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

    Gene ID: 80333, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:30083
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4p15.31-p15.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (20728606..21948772, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (20710285..21930631, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (20730229..21950395, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene slit guidance ligand 2 Neighboring gene NANOG hESC enhancer GRCh37_chr4:20590873-20591475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:20618190-20618690 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:20631231-20631937 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:20634775-20635276 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:20635277-20635776 Neighboring gene microRNA 218-1 Neighboring gene uncharacterized LOC105374515 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:20675647-20675822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21365 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_77676 Neighboring gene parkin coregulated like Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_77702 Neighboring gene Sharpr-MPRA regulatory region 6369 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_77709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:21305572-21306072 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:21367838-21368378 Neighboring gene uncharacterized LOC124900677 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:21544835-21545753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_77794 Neighboring gene uncharacterized LOC105374516 Neighboring gene microRNA 7978 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_77821 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_77853 Neighboring gene ribosomal protein L31 pseudogene 25 Neighboring gene KCNIP4 intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:21950342-21950842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:21950843-21951343 Neighboring gene RNA, U6 small nuclear 420, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:22205027-22206226 Neighboring gene Sharpr-MPRA regulatory region 2159 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:22269927-22271126 Neighboring gene uncharacterized LOC100505912

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC44947

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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
      4980..1225146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001035003.2NP_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)
      AC096576, AC104065, BX648990, DQ148490
      Consensus CDS
      CCDS43217.1
      UniProtKB/TrEMBL
      A8K0U6
      Related
      ENSP00000371583.3, ENST00000382148.7
      Conserved Domains (1) summary
      COG5126
      Location:55214
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    2. NM_001035004.2NP_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)
      AC096576, AC104065, AK290998, BX648990, DQ148491
      Consensus CDS
      CCDS47035.1
      UniProtKB/TrEMBL
      A8K0U6
      Related
      ENSP00000423257.1, ENST00000509207.1
      Conserved Domains (1) summary
      COG5126
      Location:18177
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    3. NM_001363504.2NP_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
      UniProtKB/TrEMBL
      A8K4N3, Q3YAB7
      Related
      ENSP00000494651.1, ENST00000382149.9
      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
      Q3YAB8, Q3YAB9, Q3YAC0, Q3YAC1, Q3YAC2, Q4W5G8, Q6PIL6, Q8NEU0, Q9BWT2, Q9H294, Q9H2A4
      UniProtKB/TrEMBL
      A8K0U6
      Related
      ENSP00000371587.2, ENST00000382152.7
      Conserved Domains (1) summary
      COG5126
      Location:80239
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    5. NM_147181.4NP_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, AC113606, AF367024, BI596848, BX648990
      Consensus CDS
      CCDS43215.1
      UniProtKB/TrEMBL
      A8K0U6
      Related
      ENSP00000399080.2, ENST00000447367.6
      Conserved Domains (1) summary
      COG5126
      Location:46205
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    6. NM_147182.4NP_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/TrEMBL
      A8K0U6
      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/TrEMBL
      A8K4N3
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      20728606..21948772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513885.4XP_011512187.1  Kv channel-interacting protein 4 isoform X1

      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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187540.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      4291..183576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      20710285..21930631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350900.1XP_054206875.1  Kv channel-interacting protein 4 isoform X1