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CENPJ centromere protein J [ Homo sapiens (human) ]

Gene ID: 55835, updated on 14-Jul-2019

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
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

Genomic context

See CENPJ in Genome Data Viewer
Location:
13q12.12-q12.13
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (24882274..24922889, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25456412..25497027, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 20 family member A10, pseudogene Neighboring gene uncharacterized LOC112268115 Neighboring gene ring finger protein 17 Neighboring gene uncharacterized LOC107987187 Neighboring gene transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 Neighboring gene solute carrier family 25 member 15 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
  • TP53 Regulates Transcription of Cell Cycle Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Cycle Genes, organism-specific biosystemUnder a variety of stress conditions, TP53 (p53), stabilized by stress-induced phosphorylation at least on S15 and S20 serine residues, can induce the transcription of genes involved in cell cycle ar...
  • TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain, organism-specific biosystem (from REACTOME)
    TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain, organism-specific biosystemBTG2 is induced by TP53, leading to cessation of cellular proliferation (Rouault et al. 1996, Duriez et al. 2002). BTG2 binds to the CCR4-NOT complex and promotes mRNA deadenylation activity of this ...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131581, MGC131582, MGC142222, MGC142224

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell division NAS
Non-traceable Author Statement
more info
PubMed 
centriole elongation IDA
Inferred from Direct Assay
more info
PubMed 
centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
microtubule nucleation TAS
Traceable Author Statement
more info
PubMed 
microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of centriole elongation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of establishment of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
gamma-tubulin small complex NAS
Non-traceable Author Statement
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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

  1. NG_009165.2 RefSeqGene

    Range
    5059..45674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018451.5NP_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
    Q9HC77
    UniProtKB/TrEMBL
    A8K8P1
    Related
    ENSP00000371308.4, ENST00000381884.9
    Conserved Domains (2) summary
    pfam07202
    Location:11611335
    Tcp10_C; T-complex protein 10 C-terminus
    pfam10211
    Location:9211012
    Ax_dynein_light; Axonemal dynein light chain

RNA

  1. 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
  2. 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    24882274..24922889 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535149.2XP_011533451.1  centromere protein J isoform X1

    UniProtKB/TrEMBL
    F6VUX8
    Related
    ENSP00000441090.2, ENST00000545981.5
    Conserved Domains (1) summary
    pfam10211
    Location:9211012
    Ax_dynein_light; Axonemal dynein light chain
  2. XM_011535150.2XP_011533452.1  centromere protein J isoform X2

    Conserved Domains (1) summary
    pfam10211
    Location:9211012
    Ax_dynein_light; Axonemal dynein light chain
  3. XM_017020673.1XP_016876162.1  centromere protein J isoform X3

RNA

  1. XR_941627.1 RNA Sequence

  2. XR_941628.1 RNA Sequence

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