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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
NCAPH regulates gastric cancer progression through DNA damage response.
Title: NCAPH regulates gastric cancer progression through DNA damage response.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25303 (e-PCR)
- UniSTS:88322

RH17440 (e-PCR)
- UniSTS:42236

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 more info	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)

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
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
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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

96335766..96377091

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

E9PHA2
XM_047443837.1 → XP_047299793.1 condensin complex subunit 2 isoform X4

UniProtKB/TrEMBL

B4DRG7

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

96842375..96883701

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K4T8
XM_054341203.1 → XP_054197178.1 condensin complex subunit 2 isoform X2

UniProtKB/TrEMBL

A8K4T8
XM_054341204.1 → XP_054197179.1 condensin complex subunit 2 isoform X3

UniProtKB/TrEMBL

E9PHA2
XM_054341205.1 → XP_054197180.1 condensin complex subunit 2 isoform X4

UniProtKB/TrEMBL

B4DRG7