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

Gene ID: 55320, updated on 2-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
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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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Related articles in PubMed

  1. Functional genomics identifies a Myb domain-containing protein family required for assembly of CENP-A chromatin. Maddox PS, et al. J Cell Biol, 2007 Mar 12. PMID 17339379, Free PMC Article
  2. Converging Small Ubiquitin-like Modifier (SUMO) and Ubiquitin Signaling: Improved Methodology Identifies Co-modified Target Proteins. Cuijpers SAG, et al. Mol Cell Proteomics, 2017 Dec. PMID 28951443, Free PMC Article
  3. CENP-C facilitates the recruitment of M18BP1 to centromeric chromatin. Dambacher S, et al. Nucleus, 2012 Jan-Feb. PMID 22540025, Free PMC Article
  4. CDK-regulated dimerization of M18BP1 on a Mis18 hexamer is necessary for CENP-A loading. Pan D, et al. Elife, 2017 Jan 6. PMID 28059702, Free PMC Article
  5. Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. Fujita Y, et al. Dev Cell, 2007 Jan. PMID 17199038

See all (49) citations in PubMed

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)

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

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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