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CENPJ centromere protein J [ Homo sapiens (human) ]

Gene ID: 55835, updated on 20-Dec-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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (24882279..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 Functions

What's a GeneRIF?

Pathways from PubChem

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 Updated Annotation Release 109.20191205

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
    24882279..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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