TNRC6C trinucleotide repeat containing adaptor 6C [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNRC6Cprovided by HGNC
Official Full Name: trinucleotide repeat containing adaptor 6Cprovided by HGNC
Primary source: HGNC:HGNC:29318
See related: Ensembl:ENSG00000078687 MIM:610741; AllianceGenome:HGNC:29318
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable RNA binding activity. Involved in miRNA-mediated post-transcriptional gene silencing; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; and positive regulation of nuclear-transcribed mRNA poly(A) tail shortening. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 4.2), testis (RPKM 3.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (77957557..78108835)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (78851592..79002521)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (75953639..76104916)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
Title: Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
Impact of scaffolding protein TNRC6 paralogs on gene expression and splicing.
Title: Impact of scaffolding protein TNRC6 paralogs on gene expression and splicing.
Expression of TNRC6 (GW182) Proteins Is Not Necessary for Gene Silencing by Fully Complementary RNA Duplexes.
Title: Expression of TNRC6 (GW182) Proteins Is Not Necessary for Gene Silencing by Fully Complementary RNA Duplexes.
The TNRC6 proteins bind to the 5'end of HCV RNA in a miR-122-dependent fashion and contribute functionally to replication of the viral genome by spatially regulating binding of miR-122/Ago2 to the 5'UTR.
Title: TNRC6 proteins modulate hepatitis C virus replication by spatially regulating the binding of miR-122/Ago2 complexes to viral RNA.
confirmed the anti-proliferative, pro-apoptotic and pro-autophagy capabilities of TNRC6C-AS1 through STK4 methylation via the Hippo signalling pathway in thyroid carcinoma
Title: Suppression of long non-coding RNA TNRC6C-AS1 protects against thyroid carcinoma through DNA demethylation of STK4 via the Hippo signalling pathway.
These findings reveal that despite species-specific differences in the relative strength of the PABPC1-binding sites, the interaction between GW182 proteins and PABPC1 is critical for miRNA-mediated silencing in animal cells.
Title: Two PABPC1-binding sites in GW182 proteins promote miRNA-mediated gene silencing.
The authors show that a conserved motif in the human GW182 paralog TNRC6C interacts with the C-terminal domain of polyadenylate binding protein 1 (PABC) and present the crystal structure of the complex.
Title: Structural insights into the human GW182-PABC interaction in microRNA-mediated deadenylation.
Our findings indicate that TNRC6C, is recruited to miRNA targets through an interaction between their N-terminal domain and an Argonaute protein
Title: The C-terminal domains of human TNRC6A, TNRC6B, and TNRC6C silence bound transcripts independently of Argonaute proteins.
Through deletion and mutagenesis, study identified the C-terminal part of TNRC6C encompassing the RRM RNA-binding motif as a key effector domain mediating protein synthesis repression by TNRC6C.
Title: Importance of the C-terminal domain of the human GW182 protein TNRC6C for translational repression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

FLJ20015 (e-PCR), detects polymorphism
- UniSTS:279604

RH65140 (e-PCR)
- UniSTS:80218

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-105798 (e-PCR)
- UniSTS:169435

SHGC-105772 (e-PCR)
- UniSTS:169437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in miRNA-mediated gene silencing by inhibition of translation	TAS Traceable Author Statement more info	PubMed
involved_in miRNA-mediated post-transcriptional gene silencing	IBA Inferred from Biological aspect of Ancestor more info
involved_in miRNA-mediated post-transcriptional gene silencing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in P-body	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: trinucleotide repeat-containing gene 6C protein

Names: trinucleotide repeat containing 6C

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001142640.2 → NP_001136112.2 trinucleotide repeat-containing gene 6C protein isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC015804, AC021593

UniProtKB/Swiss-Prot

A0A8Q3SIH5, A0A8Q3SIS0, G3XAB8, Q86UE5, Q8N3D8, Q96MU9, Q9HCJ0

UniProtKB/TrEMBL

A0A1B0GU24

Related

ENSP00000512514.1, ENST00000696270.1

Conserved Domains (4) summary

smart00360
Location:1762 → 1825

RRM; RNA recognition motif

cd14283
Location:1148 → 1185

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:1035 → 1151

Ago_hook; Argonaute hook

pfam12938
Location:1227 → 1456

M_domain; M domain of GW182
NM_001395508.1 → NP_001382437.1 trinucleotide repeat-containing gene 6C protein isoform 3

