TXNL1 thioredoxin like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TXNL1provided by HGNC
Official Full Name: thioredoxin like 1provided by HGNC
Primary source: HGNC:HGNC:12436
See related: Ensembl:ENSG00000091164 MIM:603049; AllianceGenome:HGNC:12436
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
Also known as: Txl; TXNL; TRP32; TXL-1; HEL-S-114
Summary: Enables disulfide oxidoreductase activity. Located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 57.8), testis (RPKM 14.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.31

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (56597209..56638592, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (56799245..56840564, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (54264440..54305823, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TXNL1-XRCC1 is a novel regulatory pathway that has an independent role in cisplatin resistance, indicating a putative drug target for reversing cisplatin resistance in gastric cancer.
Title: TXNL1-XRCC1 pathway regulates cisplatin-induced cell death and contributes to resistance in human gastric cancer.
TXNL1 is a novel regulatory molecule that inhibits cisplatin resistance in gastric cancer cells.
Title: TXNL1-XRCC1 pathway regulates cisplatin-induced cell death and contributes to resistance in human gastric cancer.
Results suggest that TRP32 maintains the reduced state of PRL and thus regulates the biological function of PRL.
Title: Thioredoxin-related protein 32 (TRP32) specifically reduces oxidized phosphatase of regenerating liver (PRL).
Distinct protein expression patterns, affecting TXNL1 and HDAC2, distinguish aneuploid with poor prognosis from diploid colorectal cancers.
Title: HDAC2 and TXNL1 distinguish aneuploid from diploid colorectal cancers.
Solution structure of the C-terminal DUF1000 domain of the human thioredoxin-like 1 protein.
Title: Solution structure of the C-terminal DUF1000 domain of the human thioredoxin-like 1 protein.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
TRP32 was identified as a novel subunit of the 26 S proteasome.
Title: Thioredoxin-related Protein 32 is an arsenite-regulated Thiol Reductase of the proteasome 19 S particle.
Txnl1 is the first example of a direct connection between protein reduction and proteolysis, two major intracellular protein quality control mechanisms.
Title: Thioredoxin Txnl1/TRP32 is a redox-active cofactor of the 26 S proteasome.
TXNL1 acts as an effector of oxidants or a redox sensor by converting redox changes into changes of GDI capacity to capture Rab5, which in turn modulates fluid phase endocytosis
Title: The redox sensor TXNL1 plays a regulatory role in fluid phase endocytosis.
results imply that TRP-1 is a mammalian thioredoxin and plays as a transcriptional repressor through direct binding to the transcription factor B-Myb
Title: Expression of a thioredoxin-related protein-1 is induced by prostaglandin E(2).

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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
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. 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

D18S1278 (e-PCR)
- UniSTS:40502

RH15916 (e-PCR)
- UniSTS:69331

RH103452 (e-PCR)
- UniSTS:97777

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables disulfide oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-disulfide reductase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: thioredoxin-like protein 1

Names: 32 kDa thioredoxin-related protein; epididymis secretory protein Li 114; thioredoxin-related 32 kDa protein; thioredoxin-related protein 1

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_004786.3 → NP_004777.1 thioredoxin-like protein 1

See identical proteins and their annotated locations for NP_004777.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the protein coding transcript.

Source sequence(s)

AC007052, AF003938, AV750604

Consensus CDS

CCDS11961.1

UniProtKB/Swiss-Prot

O43396

UniProtKB/TrEMBL

B2R960, V9HW51

Related

ENSP00000217515.5, ENST00000217515.11

Conserved Domains (2) summary

cd02947
Location:12 → 104

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

pfam06201
Location:128 → 268

PITH; PITH domain

RNA

NR_024546.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an additional exon compared to transcript variant 1. This results in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense mediated mRNA decay (NMD). This transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because it is significantly truncated.

Source sequence(s)

AC007052, AF003938, AV750604, DA248363

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

56597209..56638592 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024451289.2 → XP_024307057.1 thioredoxin-like protein 1 isoform X1

UniProtKB/TrEMBL

B2R960

Conserved Domains (2) summary

cd02947
Location:12 → 104

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

pfam06201
Location:128 → 268

PITH; PITH domain
XM_024451290.2 → XP_024307058.1 thioredoxin-like protein 1 isoform X2

UniProtKB/TrEMBL

B2R960

Related

ENSP00000468165.1, ENST00000586262.5

Conserved Domains (2) summary

cd02947
Location:12 → 104

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

pfam06201
Location:128 → 268

PITH; PITH domain