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JPH3 junctophilin 3 [ Homo sapiens (human) ]

Gene ID: 57338, updated on 8-Apr-2014
Official Symbol
JPH3provided by HGNC
Official Full Name
junctophilin 3provided by HGNC
Primary source
HGNC:14203
See related
Ensembl:ENSG00000154118; HPRD:05589; MIM:605268; Vega:OTTHUMG00000137656
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
JP3; HDL2; JP-3; TNRC22; CAGL237
Summary
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
Location :
16q24.3
Sequence :
Chromosome: 16; NC_000016.10 (87601835..87698156)
See JPH3 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene F-box protein 31 Neighboring gene microtubule-associated protein 1 light chain 3 beta Neighboring gene zinc finger, CCHC domain containing 14 Neighboring gene nuclear receptor subfamily 3, group C, member 1 pseudogene 1 Neighboring gene uncharacterized LOC100129215 Neighboring gene uncharacterized LOC100129637 Neighboring gene kelch domain containing 4 Neighboring gene uncharacterized LOC102724467 Neighboring gene microRNA 6775 Neighboring gene solute carrier family 7 (amino acid transporter light chain, L system), member 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-release channel activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
calcium ion transport into cytosol TAS
Traceable Author Statement
more info
PubMed 
exploration behavior IEA
Inferred from Electronic Annotation
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
locomotion IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
regulation of neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
junctional membrane complex IEA
Inferred from Electronic Annotation
more info
 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
junctophilin-3
Names
junctophilin-3
junctophilin type 3
trinucleotide repeat containing 22

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_009797.1 RefSeqGene

    Range
    3943..100264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271604.2NP_001258533.1  junctophilin-3 isoform 2

    See proteins identical to NP_001258533.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The latter results in a frame-shift and a much shorter isoform (2) with a distinct C-terminus containing a 13 aa polyalanine stretch compared to isoform 1. This variant is described in PMID:11694876.
    Source sequence(s)
    AB593088, BC008690
    UniProtKB/TrEMBL
    F8W9A3
    UniProtKB/TrEMBL
    Q96HD8
    Conserved Domains (2) summary
    pfam02493
    Location:107128
    Blast Score: 77
    MORN; MORN repeat
    cl14787
    Location:290
    Blast Score: 87
    MORN; MORN repeat
  2. NM_001271605.1NP_001258534.1  junctophilin-3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. The latter results in a frame-shift and a much shorter isoform (3) with a distinct C-terminus compared to isoform 1. This variant is described in PMID:11694876.
    Source sequence(s)
    AB593088, BC008690
    UniProtKB/TrEMBL
    F8W9A3
    UniProtKB/TrEMBL
    Q96HD8
    Conserved Domains (1) summary
    PLN03185
    Location:5132
    Blast Score: 202
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
  3. NM_020655.3NP_065706.2  junctophilin-3 isoform 1

    See proteins identical to NP_065706.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB593088, AK295518, AW954561, BC036533, BQ014355
    Consensus CDS
    CCDS10962.1
    UniProtKB/TrEMBL
    B4DIC1
    UniProtKB/TrEMBL
    F8W9A3
    UniProtKB/Swiss-Prot
    Q8WXH2
    Related
    ENSP00000284262, OTTHUMP00000175011, ENST00000284262, OTTHUMT00000269108
    Conserved Domains (2) summary
    pfam02493
    Location:311333
    Blast Score: 93
    MORN; MORN repeat
    cl14787
    Location:39147
    Blast Score: 103
    MORN; MORN repeat

RNA

  1. NR_073379.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and is alternately spliced at the 3' end compared to variant 1. The latter renders this variant a candidate for nonsense-mediated mRNA decay (NMD), hence it is represented as non-coding.
    Source sequence(s)
    AA813196, AK295518, BC036533, BG205692, BQ014355

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10

    Range
    87601835..87698156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721237.1XP_006721300.1  

    See proteins identical to XP_006721300.1

    Conserved Domains (1) summary
    pfam02493
    Location:174196
    Blast Score: 103
    MORN; MORN repeat

Alternate HuRef

Genomic

  1. AC_000148.1 Alternate HuRef

    Range
    73376273..73472834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    89047216..89143211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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