Status: VALIDATED

Source sequence(s)

AC021593

Consensus CDS

CCDS45799.1

UniProtKB/TrEMBL

A0AAA9XYZ6

Conserved Domains (6) summary

cd14283
Location:938 → 975

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:825 → 941

Ago_hook; Argonaute hook

pfam12938
Location:1017 → 1246

M_domain; M domain of GW182

pfam16608
Location:1255 → 1548

TNRC6-PABC_bdg; TNRC6-PABC binding domain

cd12713
Location:1544 → 1631

RRM_TNRC6C; RNA recognition motif (RRM) found in vertebrate trinucleotide repeat-containing gene 6C protein (TNRC6C)

NF033849
Location:258 → 420

ser_rich_anae_1; serine-rich protein
NM_001395509.1 → NP_001382438.1 trinucleotide repeat-containing gene 6C protein isoform 4

Status: VALIDATED

Source sequence(s)

AC015804, AC021593

UniProtKB/TrEMBL

A0A1B0GU24

Conserved Domains (4) summary

smart00360
Location:1731 → 1794

RRM; RNA recognition motif

cd14283
Location:1148 → 1185

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:1035 → 1151

Ago_hook; Argonaute hook

pfam12938
Location:1236 → 1464

M_domain; M domain of GW182
NM_001395510.1 → NP_001382439.1 trinucleotide repeat-containing gene 6C protein isoform 5

Status: VALIDATED

Source sequence(s)

AC015804, AC021593

Consensus CDS

CCDS92403.1

UniProtKB/TrEMBL

A0A1B0GU24

Related

ENSP00000512702.1, ENST00000696541.1

Conserved Domains (4) summary

smart00360
Location:1723 → 1786

RRM; RNA recognition motif

cd14283
Location:1148 → 1185

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:1035 → 1151

Ago_hook; Argonaute hook

pfam12938
Location:1227 → 1456

M_domain; M domain of GW182
NM_001395511.1 → NP_001382440.1 trinucleotide repeat-containing gene 6C protein isoform 6

Status: VALIDATED

Source sequence(s)

AC021593

UniProtKB/TrEMBL

A0AAA9XYZ6

Conserved Domains (4) summary

smart00360
Location:1560 → 1623

RRM; RNA recognition motif

cd14283
Location:938 → 975

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:825 → 941

Ago_hook; Argonaute hook

pfam12938
Location:1026 → 1254

M_domain; M domain of GW182
NM_001395512.1 → NP_001382441.1 trinucleotide repeat-containing gene 6C protein isoform 7

Status: VALIDATED

Source sequence(s)

AC015804, AC021593

UniProtKB/TrEMBL

A0AAA9XYZ6

Conserved Domains (6) summary

cd14283
Location:938 → 975

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:825 → 941

Ago_hook; Argonaute hook

pfam12938
Location:1017 → 1246

M_domain; M domain of GW182

pfam16608
Location:1255 → 1509

TNRC6-PABC_bdg; TNRC6-PABC binding domain

cd12713
Location:1505 → 1592

RRM_TNRC6C; RNA recognition motif (RRM) found in vertebrate trinucleotide repeat-containing gene 6C protein (TNRC6C)

NF033849
Location:258 → 420

ser_rich_anae_1; serine-rich protein
NM_018996.3 → NP_061869.2 trinucleotide repeat-containing gene 6C protein isoform 2

See identical proteins and their annotated locations for NP_061869.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) has the same N- and C-termini but lacks a 3 amino acid segment near the N-terminus and a 39 amino acid segment near the C-terminus, compared to isoform 1.

