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    CEP131 centrosomal protein 131 [ Homo sapiens (human) ]

    Gene ID: 22994, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CEP131provided by HGNC
    Official Full Name
    centrosomal protein 131provided by HGNC
    Primary source
    HGNC:HGNC:29511
    See related
    Ensembl:ENSG00000141577 MIM:613479; AllianceGenome:HGNC:29511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AZ1; ZA1; AZI1
    Summary
    Enables protein homodimerization activity. Involved in several processes, including intraciliary transport involved in cilium assembly; protein localization to centrosome; and regulation of centrosome duplication. Located in ciliary transition zone; microtubule organizing center; and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP131 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81189596..81222965, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82097947..82132127, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79163396..79196765, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene apoptosis associated tyrosine kinase Neighboring gene uncharacterized LOC124904080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138075-79138818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138819-79139562 Neighboring gene parvalbumin like EF-hand containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79161487-79162058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79166719-79167436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79195126-79195796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79195797-79196466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79196467-79197136 Neighboring gene uncharacterized LOC105371925 Neighboring gene uncharacterized LOC124904081 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. CEP131 indicates poor prognosis and promotes cell proliferation and migration in hepatocellular carcinoma. Liu XH, et al. Int J Biochem Cell Biol, 2017 Sep. PMID 28694105
    2. Polo-like kinase 4 maintains centriolar satellite integrity by phosphorylation of centrosomal protein 131 (CEP131). Denu RA, et al. J Biol Chem, 2019 Apr 19. PMID 30804208, Free PMC Article
    3. Cep131 overexpression promotes centrosome amplification and colon cancer progression by regulating Plk4 stability. Kim DH, et al. Cell Death Dis, 2019 Jul 29. PMID 31358734, Free PMC Article
    4. Genomic organization of the mouse AZ1 gene that encodes the protein localized to preacrosomes of spermatids. Aoto H, et al. Genomics, 1997 Feb 15. PMID 9070930
    5. Regulation of CEP131 gene expression by SP1. Huong PT, et al. Gene, 2013 Jan 15. PMID 23137637

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature.
      Title: Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature.
    2. These findings demonstrate that Cep131 is a novel substrate of Plk4, and that phosphorylation or dysregulated Cep131 overexpression promotes Plk4 stabilization and therefore centrosome amplification, establishing a perspective in understanding a relationship between centrosome amplification and cancer development.
      Title: Cep131 overexpression promotes centrosome amplification and colon cancer progression by regulating Plk4 stability.
    3. PLK4 phosphorylates CEP131 at Ser-78 to maintain centriolar satellite integrity.
      Title: Polo-like kinase 4 maintains centriolar satellite integrity by phosphorylation of centrosomal protein 131 (CEP131).
    4. RNA of AZI1 functions as the "initiator" RNA to induce TMPRSS2-ERG fusion.
      Title: RNA-mediated gene fusion in mammalian cells.
    5. CEP131 serves as a potential prognostic biomarker in HCC
      Title: CEP131 indicates poor prognosis and promotes cell proliferation and migration in hepatocellular carcinoma.
    6. CEP131 is the key regulatory target of MK2 and 14-3-3 in centriolar satellite remodeling.
      Title: p38- and MK2-dependent signalling promotes stress-induced centriolar satellite remodelling via 14-3-3-dependent sequestration of CEP131/AZI1.
    7. These data therefore highlight the importance of human Cep131 for maintaining genomic integrity
      Title: The centriolar satellite protein Cep131 is important for genome stability.
    8. Analysis of the data suggested that SP1 is a pivotal transcription factor for the regulation of CEP131 expression, consequently leading the control of centrosome functions.
      Title: Regulation of CEP131 gene expression by SP1.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary transport involved in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intramanchette transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in manchette 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 cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of centrosome duplication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in manchette IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in sperm head-tail coupling apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 131 kDa
    Names
    5-azacytidine induced 1
    5-azacytidine-induced protein 1
    centrosomal protein 131 kDa
    centrosomal protein 131kDa
    pre-acrosome localization protein 1

    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.

    mRNA and Protein(s)

