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CENPJ centromere protein J [ Homo sapiens (human) ]

Gene ID: 55835, updated on 2-Oct-2022

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
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Genomic context

See CENPJ in Genome Data Viewer
Location:
13q12.12-q12.13
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24882279..24941542, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24090519..24131091, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25456417..25496999, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 20 family member A10, pseudogene Neighboring gene ring finger protein 17 Neighboring gene Sharpr-MPRA regulatory region 11275 Neighboring gene uncharacterized LOC107987187 Neighboring gene TPTE2 pseudogene 1 Neighboring gene solute carrier family 25 member 15 pseudogene 3 Neighboring gene ribosomal protein L34 pseudogene 27

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
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
PubMed 
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
PubMed 
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
PubMed 
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 IC
Inferred by Curator
more info
PubMed 
involved_in regulation of centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mitotic spindle organization IC
Inferred by Curator
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
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of procentriole replication complex IPI
Inferred from Physical Interaction
more info
PubMed 

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)

NEW Try the new Transcript table

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_009165.3 RefSeqGene

    Range
    23681..64263
    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
    Q9C067, 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    24882279..24941542 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430482.1XP_047286438.1  centromere protein J isoform X1

    UniProtKB/Swiss-Prot
    Q9C067
  2. XM_047430483.1XP_047286439.1  centromere protein J isoform X1

    UniProtKB/Swiss-Prot
    Q9C067
  3. XM_011535149.3XP_011533451.1  centromere protein J isoform X2

    UniProtKB/TrEMBL
    F6VUX8
    Related
    ENSP00000441090.2, ENST00000545981.6
    Conserved Domains (1) summary
    pfam10211
    Location:9211012
    Ax_dynein_light; Axonemal dynein light chain
  4. XM_047430484.1XP_047286440.1  centromere protein J isoform X2

    UniProtKB/TrEMBL
    F6VUX8
  5. XM_011535150.3XP_011533452.1  centromere protein J isoform X3

    Conserved Domains (1) summary
    pfam10211
    Location:9211012
    Ax_dynein_light; Axonemal dynein light chain
  6. XM_047430485.1XP_047286441.1  centromere protein J isoform X5

  7. XM_017020673.2XP_016876162.1  centromere protein J isoform X4

RNA

  1. XR_941627.2 RNA Sequence

  2. XR_941628.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    24090519..24131091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)