Source sequence(s)

AB046802, AC021593, AI337097, DA339992, DV080590

UniProtKB/TrEMBL

A0AAA9XYZ6

Related

ENSP00000468647.2, ENST00000588061.6

Conserved Domains (5) summary

cd12713
Location:1513 → 1595

RRM_TNRC6C; RNA recognition motif in vertebrate trinucleotide repeat-containing gene 6C protein (TNRC6C)

cd14283
Location:941 → 978

UBA_TNR6C; UBA domain found in trinucleotide repeat-containing gene 6C protein (TNRC6C) and similar proteins

pfam10427
Location:822 → 938

Ago_hook; Argonaute hook

pfam12938
Location:1020 → 1248

M_domain; M domain of GW182

pfam16608
Location:1258 → 1512

TNRC6-PABC_bdg; TNRC6-PABC binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

77957557..78108835

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436496.1 → XP_047292452.1 trinucleotide repeat-containing gene 6C protein isoform X14

UniProtKB/TrEMBL

A0AAA9XYZ6
XM_047436485.1 → XP_047292441.1 trinucleotide repeat-containing gene 6C protein isoform X1

UniProtKB/TrEMBL

A0A1B0GU24
XM_006721996.5 → XP_006722059.4 trinucleotide repeat-containing gene 6C protein isoform X3

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436487.1 → XP_047292443.1 trinucleotide repeat-containing gene 6C protein isoform X4

UniProtKB/TrEMBL

A0A1B0GU24
XM_006721997.5 → XP_006722060.4 trinucleotide repeat-containing gene 6C protein isoform X6

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436490.1 → XP_047292446.1 trinucleotide repeat-containing gene 6C protein isoform X8

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436492.1 → XP_047292448.1 trinucleotide repeat-containing gene 6C protein isoform X10

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436494.1 → XP_047292450.1 trinucleotide repeat-containing gene 6C protein isoform X12

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436486.1 → XP_047292442.1 trinucleotide repeat-containing gene 6C protein isoform X2

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436488.1 → XP_047292444.1 trinucleotide repeat-containing gene 6C protein isoform X5

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436489.1 → XP_047292445.1 trinucleotide repeat-containing gene 6C protein isoform X7

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436491.1 → XP_047292447.1 trinucleotide repeat-containing gene 6C protein isoform X9

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436493.1 → XP_047292449.1 trinucleotide repeat-containing gene 6C protein isoform X11

UniProtKB/TrEMBL

A0A1B0GU24
XM_047436495.1 → XP_047292451.1 trinucleotide repeat-containing gene 6C protein isoform X13

UniProtKB/TrEMBL

A0A1B0GU24

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

78851592..79002521

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316816.1 → XP_054172791.1 trinucleotide repeat-containing gene 6C protein isoform X14

UniProtKB/TrEMBL

A0AAA9XYZ6
XM_054316803.1 → XP_054172778.1 trinucleotide repeat-containing gene 6C protein isoform X1

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316805.1 → XP_054172780.1 trinucleotide repeat-containing gene 6C protein isoform X3

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316806.1 → XP_054172781.1 trinucleotide repeat-containing gene 6C protein isoform X4

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316808.1 → XP_054172783.1 trinucleotide repeat-containing gene 6C protein isoform X6

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316810.1 → XP_054172785.1 trinucleotide repeat-containing gene 6C protein isoform X8

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316812.1 → XP_054172787.1 trinucleotide repeat-containing gene 6C protein isoform X10

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316814.1 → XP_054172789.1 trinucleotide repeat-containing gene 6C protein isoform X12

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316804.1 → XP_054172779.1 trinucleotide repeat-containing gene 6C protein isoform X2

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316807.1 → XP_054172782.1 trinucleotide repeat-containing gene 6C protein isoform X5

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316809.1 → XP_054172784.1 trinucleotide repeat-containing gene 6C protein isoform X7

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316811.1 → XP_054172786.1 trinucleotide repeat-containing gene 6C protein isoform X9

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316813.1 → XP_054172788.1 trinucleotide repeat-containing gene 6C protein isoform X11

UniProtKB/TrEMBL

A0A1B0GU24
XM_054316815.1 → XP_054172790.1 trinucleotide repeat-containing gene 6C protein isoform X13

UniProtKB/TrEMBL

A0A1B0GU24