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    MYLK4 myosin light chain kinase family member 4 [ Homo sapiens (human) ]

    Gene ID: 340156, updated on 2-May-2024

    Summary

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    Official Symbol
    MYLK4provided by HGNC
    Official Full Name
    myosin light chain kinase family member 4provided by HGNC
    Primary source
    HGNC:HGNC:27972
    See related
    Ensembl:ENSG00000145949 AllianceGenome:HGNC:27972
    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
    SgK085
    Summary
    Predicted to enable myosin light chain kinase activity. Predicted to be involved in protein phosphorylation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 1.8), thyroid (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p25.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (2663637..2770376, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2529217..2636238, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2663871..2770610, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene GMDS divergent transcript Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 28 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2423149-2423723 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:2434059-2435258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16827 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:2639651-2640166 Neighboring gene long intergenic non-protein coding RNA 1600 Neighboring gene long intergenic non-protein coding RNA 2521 Neighboring gene NANOG hESC enhancer GRCh37_chr6:2665381-2665947 Neighboring gene uncharacterized LOC124901240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2734004-2734694 Neighboring gene Sharpr-MPRA regulatory region 12436 Neighboring gene Sharpr-MPRA regulatory region 3200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2764192-2765071 Neighboring gene Sharpr-MPRA regulatory region 3960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16831 Neighboring gene uncharacterized LOC124901241 Neighboring gene Sharpr-MPRA regulatory region 6984 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:2798034-2798138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:2802330-2802830 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:2809907-2811106 Neighboring gene WRN helicase interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16832 Neighboring gene serpin family B member 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. MYLK4 promotes tumor progression through the activation of epidermal growth factor receptor signaling in osteosarcoma. Yang M, et al. J Exp Clin Cancer Res, 2021 May 12. PMID 33980265, Free PMC Article
    2. Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations. Hong KW, et al. Genomics Inform, 2013 Sep. PMID 24124408, Free PMC Article
    3. The protein kinase complement of the human genome. Manning G, et al. Science, 2002 Dec 6. PMID 12471243
    4. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. Taipale M, et al. Cell, 2012 Aug 31. PMID 22939624, Free PMC Article
    5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MYLK4 promotes tumor progression through the activation of epidermal growth factor receptor signaling in osteosarcoma.
      Title: MYLK4 promotes tumor progression through the activation of epidermal growth factor receptor signaling in osteosarcoma.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. First identification, named SgK085 and classified as one of four myosin light chain kinases in a comprehensive analysis of protein kinases encoded by the human genome.
      Title: The protein kinase complement of the human genome.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin light chain kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin light chain kinase family member 4
    Names
    caMLCK like
    sugen kinase 85
    NP_001012418.2
    NP_001334801.1
    XP_005249135.2
    XP_006715145.1
    XP_054211291.1
    XP_054211292.1

    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_052793.1 RefSeqGene

      Range
      24409..111694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012418.5 → NP_001012418.2  myosin light chain kinase family member 4 isoform 1

      See identical proteins and their annotated locations for NP_001012418.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AK096893, AK122581, AL138876, BU675945, BX647582
      Consensus CDS
      CCDS34330.1
      UniProtKB/Swiss-Prot
      A2RUC0, Q5TAW2, Q86YV6
      Related
      ENSP00000274643.7, ENST00000274643.9
      Conserved Domains (2) summary
      smart00220
      Location:110 → 361
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14193
      Location:101 → 361
      STKc_MLCK4; Catalytic domain of the Serine/Threonine Kinase, Myosin Light Chain Kinase 4

    2. NM_001347872.2 → NP_001334801.1  myosin light chain kinase family member 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, resulting in a distinct 5' UTR and use of an alternate start codon. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AK122581, AL138876, AL139092, BU675945, BX647582
      Consensus CDS
      CCDS93849.1
      UniProtKB/TrEMBL
      A0A8V8TMV3
      Related
      ENSP00000514016.1, ENST00000698899.1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      2663637..2770376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249078.5 → XP_005249135.2  myosin light chain kinase family member 4 isoform X1

    2. XM_006715082.4 → XP_006715145.1  myosin light chain kinase family member 4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y4U5
      Related
      ENSP00000494309.1, ENST00000647417.1
      Conserved Domains (2) summary
      smart00220
      Location:104 → 355
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14193
      Location:95 → 355
      STKc_MLCK4; Catalytic domain of the Serine/Threonine Kinase, Myosin Light Chain Kinase 4

    RNA

    1. XR_926185.4 RNA Sequence

      Related
      ENST00000698900.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      2529217..2636238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355316.1 → XP_054211291.1  myosin light chain kinase family member 4 isoform X1

    2. XM_054355317.1 → XP_054211292.1  myosin light chain kinase family member 4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y4U5

    RNA

    1. XR_008487327.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YV6.2 GenPept UniProtKB/Swiss-Prot:Q86YV6

    Gene LinkOut

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

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