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KANK4 KN motif and ankyrin repeat domains 4 [ Homo sapiens (human) ]

Gene ID: 163782, updated on 5-Mar-2024

Summary

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Official Symbol
KANK4provided by HGNC
Official Full Name
KN motif and ankyrin repeat domains 4provided by HGNC
Primary source
HGNC:HGNC:27263
See related
Ensembl:ENSG00000132854 MIM:614612; AllianceGenome:HGNC:27263
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANKRD38; dJ1078M7.1
Summary
Predicted to be involved in negative regulation of actin filament polymerization. Located in cytosol and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in fat (RPKM 7.4), placenta (RPKM 5.9) and 10 other tissues See more
Orthologs
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Genomic context

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Location:
1p31.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62236165..62319434, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (62114742..62197930, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62701837..62785105, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62659664-62660520 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62660521-62661376 Neighboring gene ribosomal protein S15a pseudogene 7 Neighboring gene LINE1 type transposase domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:62698440-62698940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:62698941-62699441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62733748-62734248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62774147-62774833 Neighboring gene RNA, U6 small nuclear 371, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62783698-62784422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62784423-62785145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62802114-62802779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62816983-62817483 Neighboring gene Sharpr-MPRA regulatory region 10636 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:62866517-62867293 Neighboring gene uncharacterized LOC105378768 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62901187-62901954 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62901955-62902722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1118 Neighboring gene ubiquitin specific peptidase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Genome-wide profiling of adult human papillary and reticular fibroblasts identifies ACAN, Col XI α1, and PSG1 as general biomarkers of dermis ageing, and KANK4 as an exemplary effector of papillary fibroblast ageing, related to contractility. Haydont V, et al. Mech Ageing Dev, 2019 Jan. PMID 29913199
  2. Kank proteins: structure, functions and diseases. Kakinuma N, et al. Cell Mol Life Sci, 2009 Aug. PMID 19554261
  3. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. Zhu Y, et al. Biochim Biophys Acta, 2008 Feb. PMID 17996375
  4. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. Gee HY, et al. J Clin Invest, 2015 Jun. PMID 25961457, Free PMC Article
  5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion.
    Title: DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion.
  2. biomarkers suitable for the assessment of chronological ageing were identified, and extrapolated to the context of photo-damaged skin. In particular, KANK4, ACAN, Col XI alpha1, and PSG1, were expressed at an increased level in both chronologically-aged and photo-damaged skin.
    Title: Genome-wide profiling of adult human papillary and reticular fibroblasts identifies ACAN, Col XI α1, and PSG1 as general biomarkers of dermis ageing, and KANK4 as an exemplary effector of papillary fibroblast ageing, related to contractility.
  3. identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome.
    Title: KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10884, KIAA0172

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
KN motif and ankyrin repeat domain-containing protein 4
Names
ankyrin repeat domain 38
ankyrin repeat domain-containing protein 38
kidney ankyrin repeat-containing protein 4

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.

mRNA and Protein(s)

  1. NM_001320269.2 → NP_001307198.1  KN motif and ankyrin repeat domain-containing protein 4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (2) lacks an internal segment and is shorter compared to isoform 1.
    Source sequence(s)
    AK091941, AL139343, AL162739, BU738703, CB989254, CN314410
    Consensus CDS
    CCDS81334.1
    UniProtKB/Swiss-Prot
    Q5T7N3
    Related
    ENSP00000346352.3, ENST00000354381.3
    Conserved Domains (4) summary
    cd00204
    Location:190 → 321
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:200 → 298
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:287 → 342
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:195 → 227
    ANK; ANK repeat [structural motif]

  2. NM_181712.5 → NP_859063.3  KN motif and ankyrin repeat domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_859063.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL139343, AL162739, BC060866
    Consensus CDS
    CCDS620.1
    UniProtKB/Swiss-Prot
    B1ALP7, Q5T7N3, Q6P9A0, Q86T71, Q86VE6, Q8NAX3
    Related
    ENSP00000360195.4, ENST00000371153.9
    Conserved Domains (6) summary
    cd00204
    Location:818 → 949
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam06005
    Location:342 → 387
    DUF904; Protein of unknown function (DUF904)
    pfam12075
    Location:24 → 62
    KN_motif; KN motif
    pfam12796
    Location:828 → 926
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:915 → 970
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:823 → 855
    ANK; ANK repeat [structural motif]

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    62236165..62319434 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540845.4 → XP_011539147.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X2

    Conserved Domains (6) summary
    cd00204
    Location:818 → 959
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12075
    Location:24 → 62
    KN_motif; KN motif
    pfam12796
    Location:828 → 929
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:905 → 959
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:823 → 869
    ANK; ANK repeat [structural motif]
    cl23720
    Location:341 → 404
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. XM_017000483.3 → XP_016855972.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X3

  3. XM_017000484.3 → XP_016855973.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X4

    UniProtKB/Swiss-Prot
    Q5T7N3
    Conserved Domains (4) summary
    cd00204
    Location:190 → 321
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:200 → 298
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:287 → 342
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:195 → 227
    ANK; ANK repeat [structural motif]

  4. XM_047447839.1 → XP_047303795.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B1ALP7, Q5T7N3, Q6P9A0, Q86T71, Q86VE6, Q8NAX3

  5. XM_047447850.1 → XP_047303806.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B1ALP7, Q5T7N3, Q6P9A0, Q86T71, Q86VE6, Q8NAX3

  6. XM_047447840.1 → XP_047303796.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    B1ALP7, Q5T7N3, Q6P9A0, Q86T71, Q86VE6, Q8NAX3

  7. XM_017000485.3 → XP_016855974.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X5

    UniProtKB/TrEMBL
    B1ALP6
    Related
    ENSP00000360192.1, ENST00000371150.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    62114742..62197930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334746.1 → XP_054190721.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X2

  2. XM_054334747.1 → XP_054190722.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X3

  3. XM_054334748.1 → XP_054190723.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X4

  4. XM_054334743.1 → XP_054190718.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X1

    UniProtKB/TrEMBL
    B0I1P6

  5. XM_054334745.1 → XP_054190720.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X1

    UniProtKB/TrEMBL
    B0I1P6

  6. XM_054334744.1 → XP_054190719.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X1

    UniProtKB/TrEMBL
    B0I1P6

  7. XM_054334749.1 → XP_054190724.1  KN motif and ankyrin repeat domain-containing protein 4 isoform X5

    UniProtKB/TrEMBL
    B3KXJ6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T7N3.1 GenPept UniProtKB/Swiss-Prot:Q5T7N3

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