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    CENPJ centromere protein J [ Homo sapiens (human) ]

    Gene ID: 55835, updated on 19-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CENPJ in Genome Data Viewer
    Location:
    13q12.12-q12.13
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24882279..24934000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24090519..24142252, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 7479 Neighboring gene ankyrin repeat domain 20 family member A10, pseudogene Neighboring gene iroquois homeobox 1 pseudogene 1 Neighboring gene ring finger protein 17 Neighboring gene Sharpr-MPRA regulatory region 11275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:25467896-25468814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7480 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:25484884-25486083 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25496143-25497044 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25497045-25497946 Neighboring gene TPTE2 pseudogene 1 Neighboring gene solute carrier family 25 member 15 pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25531195-25531774 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25543733-25544640 Neighboring gene ribosomal protein L34 pseudogene 27

    Genomic regions, transcripts, and products

    Expression

    • 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

    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

    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

    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
      Q2KHM6, Q5JPD5, Q5T6R5, Q96KS5, 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: GCF_000001405.40-RS_2024_08

    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..24934000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q2KHM6, Q5JPD5, Q5T6R5, Q96KS5, Q9C067, Q9HC77
      UniProtKB/TrEMBL
      A8K8P1
    2. XM_011535149.3XP_011533451.1  centromere protein J isoform X2

      UniProtKB/TrEMBL
      F6VUX8, Q2KHM5
      Related
      ENSP00000441090.2, ENST00000545981.6
      Conserved Domains (1) summary
      pfam10211
      Location:9211012
      Ax_dynein_light; Axonemal dynein light chain
    3. XM_047430484.1XP_047286440.1  centromere protein J isoform X2

      UniProtKB/TrEMBL
      F6VUX8, Q2KHM5
    4. XM_011535150.3XP_011533452.1  centromere protein J isoform X3

      UniProtKB/TrEMBL
      Q2KHM5
      Conserved Domains (1) summary
      pfam10211
      Location:9211012
      Ax_dynein_light; Axonemal dynein light chain
    5. XM_047430485.1XP_047286441.1  centromere protein J isoform X5

      UniProtKB/TrEMBL
      Q2KHM5
    6. XM_017020673.2XP_016876162.1  centromere protein J isoform X4

      UniProtKB/TrEMBL
      Q2KHM5

    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..24142252 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374750.1XP_054230725.1  centromere protein J isoform X1

      UniProtKB/Swiss-Prot
      Q2KHM6, Q5JPD5, Q5T6R5, Q96KS5, Q9C067, Q9HC77
      UniProtKB/TrEMBL
      A8K8P1
    2. XM_054374751.1XP_054230726.1  centromere protein J isoform X2

      UniProtKB/TrEMBL
      Q2KHM5
    3. XM_054374752.1XP_054230727.1  centromere protein J isoform X2

      UniProtKB/TrEMBL
      Q2KHM5
    4. XM_054374753.1XP_054230728.1  centromere protein J isoform X3

      UniProtKB/TrEMBL
      Q2KHM5
    5. XM_054374755.1XP_054230730.1  centromere protein J isoform X5

      UniProtKB/TrEMBL
      Q2KHM5
    6. XM_054374754.1XP_054230729.1  centromere protein J isoform X4

      UniProtKB/TrEMBL
      Q2KHM5

    RNA

    1. XR_008488775.1 RNA Sequence

    2. XR_008488776.1 RNA Sequence