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

    Gene ID: 51061, updated on 27-Nov-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. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 51.7), thyroid (RPKM 30.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TXNDC11 in Genome Data Viewer
    Location:
    16p13.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11679083..11742857, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (11715131..11778900, complement)
    RS_2024_09 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. High Thioredoxin Domain-Containing Protein 11 Expression Is Associated with Tumour Progression in Glioma. Chen YT, et al. Int J Mol Sci, 2023 Aug 29. PMID 37686174, Free PMC Article
    3. 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
    4. Identification of a novel partner of duox: EFP1, a thioredoxin-related protein. Wang D, et al. J Biol Chem, 2005 Jan 28. PMID 15561711
    5. Hepatitis C virus infection protein network. de Chassey B, et al. Mol Syst Biol, 2008. PMID 18985028, Free PMC Article

    See all (35) 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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