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KCND1 potassium voltage-gated channel subfamily D member 1 [ Homo sapiens (human) ]

Gene ID: 3750, updated on 26-May-2016
Official Symbol
KCND1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily D member 1provided by HGNC
Primary source
HGNC:HGNC:6237
See related
Ensembl:ENSG00000102057 HPRD:02233; MIM:300281; Vega:OTTHUMG00000024127
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
KV4.1
Summary
This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]
Orthologs
Location:
Xp11.23
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (48960983..48971844, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48818639..48828251, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase Neighboring gene OTU deubiquitinase 5 Neighboring gene GRIP1 associated protein 1 Neighboring gene transcription factor binding to IGHM enhancer 3

Related articles in PubMed

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 ...
  • 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.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Phase 1 - inactivation of fast Na+ channels, organism-specific biosystem (from REACTOME)
    Phase 1 - inactivation of fast Na+ channels, organism-specific biosystemPhase 1 of the cardiac action potential is the inactivation of the fast Na+ channels. The transient net outward current causing the small downward deflection (the "notch" of the action potetial) is d...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
A-type (transient outward) potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac conduction TAS
Traceable Author Statement
more info
 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
potassium voltage-gated channel subfamily D member 1
Names
Shal-type potassium channel
potassium channel, voltage gated Shal related subfamily D, member 1
potassium voltage-gated channel, Shal-related subfamily, member 1
voltage-gated potassium channel subunit Kv4.1

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_012515.2 RefSeqGene

    Range
    4996..15462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004979.5NP_004970.3  potassium voltage-gated channel subfamily D member 1 precursor

    See identical proteins and their annotated locations for NP_004970.3

    Status: REVIEWED

    Source sequence(s)
    AC233294, AJ005898, AK094431, BC045659
    Consensus CDS
    CCDS14314.1
    UniProtKB/Swiss-Prot
    Q9NSA2
    Related
    ENSP00000218176, OTTHUMP00000025805, ENST00000218176, OTTHUMT00000060774
    Conserved Domains (5) summary
    pfam11601
    Location:328
    Shal-type; Shal-type voltage-gated potassium channels
    pfam00520
    Location:233407
    Ion_trans; Ion transport protein
    pfam02214
    Location:42131
    BTB_2; BTB/POZ domain
    pfam07885
    Location:333408
    Ion_trans_2; Ion channel
    pfam11879
    Location:447551
    DUF3399; Domain of unknown function (DUF3399)

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_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    48960983..48971844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543910.1XP_011542212.1  

    See identical proteins and their annotated locations for XP_011542212.1

    UniProtKB/Swiss-Prot
    Q9NSA2
    Conserved Domains (5) summary
    pfam11601
    Location:328
    Shal-type; Shal-type voltage-gated potassium channels
    pfam00520
    Location:233407
    Ion_trans; Ion transport protein
    pfam02214
    Location:42131
    BTB_2; BTB/POZ domain
    pfam07885
    Location:333408
    Ion_trans_2; Ion channel
    pfam11879
    Location:447551
    DUF3399; Domain of unknown function (DUF3399)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    48849929..48859553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)