CENPI centromere protein I [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPIprovided by HGNC
Official Full Name: centromere protein Iprovided by HGNC
Primary source: HGNC:HGNC:3968
See related: Ensembl:ENSG00000102384 MIM:300065; AllianceGenome:HGNC:3968
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: LRPR1; CENP-I; FSHPRH1
Summary: This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]
Expression: Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (101098204..101181859)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99541564..99625927)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (100353193..100421115)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Immune infiltration related CENPI associates with the malignant features and drug resistance of lung adenocarcinoma.
Title: Immune infiltration related CENPI associates with the malignant features and drug resistance of lung adenocarcinoma.
Centromere Protein I (CENP-I) Is Upregulated in Gastric Cancer, Predicts Poor Prognosis, and Promotes Tumor Cell Proliferation and Migration.
Title: Centromere Protein I (CENP-I) Is Upregulated in Gastric Cancer, Predicts Poor Prognosis, and Promotes Tumor Cell Proliferation and Migration.
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
Title: Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
CENPI is overexpressed in colorectal cancer (CRC) and functions as oncogene in modulating CRC cell migration, invasion and epithelial-mesenchymal transition process.
Title: CENPI is overexpressed in colorectal cancer and regulates cell migration and invasion.
CENP-C and CENP-I are key factors connecting kinetochore to CENP-A assembly.
Title: CENP-C and CENP-I are key connecting factors for kinetochore and CENP-A assembly.
mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.
Title: Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
We conclude that the dual activities of Aurora B and CENP-I generate a molecular switch that maintains a robust spindle checkpoint signal at prometaphase kinetochores until they attain mature attachments to microtubules.
Title: CENP-I and Aurora B act as a molecular switch that ties RZZ/Mad1 recruitment to kinetochore attachment status.
demonstrates that CENPI, a centromere protein that localizes to the inner kinetochore structure, is a human autoantigen. The significance of anti-CENPI autoantibodies could be relevant in scleroderma patients as a marker for autoimmune liver disease
Title: Anti-CENPI autoantibodies in scleroderma patients with features of autoimmune liver diseases.
the vertebrate KNL1 counterpart is essential for chromosome segregation and is required to localize a subset of outer kinetochore proteins.
Title: KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates.
The CENP-H-I complex may function, in part, as a marker directing CENP-A deposition to centromeres.
Title: The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS1257 (e-PCR)
- UniSTS:98922

D1S1425 (e-PCR)
- UniSTS:149621

D6S1615 (e-PCR)
- UniSTS:67967

D6S1615 (e-PCR)
- UniSTS:480396

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in CENP-A containing chromatin assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic sister chromatid segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in sex differentiation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of inner kinetochore	IBA Inferred from Biological aspect of Ancestor more info
part_of inner kinetochore	IPI Inferred from Physical Interaction more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: centromere protein I

Names: FSH primary response 1; follicle-stimulating hormone primary response protein; interphase centromere complex protein 19; leucine-rich primary response protein 1

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.

Genomic

NG_012510.2 RefSeqGene

Range

5002..72924

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318521.2 → NP_001305450.1 centromere protein I isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1,

Source sequence(s)

AK302986, AL109963, BF204027

Consensus CDS

CCDS94639.1

UniProtKB/TrEMBL

A0A8C8KX99, B4DZL4

Related

ENSP00000399274.2, ENST00000423383.3

Conserved Domains (1) summary

pfam07778
Location:12 → 521

CENP-I; Mis6
NM_001318523.1 → NP_001305452.1 centromere protein I isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has a shorter 5' UTR, lacks several 3' exon and has a terminal exon that extends past a splice site used in variant 1. The encoded isoform (3) has a shorter C-terminus compared to isoform 1.

Source sequence(s)

BC012462

Consensus CDS

CCDS83482.1

UniProtKB/Swiss-Prot

Q92674

Related

ENSP00000362017.1, ENST00000372926.5

Conserved Domains (1) summary

pfam07778
Location:12 → 521

CENP-I; Mis6
NM_001386188.2 → NP_001373117.1 centromere protein I isoform 1

Status: REVIEWED

Source sequence(s)

AL109963

Consensus CDS

CCDS14479.1

UniProtKB/Swiss-Prot

Q5JWZ9, Q92674, Q96ED0

UniProtKB/TrEMBL

B4DZL4

Related

ENSP00000507927.1, ENST00000682095.1

Conserved Domains (1) summary

pfam07778
Location:12 → 521

CENP-I; Mis6
NM_006733.3 → NP_006724.2 centromere protein I isoform 1

See identical proteins and their annotated locations for NP_006724.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL109963, BF204027, X97249

Consensus CDS

CCDS14479.1

UniProtKB/Swiss-Prot

Q5JWZ9, Q92674, Q96ED0

UniProtKB/TrEMBL

B4DZL4

Related

ENSP00000507595.1, ENST00000684367.1

Conserved Domains (1) summary

pfam07778
Location:12 → 521

CENP-I; Mis6