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

Gene ID: 23397, updated on 21-Mar-2023

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
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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96335766..96377091)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96842375..96883701)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97001504..97042829)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene Sharpr-MPRA regulatory region 61 Neighboring gene ITPRIP like 1 Neighboring gene neuralized E3 ubiquitin protein ligase 3 Neighboring gene uncharacterized LOC105373496

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. An integrative pan-cancer analysis reveals the carcinogenic effects of NCAPH in human cancer. Liu Y, et al. Math Biosci Eng, 2023 Jan. PMID 36650758
  2. NCAPH is a prognostic biomarker and associated with immune infiltrates in lung adenocarcinoma. Li C, et al. Sci Rep, 2022 Jun 10. PMID 35688915, Free PMC Article
  3. NCAPH promotes cell proliferation and inhibits cell apoptosis of bladder cancer cells through MEK/ERK signaling pathway. Li B, et al. Cell Cycle, 2022 Feb. PMID 34974790, Free PMC Article
  4. NCAPH regulates gastric cancer progression through DNA damage response. Wang Y, et al. Neoplasma, 2022 Mar. PMID 34962823
  5. HPV E7-mediated NCAPH ectopic expression regulates the carcinogenesis of cervical carcinoma via PI3K/AKT/SGK pathway. Wang M, et al. Cell Death Dis, 2020 Dec 11. PMID 33311486, Free PMC Article

See all (91) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. NCAPH regulates gastric cancer progression through DNA damage response.
    Title: NCAPH regulates gastric cancer progression through DNA damage response.
  6. 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.
  7. 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.
  8. Identification of NCAPH as a biomarker for prognosis of breast cancer.
    Title: Identification of NCAPH as a biomarker for prognosis of breast cancer.
  9. NCAPH is negatively associated with Mcl1 in nonsmall cell lung cancer.
    Title: NCAPH is negatively associated with Mcl‑1 in non‑small cell lung cancer.
  10. HPV E7-mediated NCAPH ectopic expression regulates the carcinogenesis of cervical carcinoma via PI3K/AKT/SGK pathway.
    Title: HPV E7-mediated NCAPH ectopic expression regulates the carcinogenesis of cervical carcinoma via PI3K/AKT/SGK pathway.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
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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

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
 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 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
 PubMed 
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 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/Swiss-Prot
    Q15003
    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/Swiss-Prot
    Q15003
    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/Swiss-Prot
    Q15003
    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
    Q15003, Q8TB87
    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_2023_03

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

    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

    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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