    1. NM_001009811.4 → NP_001009811.2  centrosomal protein of 131 kDa isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 3. This variant encodes isoform b, which is shorter than isoform c.
      Source sequence(s)
      AC027601
      Consensus CDS
      CCDS32764.1
      UniProtKB/TrEMBL
      B2RN10
      Related
      ENSP00000363914.3, ENST00000374782.7
      Conserved Domains (1) summary
      PHA03252
      Location:862 → 973
      PHA03252; DNA packaging tegument protein UL25; Provisional

    2. NM_001319228.2 → NP_001306157.1  centrosomal protein of 131 kDa isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (c).
      Source sequence(s)
      AC027601
      Consensus CDS
      CCDS82215.1
      UniProtKB/Swiss-Prot
      A6NHI8, B2RN11, Q96F50, Q9UPN4
      UniProtKB/TrEMBL
      B2RN10
      Related
      ENSP00000269392.4, ENST00000269392.8
      Conserved Domains (3) summary
      PHA03252
      Location:901 → 1012
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:881 → 891
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799 → 902
      GBP_C; Guanylate-binding protein, C-terminal domain

    3. NM_001319229.2 → NP_001306158.1  centrosomal protein of 131 kDa isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region, compared to variant 3. The encoded isoform (d) is shorter, compared to isoform c.
      Source sequence(s)
      AC027601
      Consensus CDS
      CCDS82214.1
      UniProtKB/TrEMBL
      B2RN10, I3L2J8
      Related
      ENSP00000459733.1, ENST00000575907.5
      Conserved Domains (2) summary
      PTZ00121
      Location:280 → 1037
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:783 → 1041
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. NM_014984.4 → NP_055799.2  centrosomal protein of 131 kDa isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. This results in a shorter protein (isoform a), compared to isoform c.
      Source sequence(s)
      AC027601
      Consensus CDS
      CCDS45808.1
      UniProtKB/TrEMBL
      B2RN10
      Related
      ENSP00000393583.2, ENST00000450824.7
      Conserved Domains (3) summary
      PHA03252
      Location:898 → 1009
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:878 → 888
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:796 → 899
      GBP_C; Guanylate-binding protein, C-terminal domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81189596..81222965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435665.1 → XP_047291621.1  centrosomal protein of 131 kDa isoform X16

      UniProtKB/TrEMBL
      B2RN10

    2. XM_047435662.1 → XP_047291618.1  centrosomal protein of 131 kDa isoform X13

      UniProtKB/TrEMBL
      B2RN10

    3. XM_047435661.1 → XP_047291617.1  centrosomal protein of 131 kDa isoform X11

      UniProtKB/TrEMBL
      B2RN10

    4. XM_047435658.1 → XP_047291614.1  centrosomal protein of 131 kDa isoform X6

      UniProtKB/TrEMBL
      B2RN10

    5. XM_047435659.1 → XP_047291615.1  centrosomal protein of 131 kDa isoform X8

      UniProtKB/TrEMBL
      B2RN10

    6. XM_011524548.3 → XP_011522850.1  centrosomal protein of 131 kDa isoform X2

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (3) summary
      PHA03252
      Location:903 → 1014
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:882 → 893
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:796 → 904
      GBP_C; Guanylate-binding protein, C-terminal domain

    7. XM_047435663.1 → XP_047291619.1  centrosomal protein of 131 kDa isoform X14

      UniProtKB/TrEMBL
      B2RN10

    8. XM_011524553.3 → XP_011522855.1  centrosomal protein of 131 kDa isoform X12

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (2) summary
      PHA03252
      Location:865 → 976
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cl23720
      Location:935 → 1025
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    9. XM_011524552.3 → XP_011522854.1  centrosomal protein of 131 kDa isoform X10

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (1) summary
      PHA03252
      Location:870 → 981
      PHA03252; DNA packaging tegument protein UL25; Provisional

    10. XM_011524550.3 → XP_011522852.1  centrosomal protein of 131 kDa isoform X4

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (4) summary
      PHA03252
      Location:900 → 1011
      PHA03252; DNA packaging tegument protein UL25; Provisional
      pfam13868
      Location:578 → 891
      TPH; Trichohyalin-plectin-homology domain
      cd16269
      Location:879 → 890
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799 → 901
      GBP_C; Guanylate-binding protein, C-terminal domain

