Location:264330
    LOTUS_3_TDRD7; The third LOTUS domain on Tudor-containing protein 7 (TDRD7)
    pfam00567
    Location:835952
    TUDOR; Tudor domain
    cl14879
    Location:117
    LabA_like_C; C-terminal domain of LabA_like proteins
  2. NM_014290.3NP_055105.2  tudor domain-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_055105.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL449464, BC028694
    Consensus CDS
    CCDS6725.1
    UniProtKB/Swiss-Prot
    Q8NHU6
    Related
    ENSP00000347444.4, ENST00000355295.5
    Conserved Domains (5) summary
    cd04508
    Location:707752
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    cd09973
    Location:234300
    LOTUS_2_TDRD7; The second LOTUS domain on Tudor-containing protein 7 (TDRD7)
    cd09974
    Location:338404
    LOTUS_3_TDRD7; The third LOTUS domain on Tudor-containing protein 7 (TDRD7)
    cd09986
    Location:491
    LOTUS_1_TDRD7; The first LOTUS domain on Tudor-containing protein 7 (TDRD7)
    pfam00567
    Location:9091026
    TUDOR; Tudor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    97412096..97496125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717026.3XP_006717089.1  tudor domain-containing protein 7 isoform X1

    Conserved Domains (2) summary
    cd04508
    Location:262307
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    pfam00567
    Location:464581
    TUDOR; Tudor domain

RNA

  1. XR_929741.2 RNA Sequence

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