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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
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Genomic context

See KCNIP4 in Genome Data Viewer
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)

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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