    11. XM_047435660.1 → XP_047291616.1  centrosomal protein of 131 kDa isoform X9

      UniProtKB/TrEMBL
      B2RN10

    12. XM_011524551.3 → XP_011522853.1  centrosomal protein of 131 kDa isoform X7

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (3) summary
      PHA03252
      Location:906 → 1017
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:885 → 896
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799 → 907
      GBP_C; Guanylate-binding protein, C-terminal domain

    13. XM_011524555.3 → XP_011522857.1  centrosomal protein of 131 kDa isoform X1

      See identical proteins and their annotated locations for XP_011522857.1

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (3) summary
      PHA03252
      Location:906 → 1017
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:885 → 896
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799 → 907
      GBP_C; Guanylate-binding protein, C-terminal domain

    14. XM_047435664.1 → XP_047291620.1  centrosomal protein of 131 kDa isoform X15

      UniProtKB/TrEMBL
      B2RN10

    15. XM_047435657.1 → XP_047291613.1  centrosomal protein of 131 kDa isoform X5

      UniProtKB/TrEMBL
      B2RN10

    16. XM_047435656.1 → XP_047291612.1  centrosomal protein of 131 kDa isoform X3

      UniProtKB/Swiss-Prot
      A6NHI8, B2RN11, Q96F50, Q9UPN4
      UniProtKB/TrEMBL
      B2RN10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82097947..82132127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315529.1 → XP_054171504.1  centrosomal protein of 131 kDa isoform X3

      UniProtKB/TrEMBL
      B2RN10

    2. XM_054315531.1 → XP_054171506.1  centrosomal protein of 131 kDa isoform X5

      UniProtKB/TrEMBL
      B2RN10

    3. XM_054315541.1 → XP_054171516.1  centrosomal protein of 131 kDa isoform X15

      UniProtKB/TrEMBL
      B2RN10

    4. XM_054315542.1 → XP_054171517.1  centrosomal protein of 131 kDa isoform X16

      UniProtKB/TrEMBL
      B2RN10

    5. XM_054315537.1 → XP_054171512.1  centrosomal protein of 131 kDa isoform X11

      UniProtKB/TrEMBL
      B2RN10

    6. XM_054315532.1 → XP_054171507.1  centrosomal protein of 131 kDa isoform X6

      UniProtKB/TrEMBL
      B2RN10

    7. XM_054315534.1 → XP_054171509.1  centrosomal protein of 131 kDa isoform X8

      UniProtKB/TrEMBL
      B2RN10

    8. XM_054315528.1 → XP_054171503.1  centrosomal protein of 131 kDa isoform X2

      UniProtKB/TrEMBL
      B2RN10

    9. XM_054315540.1 → XP_054171515.1  centrosomal protein of 131 kDa isoform X14

      UniProtKB/TrEMBL
      B2RN10

    10. XM_054315536.1 → XP_054171511.1  centrosomal protein of 131 kDa isoform X10

      UniProtKB/TrEMBL
      B2RN10

    11. XM_054315530.1 → XP_054171505.1  centrosomal protein of 131 kDa isoform X4

      UniProtKB/TrEMBL
      B2RN10

    12. XM_054315535.1 → XP_054171510.1  centrosomal protein of 131 kDa isoform X9

      UniProtKB/TrEMBL
      B2RN10

    13. XM_054315533.1 → XP_054171508.1  centrosomal protein of 131 kDa isoform X7

      UniProtKB/TrEMBL
      B2RN10

    14. XM_054315527.1 → XP_054171502.1  centrosomal protein of 131 kDa isoform X1

      UniProtKB/TrEMBL
      B2RN10

    15. XM_054315539.1 → XP_054171514.1  centrosomal protein of 131 kDa isoform X13

      UniProtKB/TrEMBL
      B2RN10

    16. XM_054315538.1 → XP_054171513.1  centrosomal protein of 131 kDa isoform X12

      UniProtKB/TrEMBL
      B2RN10
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPN4.3 GenPept UniProtKB/Swiss-Prot:Q9UPN4

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