CENPJ centromere protein J [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPJprovided by HGNC
Official Full Name: centromere protein Jprovided by HGNC
Primary source: HGNC:HGNC:17272
See related: Ensembl:ENSG00000151849 MIM:609279; AllianceGenome:HGNC:17272
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: LAP; CPAP; LIP1; BM032; MCPH6; SASS4; SCKL4; Sas-4; CENP-J
Summary: This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
Expression: Broad expression in testis (RPKM 7.3), thyroid (RPKM 2.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.12-q12.13

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (24882279..24934000, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (24090519..24142252, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (25456417..25496999, complement)

Chromosome 13 - NC_000013.11 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
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?

Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.
Title: Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.
A genome-wide CRISPR-Cas9 screen identifies CENPJ as a host regulator of altered microtubule organization during Plasmodium liver infection.
Title: A genome-wide CRISPR-Cas9 screen identifies CENPJ as a host regulator of altered microtubule organization during Plasmodium liver infection.
CPAP insufficiency leads to incomplete centrioles that duplicate but fragment.
Title: CPAP insufficiency leads to incomplete centrioles that duplicate but fragment.
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Title: Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Centrosomal P4.1-associated protein (CPAP) positively regulates endocytic vesicular transport and lysosome targeting of EGFR.
Title: Centrosomal P4.1-associated protein (CPAP) positively regulates endocytic vesicular transport and lysosome targeting of EGFR.
CPAP promotes angiogenesis and metastasis by enhancing STAT3 activity.
Title: CPAP promotes angiogenesis and metastasis by enhancing STAT3 activity.
CPAP regulates delivery of its bound beta-tubulin to define the size of microtubule-based cellular structures using a "clutch-like" mechanism.
Title: Molecular basis for CPAP-tubulin interaction in controlling centriolar and ciliary length.
Data suggest that alcohol/ethanol exposure diminishes pool of proliferative neurons (Neuro2a cell line) through disordering of spindle orientation and promotion of asymmetric cell division; these neuronal abnormalities appear to be due to reduced CENPJ protein expression level.
Title: Alcohol inhibits the proliferation of Neuro2a cells via promoting the asymmetric cell division through down-regulation of the expression of centrosome protein-J.
CPAP-S467D protein has a low affinity for microtubule binding but a high affinity for pericentriolar material proteins.
Title: Phosphorylation of CPAP by Aurora-A Maintains Spindle Pole Integrity during Mitosis.
CPAP promotes timely cilium disassembly to maintain neural progenitor pool. CPAP mutation causes Seckel syndrome with microcephaly.
Title: CPAP promotes timely cilium disassembly to maintain neural progenitor pool.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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 6, primary, autosomal recessive MedGen: C1842109 OMIM: 608393 GeneReviews: Not available	Compare labs
Seckel syndrome 4 MedGen: C3888212 OMIM: 613676 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Clone Names

MGC131581, MGC131582, MGC142222, MGC142224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gamma-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within astral microtubule nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in cell division	NAS Non-traceable Author Statement more info	PubMed
involved_in centriole elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in centriole elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule nucleation	TAS Traceable Author Statement more info	PubMed
involved_in microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of centriole elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of centriole replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of spindle assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic spindle organization	NAS Non-traceable Author Statement more info	PubMed
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of gamma-tubulin small complex	NAS Non-traceable Author Statement more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
part_of procentriole replication complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: centromere protein J

Names: LAG-3-associated protein; LYST-interacting protein 1; LYST-interacting protein LIP1; LYST-interacting protein LIP7; Spindle assembly abnormal 4; centrosomal P4.1-associated protein

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_009165.3 RefSeqGene

Range

23681..64263

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018451.5 → NP_060921.3 centromere protein J

See identical proteins and their annotated locations for NP_060921.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein coding transcript.

Source sequence(s)

AL354798

Consensus CDS

CCDS9310.1

UniProtKB/Swiss-Prot

Q2KHM6, Q5JPD5, Q5T6R5, Q96KS5, Q9C067, Q9HC77

UniProtKB/TrEMBL

A8K8P1

Related

ENSP00000371308.4, ENST00000381884.9

Conserved Domains (2) summary

pfam07202
Location:1161 → 1335

Tcp10_C; T-complex protein 10 C-terminus

pfam10211
Location:921 → 1012

Ax_dynein_light; Axonemal dynein light chain

RNA

NR_047594.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL354798
NR_047595.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL354798

Related

ENST00000616936.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

24882279..24934000 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430483.1 → XP_047286439.1 centromere protein J isoform X1

UniProtKB/Swiss-Prot

Q2KHM6, Q5JPD5, Q5T6R5, Q96KS5, Q9C067, Q9HC77
XM_011535149.3 → XP_011533451.1 centromere protein J isoform X2

UniProtKB/TrEMBL

F6VUX8, Q2KHM5

Related

ENSP00000441090.2, ENST00000545981.6

Conserved Domains (1) summary

pfam10211
Location:921 → 1012

Ax_dynein_light; Axonemal dynein light chain
XM_047430484.1 → XP_047286440.1 centromere protein J isoform X2

UniProtKB/TrEMBL

F6VUX8
XM_011535150.3 → XP_011533452.1 centromere protein J isoform X3

UniProtKB/TrEMBL

Q2KHM5

Conserved Domains (1) summary

pfam10211
Location:921 → 1012

Ax_dynein_light; Axonemal dynein light chain
XM_047430485.1 → XP_047286441.1 centromere protein J isoform X5
XM_017020673.2 → XP_016876162.1 centromere protein J isoform X4

UniProtKB/TrEMBL

Q2KHM5