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KCNIP1 potassium voltage-gated channel interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 30820, updated on 17-Jun-2019

Summary

Official Symbol
KCNIP1provided by HGNC
Official Full Name
potassium voltage-gated channel interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:15521
See related
Ensembl:ENSG00000182132 MIM:604660
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
VABP; KCHIP1
Summary
This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Expression
Biased expression in brain (RPKM 5.5), testis (RPKM 1.0) and 6 other tissues See more
Orthologs

Genomic context

See KCNIP1 in Genome Data Viewer
Location:
5q35.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (170353055..170736632)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (169780491..170163636)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128059 Neighboring gene long intergenic non-protein coding RNA 1366 Neighboring gene uncharacterized LOC101928033 Neighboring gene potassium calcium-activated channel subfamily M regulatory beta subunit 1 Neighboring gene uncharacterized LOC105377716 Neighboring gene uncharacterized LOC107986473 Neighboring gene uncharacterized LOC107986474

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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.
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC95

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated ion channel activity 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
 
regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
Kv channel-interacting protein 1
Names
A-type potassium channel modulatory protein 1
Kv channel interacting protein 1
potassium channel interacting protein 1
vesicle APC-binding protein

NCBI Reference Sequences (RefSeq)

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_011538.2 RefSeqGene

    Range
    4611..387756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001034837.3NP_001030009.1  Kv channel-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001030009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as KCNP1-Ib) contains an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 5. It encodes isoform 1 which is shorter than isoform 5.
    Source sequence(s)
    AC008619, AI884645, AY170821, BC035032, BF514334, DQ148478
    Consensus CDS
    CCDS34286.1
    UniProtKB/Swiss-Prot
    Q9NZI2
    Related
    ENSP00000395323.1, ENST00000411494.5
    Conserved Domains (1) summary
    COG5126
    Location:50216
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001034838.3NP_001030010.1  Kv channel-interacting protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001030010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as KCNIP1-Ia deltaII) contains an alternate 5' terminal exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 5. It encodes isoform 3 which has a distinct N-terminus and is shorter than isoform 5.
    Source sequence(s)
    AK301775, AY780424, BC035032, DC420716
    Consensus CDS
    CCDS34285.1
    UniProtKB/Swiss-Prot
    Q9NZI2
    Related
    ENSP00000366577.4, ENST00000377360.8
    Conserved Domains (1) summary
    COG5126
    Location:48214
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. NM_001278339.2NP_001265268.1  Kv channel-interacting protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001265268.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes the longest isoform (5).
    Source sequence(s)
    AC008619, AI884645, AY170821, BC035032, BF514334, DQ148479
    Consensus CDS
    CCDS64312.1
    UniProtKB/Swiss-Prot
    Q9NZI2
    Related
    ENSP00000414886.1, ENST00000434108.5
    Conserved Domains (1) summary
    COG5126
    Location:39230
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  4. NM_001278340.2NP_001265269.1  Kv channel-interacting protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001265269.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate in-frame splice site in the 5' coding region and initiates translation at a downstream start codon, compared to variant 5. It encodes isoform 4 which is shorter than isoform 5.
    Source sequence(s)
    AC008619, AY170821, AY780424, BC035032, BF514334
    Consensus CDS
    CCDS64313.1
    UniProtKB/Swiss-Prot
    Q9NZI2
    Related
    ENSP00000431102.1, ENST00000520740.5
    Conserved Domains (1) summary
    COG5126
    Location:11177
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  5. NM_014592.4NP_055407.1  Kv channel-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_055407.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as KCNP1-Ib deltaII) uses an alternate in-frame splice site in the 5' coding region compared to variant 5. It encodes isoform 2 which is shorter than isoform 5.
    Source sequence(s)
    AC008619, AF199597, AI884645, AY170821, BC035032, BF514334
    Consensus CDS
    CCDS4374.1
    UniProtKB/Swiss-Prot
    Q9NZI2
    UniProtKB/TrEMBL
    A0A0C4DFQ7
    Related
    ENSP00000329686.4, ENST00000328939.8
    Conserved Domains (1) summary
    COG5126
    Location:39205
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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
    170353055..170736632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009408.1XP_016864897.1  Kv channel-interacting protein 1 isoform X2

  2. XM_017009407.1XP_016864896.1  Kv channel-interacting protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9NZI2
    Conserved Domains (1) summary
    COG5126
    Location:48214
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
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