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

    Gene ID: 163782, updated on 27-May-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
    mouse all
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    Genomic context

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    See KANK4 in Genome Data Viewer
    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, Free PMC Article
    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. Exclusive expression of KANK4 promotes myofibroblast mobility in keloid tissues.
      Title: Exclusive expression of KANK4 promotes myofibroblast mobility in keloid tissues.
    2. 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.
    3. 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.
    4. 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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