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    NCAPD3 non-SMC condensin II complex subunit D3 [ Homo sapiens (human) ]

    Gene ID: 23310, updated on 28-Oct-2024

    Summary

    Official Symbol
    NCAPD3provided by HGNC
    Official Full Name
    non-SMC condensin II complex subunit D3provided by HGNC
    Primary source
    HGNC:HGNC:28952
    See related
    Ensembl:ENSG00000151503 MIM:609276; AllianceGenome:HGNC:28952
    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
    CAPD3; hcp-6; CAP-D3; MCPH22; hHCP-6; hCAP-D3
    Summary
    Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in prostate (RPKM 42.0), bone marrow (RPKM 7.1) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NCAPD3 in Genome Data Viewer
    Location:
    11q25
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134150113..134225461, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134192253..134267300, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134020008..134095355, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902797 Neighboring gene junctional adhesion molecule 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133994434-133994972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133994973-133995509 Neighboring gene PTP4A2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134027645-134028146 Neighboring gene small nucleolar RNA, C/D box 153 Neighboring gene zinc finger protein 628 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:134045931-134047130 Neighboring gene MPRA-validated peak1520 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4093 Neighboring gene MPRA-validated peak1521 silencer Neighboring gene MPRA-validated peak1522 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5770 Neighboring gene VPS26 retromer complex component B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4096 Neighboring gene thymocyte nuclear protein 1 Neighboring gene acyl-CoA dehydrogenase family member 8

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microcephaly 22, primary, autosomal recessive
    MedGen: C4693834 OMIM: 617984 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with non-SMC condensin II complex, subunit D3 (NCAPD3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42888, KIAA0056, MGC104671

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    involved_in meiotic chromosome condensation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic chromosome condensation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic chromosome condensation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic chromosome condensation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chromosome condensation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of chromosome separation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in condensed chromosome, centromeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in condensed nuclear chromosome ISO
    Inferred from Sequence Orthology
    more info
     
    part_of condensin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of condensin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of condensin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in pericentric heterochromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    condensin-2 complex subunit D3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001372065.1NP_001358994.1  condensin-2 complex subunit D3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP001775
      Conserved Domains (2) summary
      sd00044
      Location:542571
      HEAT; HEAT repeat [structural motif]
      pfam12717
      Location:9561120
      Cnd1; non-SMC mitotic condensation complex subunit 1
    2. NM_001372068.1NP_001358997.1  condensin-2 complex subunit D3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP001775
      Consensus CDS
      CCDS91627.1
      UniProtKB/TrEMBL
      A0A8I5KT00
      Related
      ENSP00000510008.1, ENST00000688263.1
      Conserved Domains (2) summary
      sd00044
      Location:542571
      HEAT; HEAT repeat [structural motif]
      pfam12717
      Location:9561120
      Cnd1; non-SMC mitotic condensation complex subunit 1
    3. NM_001372069.1NP_001358998.1  condensin-2 complex subunit D3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP001775
      Conserved Domains (2) summary
      sd00044
      Location:404433
      HEAT; HEAT repeat [structural motif]
      pfam12717
      Location:818982
      Cnd1; non-SMC mitotic condensation complex subunit 1
    4. NM_001372070.1NP_001358999.1  condensin-2 complex subunit D3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP000859, AP001775
      Conserved Domains (2) summary
      sd00044
      Location:404433
      HEAT; HEAT repeat [structural motif]
      pfam12717
      Location:818982
      Cnd1; non-SMC mitotic condensation complex subunit 1
    5. NM_015261.3NP_056076.1  condensin-2 complex subunit D3 isoform 1

      See identical proteins and their annotated locations for NP_056076.1

      Status: VALIDATED

      Source sequence(s)
      AP001775
      Consensus CDS
      CCDS31723.1
      UniProtKB/Swiss-Prot
      A6NFS2, P42695, Q4KMQ9
      Related
      ENSP00000433681.3, ENST00000534548.7
      Conserved Domains (2) summary
      sd00044
      Location:542571
      HEAT; HEAT repeat [structural motif]
      pfam12717
      Location:9561120
      Cnd1; non-SMC mitotic condensation complex subunit 1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      134150113..134225461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      134192253..134267300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)