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TXNDC15 thioredoxin domain containing 15 [ Homo sapiens (human) ]

Gene ID: 79770, updated on 23-Nov-2021

Summary

Official Symbol
TXNDC15provided by HGNC
Official Full Name
thioredoxin domain containing 15provided by HGNC
Primary source
HGNC:HGNC:20652
See related
Ensembl:ENSG00000113621 MIM:617778
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
BUG; UNQ335; C5orf14
Summary
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in thyroid (RPKM 14.9), endometrium (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

See TXNDC15 in Genome Data Viewer
Location:
5q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (134873770..134901635)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134209460..134237325)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 46 Neighboring gene ribosomal protein L34 pseudogene 13 Neighboring gene chromosome 5 open reading frame 24 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 Neighboring gene MT-CYB pseudogene 18 Neighboring gene MT-ND6 pseudogene 4

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

Phenotypes

Associated conditions

Description Tests
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22625

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
thioredoxin domain-containing protein 15
Names
2310047H23Rik
disulfide isomerase

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.

Genomic

  1. NG_053174.1 RefSeqGene

    Range
    5001..32864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350735.2NP_001337664.1  thioredoxin domain-containing protein 15 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC006077
    Conserved Domains (1) summary
    cd02999
    Location:120223
    PDI_a_ERp44_like; PDIa family, endoplasmic reticulum protein 44 (ERp44)-like subfamily; composed of uncharacterized PDI-like eukaryotic proteins containing only one redox active TRX (a) domain with a CXXS motif, similar to ERp44. CXXS is still a redox active motif; ...
  2. NM_024715.4NP_078991.3  thioredoxin domain-containing protein 15 isoform 1 precursor

    See identical proteins and their annotated locations for NP_078991.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC006077, BC032568, BX538131
    Consensus CDS
    CCDS4180.1
    UniProtKB/Swiss-Prot
    Q96J42
    UniProtKB/TrEMBL
    Q7Z345
    Related
    ENSP00000351157.5, ENST00000358387.9
    Conserved Domains (1) summary
    cd02999
    Location:188291
    PDI_a_ERp44_like; PDIa family, endoplasmic reticulum protein 44 (ERp44)-like subfamily; composed of uncharacterized PDI-like eukaryotic proteins containing only one redox active TRX (a) domain with a CXXS motif, similar to ERp44. CXXS is still a redox active motif; ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    134873770..134901635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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