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KCNIP4 potassium voltage-gated channel interacting protein 4 [ Homo sapiens (human) ]

Gene ID: 80333, updated on 19-Jun-2019

Summary

Official Symbol
KCNIP4provided by HGNC
Official Full Name
potassium voltage-gated channel interacting protein 4provided by HGNC
Primary source
HGNC:HGNC:30083
See related
Ensembl:ENSG00000185774 MIM:608182
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
CALP; KCHIP4
Summary
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 3.7), endometrium (RPKM 1.2) and 15 other tissues See more
Orthologs

Genomic context

See KCNIP4 in Genome Data Viewer
Location:
4p15.31-p15.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (20728520..21948772, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (20730234..21950424, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene slit guidance ligand 2 Neighboring gene microRNA 218-1 Neighboring gene uncharacterized LOC105374515 Neighboring gene parkin coregulated like Neighboring gene uncharacterized LOC105374516 Neighboring gene microRNA 7978 Neighboring gene uncharacterized LOC112268323 Neighboring gene ribosomal protein L31 pseudogene 25 Neighboring gene KCNIP4 intronic transcript 1 Neighboring gene Sharpr-MPRA regulatory region 2159 Neighboring gene RNA, U6 small nuclear 420, pseudogene

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
A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
NHGRI GWA Catalog
Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC44947

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
Kv channel-interacting protein 4
Names
Kv channel interacting protein 4
a-type potassium channel modulatory protein 4
calsenilin-like 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_052969.1 RefSeqGene

    Range
    5001..1225136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001035003.1NP_001030175.1  Kv channel-interacting protein 4 isoform 5

    See identical proteins and their annotated locations for NP_001030175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate exon which contains an in-frame start codon, as compared to variant 1. The encoded isoform (5) thus has an alternate N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC104065, BX648990, DQ148490
    Consensus CDS
    CCDS43217.1
    UniProtKB/Swiss-Prot
    Q6PIL6
    Related
    ENSP00000371583.3, ENST00000382148.7
    Conserved Domains (1) summary
    COG5126
    Location:55214
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001035004.1NP_001030176.1  Kv channel-interacting protein 4 isoform 3

    See identical proteins and their annotated locations for NP_001030176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has an alternate exon which lacks an in-frame start codon, as compared to variant 1. Use of a downstream start codon results in an isoform (3) that has a shorter N-terminus, as compared to isoform 1. Variants 3 and 6 encode the same isoform (3).
    Source sequence(s)
    AC104065, AK290998, BX648990, DQ148491
    Consensus CDS
    CCDS47035.1
    UniProtKB/Swiss-Prot
    Q6PIL6
    UniProtKB/TrEMBL
    A8K4N3
    Related
    ENSP00000423257.1, ENST00000509207.1
    Conserved Domains (1) summary
    COG5126
    Location:18177
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. NM_001363504.1NP_001350433.1  Kv channel-interacting protein 4 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC097505, AC104065, AC109636
    Consensus CDS
    CCDS87210.1
    Conserved Domains (1) summary
    COG5126
    Location:63222
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  4. NM_025221.6NP_079497.2  Kv channel-interacting protein 4 isoform 1

    See identical proteins and their annotated locations for NP_079497.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as KCHIP4.1).
    Source sequence(s)
    AC097505, AC104065, AC113606, AF367023, BC032520, BI596848, BX648990
    Consensus CDS
    CCDS43216.1
    UniProtKB/Swiss-Prot
    Q6PIL6
    Related
    ENSP00000371587.2, ENST00000382152.7
    Conserved Domains (1) summary
    COG5126
    Location:80239
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  5. NM_147181.3NP_671710.1  Kv channel-interacting protein 4 isoform 2

    See identical proteins and their annotated locations for NP_671710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. Isoform 2, also known as KCHIP4.2, is thus missing an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC104065, AF367024, BI596848, BX648990
    Consensus CDS
    CCDS43215.1
    UniProtKB/Swiss-Prot
    Q6PIL6
    Related
    ENSP00000399080.2, ENST00000447367.6
    Conserved Domains (1) summary
    COG5126
    Location:46205
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  6. NM_147182.3NP_671711.1  Kv channel-interacting protein 4 isoform 3

    See identical proteins and their annotated locations for NP_671711.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate exon which lacks an in-frame start codon, as compared to variant 1. Use of a downstream start codon results in an isoform (3, also known as KCHIP4.3) that has a shorter N-terminus, as compared to isoform 1. Variants 3 and 6 encode the same isoform (3).
    Source sequence(s)
    AC104065, AC113606, AY029176, BI596848, BX648990
    Consensus CDS
    CCDS47035.1
    UniProtKB/Swiss-Prot
    Q6PIL6
    Conserved Domains (1) summary
    COG5126
    Location:18177
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  7. NM_147183.3NP_671712.1  Kv channel-interacting protein 4 isoform 4

    See identical proteins and their annotated locations for NP_671712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate exon which contains an in-frame start codon, as compared to variant 1. Isoform 4, also known as KCHIP4.4, thus has an alternate N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC104065, AY118170, BX648990
    Consensus CDS
    CCDS3428.1
    UniProtKB/Swiss-Prot
    Q6PIL6
    Related
    ENSP00000371585.4, ENST00000382150.8
    Conserved Domains (1) summary
    COG5126
    Location:59218
    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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    20728520..21948772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513885.3XP_011512187.1  Kv channel-interacting protein 4 isoform X2

    Conserved Domains (2) summary
    cd00051
    Location:135206
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:138206
    EF-hand_7; EF-hand domain pair
  2. XM_011513887.2XP_011512189.1  Kv channel-interacting protein 4 isoform X3

    See identical proteins and their annotated locations for XP_011512189.1

    Conserved Domains (2) summary
    cd00051
    Location:98169
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:101169
    EF-hand_7; EF-hand domain pair
  3. XM_017008653.1XP_016864142.1  Kv channel-interacting protein 4 isoform X4

    UniProtKB/Swiss-Prot
    Q6PIL6
    Conserved Domains (1) summary
    COG5126
    Location:18177
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187540.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    4291..183531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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