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    MIS18BP1 MIS18 binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 55320, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MIS18BP1provided by HGNC
    Official Full Name
    MIS18 binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:20190
    See related
    Ensembl:ENSG00000129534 MIM:618139; AllianceGenome:HGNC:20190
    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
    KNL2; M18BP1; C14orf106; HSA242977
    Summary
    Predicted to enable DNA binding activity. Predicted to be involved in cell division. Predicted to be located in nucleoplasm. Predicted to be part of CENP-A recruiting complex. Predicted to be active in chromosome, centromeric region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 16.3), lymph node (RPKM 12.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIS18BP1 in Genome Data Viewer
    Location:
    14q21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (45203190..45253202, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (39395200..39445212, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (45672393..45722405, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 39 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:45602882-45603753 and GRCh37_chr14:45603754-45604624 Neighboring gene FKBP prolyl isomerase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8301 Neighboring gene FA complementation group M Neighboring gene NANOG hESC enhancer GRCh37_chr14:45667610-45668129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:45720005-45720504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8303 Neighboring gene uncharacterized LOC107984674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:45722623-45723572 Neighboring gene RNA, U6 small nuclear 552, pseudogene

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results confirm the regulation of MIS18BP1 via SUMO-ubiquitin crosstalk during mitosis.
      Title: Converging Small Ubiquitin-like Modifier (SUMO) and Ubiquitin Signaling: Improved Methodology Identifies Co-modified Target Proteins.
    2. The authors demonstrate that CDK1 controls Mis18 complex recruitment to centromeres by regulating oligomerization of M18BP1 through the Mis18alpha:Mis18beta scaffold.
      Title: CDK-regulated dimerization of M18BP1 on a Mis18 hexamer is necessary for CENP-A loading.
    3. CENP-C works as an important factor for centromeric M18BP1 recruitment
      Title: CENP-C facilitates the recruitment of M18BP1 to centromeric chromatin.
    4. Three human proteins essential for centromere/kinetochore structure and function, hMis18alpha, hMis18beta, and M18BP1, the complex of which is accumulated specifically at the telophase-G1 centromere, are identified.[Mis18alpha, Mis18beta, M18BP1]
      Title: Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1.
    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)

    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

    Clone Names

    • FLJ11186, KIAA1903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in chromosome, centromeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    mis18-binding protein 1
    Names
    P243
    hsKNL-2
    kinetochore null 2 homolog
    kinetochore-associated protein KNL-2 homolog
    putative protein p243 which interacts with transcription factor Sp1

    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_018353.5 → NP_060823.3  mis18-binding protein 1

      See identical proteins and their annotated locations for NP_060823.3

      Status: VALIDATED

      Source sequence(s)
      AB067490, AW971491, BC065544
      Consensus CDS
      CCDS9684.1
      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9
      Related
      ENSP00000309790.4, ENST00000310806.9
      Conserved Domains (2) summary
      cd00167
      Location:879 → 925
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam09133
      Location:383 → 470
      SANTA; SANTA (SANT Associated)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      45203190..45253202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267833.6 → XP_005267890.1  mis18-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005267890.1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9
      Conserved Domains (2) summary
      cd00167
      Location:879 → 925
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam09133
      Location:383 → 470
      SANTA; SANTA (SANT Associated)

    2. XM_047431546.1 → XP_047287502.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9

    3. XM_047431545.1 → XP_047287501.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9

    4. XM_017021425.2 → XP_016876914.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9
      Conserved Domains (2) summary
      cd00167
      Location:879 → 925
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam09133
      Location:383 → 470
      SANTA; SANTA (SANT Associated)

    5. XM_011536923.1 → XP_011535225.1  mis18-binding protein 1 isoform X3

      Conserved Domains (3) summary
      smart00717
      Location:490 → 539
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:491 → 537
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam09133
      Location:1 → 84
      SANTA; SANTA (SANT Associated)

    6. XM_047431548.1 → XP_047287504.1  mis18-binding protein 1 isoform X4

    7. XM_047431547.1 → XP_047287503.1  mis18-binding protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      39395200..39445212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376320.1 → XP_054232295.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9

    2. XM_054376323.1 → XP_054232298.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9

    3. XM_054376322.1 → XP_054232297.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9

    4. XM_054376321.1 → XP_054232296.1  mis18-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DSA7, Q6P0N0, Q86V14, Q96PY4, Q9NUR5, Q9Y4X9

    5. XM_054376325.1 → XP_054232300.1  mis18-binding protein 1 isoform X3

    6. XM_054376326.1 → XP_054232301.1  mis18-binding protein 1 isoform X4

    7. XM_054376324.1 → XP_054232299.1  mis18-binding protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P0N0.1 GenPept UniProtKB/Swiss-Prot:Q6P0N0

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