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TXNDC11 thioredoxin domain containing 11 [ Homo sapiens (human) ]

Gene ID: 51061, updated on 3-Apr-2024

Summary

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Official Symbol
TXNDC11provided by HGNC
Official Full Name
thioredoxin domain containing 11provided by HGNC
Primary source
HGNC:HGNC:28030
See related
Ensembl:ENSG00000153066 MIM:617792; AllianceGenome:HGNC:28030
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
EFP1
Summary
Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 51.7), thyroid (RPKM 30.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.13
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11679083..11742857, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (11715131..11778900, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11772939..11836713, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11654074-11654928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:11656029-11656658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11657289-11657918 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:11657919-11658546 Neighboring gene lipopolysaccharide induced TNF factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11665841-11666778 Neighboring gene Sharpr-MPRA regulatory region 2706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11688769-11689642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11689643-11690514 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11697089-11697681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11699131-11699630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10451 Neighboring gene Sharpr-MPRA regulatory region 4417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11708187-11708794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11708795-11709402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11715855-11716623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11720940-11721474 Neighboring gene Sharpr-MPRA regulatory region 8349 Neighboring gene uncharacterized LOC124903643 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:11735633-11736296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11766535-11767354 Neighboring gene nonconserved acetylation island sequence 94 enhancer Neighboring gene stannin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10456 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:11836693-11837215 Neighboring gene TXNDC11 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10457 Neighboring gene zinc finger CCCH-type containing 7A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7209 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:11890813-11891350

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Expression analysis and functional characterization of thioredoxin domain-containing protein 11. Murase R, et al. Mol Biol Rep, 2022 Nov. PMID 36152228
  2. EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD. George G, et al. Elife, 2020 Feb 17. PMID 32065582, Free PMC Article
  3. Identification of a novel partner of duox: EFP1, a thioredoxin-related protein. Wang D, et al. J Biol Chem, 2005 Jan 28. PMID 15561711
  4. Hepatitis C virus infection protein network. de Chassey B, et al. Mol Syst Biol, 2008. PMID 18985028, Free PMC Article
  5. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Okada Y, et al. Nature, 2014 Feb 20. PMID 24390342, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High Thioredoxin Domain-Containing Protein 11 Expression Is Associated with Tumour Progression in Glioma.
    Title: High Thioredoxin Domain-Containing Protein 11 Expression Is Associated with Tumour Progression in Glioma.
  2. Expression analysis and functional characterization of thioredoxin domain-containing protein 11.
    Title: Expression analysis and functional characterization of thioredoxin domain-containing protein 11.
  3. EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD.
    Title: EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD.
  4. EFP1 is a thioredoxin-related protein and partner of duox
    Title: Identification of a novel partner of duox: EFP1, a thioredoxin-related protein.
Submit: New GeneRIF Correction

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
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
thioredoxin domain-containing protein 11
Names
EF-hand binding 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)

  1. NM_001303447.2 → NP_001290376.1  thioredoxin domain-containing protein 11 isoform 1

    See identical proteins and their annotated locations for NP_001290376.1

    Status: VALIDATED

    Source sequence(s)
    BC002856, BC013727, CN347909
    Consensus CDS
    CCDS76822.1
    UniProtKB/Swiss-Prot
    O95887, Q6PJA6, Q6PKC3, Q8N2Q4, Q96K45, Q96K53
    Related
    ENSP00000349439.3, ENST00000356957.7
    Conserved Domains (3) summary
    cd02995
    Location:692 → 794
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    cd03006
    Location:97 → 209
    PDI_a_EFP1_N; PDIa family, N-terminal EFP1 subfamily; EFP1 is a binding partner protein of thyroid oxidase (ThOX), also called Duox. ThOX proteins are responsible for the generation of hydrogen peroxide, a crucial substrate of thyroperoxidase, which functions to ...
    cl23720
    Location:830 → 915
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. NM_001324022.2 → NP_001310951.1  thioredoxin domain-containing protein 11 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC007613
    UniProtKB/TrEMBL
    B4DLP5
    Conserved Domains (2) summary
    cd02995
    Location:451 → 553
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    cl23720
    Location:589 → 674
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  3. NM_001324024.2 → NP_001310953.1  thioredoxin domain-containing protein 11 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007613
    UniProtKB/Swiss-Prot
    Q6PKC3
    Conserved Domains (2) summary
    cd02995
    Location:213 → 315
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    cl23720
    Location:351 → 436
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  4. NM_001324025.2 → NP_001310954.1  thioredoxin domain-containing protein 11 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007613
    UniProtKB/Swiss-Prot
    Q6PKC3
    Conserved Domains (2) summary
    cd02995
    Location:213 → 315
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    cl23720
    Location:351 → 436
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  5. NM_015914.7 → NP_056998.4  thioredoxin domain-containing protein 11 isoform 2

    See identical proteins and their annotated locations for NP_056998.4

    Status: VALIDATED

    Source sequence(s)
    AF131780, AK027646, CN347909
    Consensus CDS
    CCDS32387.1
    UniProtKB/Swiss-Prot
    Q6PKC3
    Related
    ENSP00000283033.5, ENST00000283033.10
    Conserved Domains (4) summary
    cd02981
    Location:219 → 323
    PDI_b_family; Protein Disulfide Isomerase (PDIb) family, redox inactive TRX-like domain b; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
    cd02995
    Location:665 → 767
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    cd03006
    Location:97 → 209
    PDI_a_EFP1_N; PDIa family, N-terminal EFP1 subfamily; EFP1 is a binding partner protein of thyroid oxidase (ThOX), also called Duox. ThOX proteins are responsible for the generation of hydrogen peroxide, a crucial substrate of thyroperoxidase, which functions to ...
    cl23720
    Location:803 → 888
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RNA

  1. NR_136671.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007613

  2. NR_136672.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007613

  3. NR_136673.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007613

  4. NR_136674.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007613

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    11679083..11742857 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522515.3 → XP_011520817.1  thioredoxin domain-containing protein 11 isoform X1

    Conserved Domains (3) summary
    cd02995
    Location:705 → 807
    PDI_a_PDI_a'_C; PDIa family, C-terminal TRX domain (a') subfamily; composed of the C-terminal redox active a' domains of PDI, ERp72, ERp57 (or ERp60) and EFP1. PDI, ERp72 and ERp57 are endoplasmic reticulum (ER)-resident eukaryotic proteins involved in oxidative protein ...
    cd03006
    Location:97 → 209
    PDI_a_EFP1_N; PDIa family, N-terminal EFP1 subfamily; EFP1 is a binding partner protein of thyroid oxidase (ThOX), also called Duox. ThOX proteins are responsible for the generation of hydrogen peroxide, a crucial substrate of thyroperoxidase, which functions to ...
    cl23720
    Location:843 → 928
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. XM_047434191.1 → XP_047290147.1  thioredoxin domain-containing protein 11 isoform X2

  3. XM_047434192.1 → XP_047290148.1  thioredoxin domain-containing protein 11 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    11715131..11778900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380431.1 → XP_054236406.1  thioredoxin domain-containing protein 11 isoform X1

  2. XM_054380432.1 → XP_054236407.1  thioredoxin domain-containing protein 11 isoform X2

  3. XM_054380433.1 → XP_054236408.1  thioredoxin domain-containing protein 11 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PKC3.2 GenPept UniProtKB/Swiss-Prot:Q6PKC3

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