Format

Send to:

Choose Destination

TRDN triadin [ Homo sapiens (human) ]

Gene ID: 10345, updated on 8-May-2016
Official Symbol
TRDNprovided by HGNC
Official Full Name
triadinprovided by HGNC
Primary source
HGNC:HGNC:12261
See related
Ensembl:ENSG00000186439 HPRD:04474; MIM:603283; Vega:OTTHUMG00000015497
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
TDN; CPVT5; TRISK
Summary
This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]
Orthologs
Location:
6q22.31
Exon count:
42
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (123216339..123637283, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123537484..123958428, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377980 Neighboring gene clavesin 2 Neighboring gene uncharacterized LOC105377984 Neighboring gene uncharacterized LOC105377983 Neighboring gene uncharacterized LOC105377982 Neighboring gene uncharacterized LOC105377981 Neighboring gene heart tissue-associated transcript 13 Neighboring gene Na+/K+ transporting ATPase interacting 2 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene ring finger protein 217

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC88285, DKFZp779I2253

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
 
ion channel binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic microtubule organization ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane organization ISS
Inferred from Sequence or Structural Similarity
more info
 
heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
negative regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell communication by electrical coupling involved in cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cardiac muscle cell membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of cardiac muscle cell membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell communication by electrical coupling TAS
Traceable Author Statement
more info
PubMed 
regulation of release of sequestered calcium ion into cytosol TAS
Traceable Author Statement
more info
PubMed 
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
junctional membrane complex ISS
Inferred from Sequence or Structural Similarity
more info
 
junctional sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum lumen TAS
Traceable Author Statement
more info
PubMed 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

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_030438.1 RefSeqGene

    Range
    5001..425755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001251987.1NP_001238916.1  triadin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, uses an alternate splice site in the 5' coding region, and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA401295, AJ489257, AK307619, AL357352, BE646014
    UniProtKB/TrEMBL
    Q8IVK2
  2. NM_001256020.1NP_001242949.1  triadin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' end, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct and significantly shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AA401295, AL445259, BC139910
    Consensus CDS
    CCDS59034.1
    UniProtKB/Swiss-Prot
    Q13061
    Related
    ENSP00000486095, OTTHUMP00000278830, ENST00000628709, OTTHUMT00000483256
    Conserved Domains (1) summary
    pfam05279
    Location:5073
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  3. NM_001256021.1NP_001242950.1  triadin isoform 4

    See identical proteins and their annotated locations for NP_001242950.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 3' exons but contains an alternate 3' end, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4, also known as Trisk 32) has a distinct and significantly shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AA401295, AI371054, AL445259, JN900469
    Consensus CDS
    CCDS75511.1
    UniProtKB/TrEMBL
    H9ME53
    Related
    ENSP00000439281, ENST00000546248
    Conserved Domains (1) summary
    pfam05279
    Location:5073
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  4. NM_001256022.1NP_001242951.1  triadin isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several 3' exons but contains an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct and significantly shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AA401295, AL445259, BC070290
    Consensus CDS
    CCDS59035.1
    UniProtKB/Swiss-Prot
    Q13061
    Related
    ENSP00000437684, OTTHUMP00000017125, ENST00000542443, OTTHUMT00000042051
    Conserved Domains (1) summary
    pfam05279
    Location:5073
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  5. NM_006073.3NP_006064.2  triadin isoform 1

    See identical proteins and their annotated locations for NP_006064.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA401295, AI375093, AK307619, AL357352, AL603902, BC012590, BM678702, U18985
    Consensus CDS
    CCDS55053.1
    UniProtKB/Swiss-Prot
    Q13061
    Related
    ENSP00000333984, OTTHUMP00000017124, ENST00000334268, OTTHUMT00000042050
    Conserved Domains (1) summary
    PTZ00121
    Location:428672
    PTZ00121; MAEBL; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    123216339..123637283 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535382.1XP_011533684.1  

    Conserved Domains (1) summary
    PTZ00121
    Location:422657
    PTZ00121; MAEBL; Provisional

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    123801225..124221793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)