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    NCAPH non-SMC condensin I complex subunit H [ Homo sapiens (human) ]

    Gene ID: 23397, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NCAPHprovided by HGNC
    Official Full Name
    non-SMC condensin I complex subunit Hprovided by HGNC
    Primary source
    HGNC:HGNC:1112
    See related
    Ensembl:ENSG00000121152 MIM:602332; AllianceGenome:HGNC:1112
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAPH; BRRN1; CAP-H; MCPH23; NCAPH1
    Summary
    This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in testis (RPKM 8.6), bone marrow (RPKM 4.4) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NCAPH in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96335766..96377091)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96842375..96883701)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97001504..97042829)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:96944520-96945719 Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene Sharpr-MPRA regulatory region 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:96972365-96972993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96991242-96991742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97000977-97001818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97001819-97002660 Neighboring gene ITPRIP like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97087565-97088066 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:97093193-97094392 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:97128139-97128886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97151159-97151851 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:97158713-97159372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97162590-97163590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97163591-97164590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11767 Neighboring gene neuralized E3 ubiquitin protein ligase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97190085-97190604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11769 Neighboring gene uncharacterized LOC105373496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97196747-97197538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97197539-97198328

    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. MiR-1976/NCAPH/P65 axis inhibits the malignant phenotypes of lung adenocarcinoma.
      Title: MiR-1976/NCAPH/P65 axis inhibits the malignant phenotypes of lung adenocarcinoma.
    2. Non-SMC condensin I complex subunit H participates in anti-programmed cell death-1 resistance of clear cell renal cell carcinomas.
      Title: Non-SMC condensin I complex subunit H participates in anti-programmed cell death-1 resistance of clear cell renal cell carcinomas.
    3. An integrative pan-cancer analysis reveals the carcinogenic effects of NCAPH in human cancer.
      Title: An integrative pan-cancer analysis reveals the carcinogenic effects of NCAPH in human cancer.
    4. NCAPH Stabilizes GEN1 in Chromatin to Resolve Ultra-Fine DNA Bridges and Maintain Chromosome Stability.
      Title: NCAPH Stabilizes GEN1 in Chromatin to Resolve Ultra-Fine DNA Bridges and Maintain Chromosome Stability.
    5. NCAPH is a prognostic biomarker and associated with immune infiltrates in lung adenocarcinoma.
      Title: NCAPH is a prognostic biomarker and associated with immune infiltrates in lung adenocarcinoma.
    6. NCAPH promotes cell proliferation and inhibits cell apoptosis of bladder cancer cells through MEK/ERK signaling pathway.
      Title: NCAPH promotes cell proliferation and inhibits cell apoptosis of bladder cancer cells through MEK/ERK signaling pathway.
    7. NCAPH regulates gastric cancer progression through DNA damage response.
      Title: NCAPH regulates gastric cancer progression through DNA damage response.
    8. miR-133b targets NCAPH to promote beta-catenin degradation and reduce cancer stem cell maintenance in non-small cell lung cancer.
      Title: miR-133b targets NCAPH to promote β-catenin degradation and reduce cancer stem cell maintenance in non-small cell lung cancer.
    9. NCAPH is upregulated in endometrial cancer and associated with poor clinicopathologic characteristics.
      Title: NCAPH is upregulated in endometrial cancer and associated with poor clinicopathologic characteristics.
    10. Identification of NCAPH as a biomarker for prognosis of breast cancer.
      Title: Identification of NCAPH as a biomarker for prognosis of breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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

    Associated conditions

    Description Tests
    Microcephaly 23, primary, autosomal recessive
    MedGen: C4693843 OMIM: 617985 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of HIV-1 Tat with CAPH in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry PubMed

    Go to the HIV-1, Human Interaction Database

    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 chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    involved_in female meiosis chromosome separation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic chromosome condensation IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    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 cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    condensin complex subunit 2
    Names
    barren homolog 1
    chromosome-associated protein H

    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_001281710.2 → NP_001268639.1  condensin complex subunit 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC021188, AK308050, D38553
      UniProtKB/TrEMBL
      E9PHA2
      Related
      ENSP00000405237.1, ENST00000435975.5
      Conserved Domains (1) summary
      pfam05786
      Location:44 → 727
      Cnd2; Condensin complex subunit 2

    2. NM_001281711.2 → NP_001268640.1  condensin complex subunit 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC021188, AK299248, D38553
      UniProtKB/TrEMBL
      B4DRG7
      Conserved Domains (1) summary
      pfam05786
      Location:31 → 714
      Cnd2; Condensin complex subunit 2

    3. NM_001281712.2 → NP_001268641.1  condensin complex subunit 2 isoform 4

      See identical proteins and their annotated locations for NP_001268641.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the coding region and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC021188, AK303725
      Consensus CDS
      CCDS62960.1
      UniProtKB/TrEMBL
      B4DRG7
      Related
      ENSP00000400774.1, ENST00000427946.5
      Conserved Domains (1) summary
      pfam05786
      Location:1 → 602
      Cnd2; Condensin complex subunit 2

    4. NM_015341.5 → NP_056156.2  condensin complex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_056156.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC021188, D38553
      Consensus CDS
      CCDS2021.1
      UniProtKB/Swiss-Prot
      B4E189, Q15003, Q8TB87
      UniProtKB/TrEMBL
      A8K4T8
      Related
      ENSP00000240423.4, ENST00000240423.9
      Conserved Domains (1) summary
      pfam05786
      Location:55 → 739
      Cnd2; Condensin complex subunit 2

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96335766..96377091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263908.5 → XP_005263965.1  condensin complex subunit 2 isoform X1

      UniProtKB/TrEMBL
      A8K4T8
      Conserved Domains (1) summary
      pfam05786
      Location:55 → 722
      Cnd2; Condensin complex subunit 2

    2. XM_006712388.5 → XP_006712451.1  condensin complex subunit 2 isoform X2

      UniProtKB/TrEMBL
      A8K4T8
      Conserved Domains (1) summary
      pfam05786
      Location:55 → 707
      Cnd2; Condensin complex subunit 2

    3. XM_047443836.1 → XP_047299792.1  condensin complex subunit 2 isoform X3

    4. XM_047443837.1 → XP_047299793.1  condensin complex subunit 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96842375..96883701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341202.1 → XP_054197177.1  condensin complex subunit 2 isoform X1

    2. XM_054341203.1 → XP_054197178.1  condensin complex subunit 2 isoform X2

    3. XM_054341204.1 → XP_054197179.1  condensin complex subunit 2 isoform X3

    4. XM_054341205.1 → XP_054197180.1  condensin complex subunit 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15003.3 GenPept UniProtKB/Swiss-Prot:Q15003

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