U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    CEP131 centrosomal protein 131 [ Homo sapiens (human) ]

    Gene ID: 22994, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001009811.4NP_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:862973
      PHA03252; DNA packaging tegument protein UL25; Provisional
    2. NM_001319228.2NP_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:9011012
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:881891
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799902
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. NM_001319229.2NP_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:2801037
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:7831041
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    4. NM_014984.4NP_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:8981009
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:878888
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:796899
      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_047435665.1XP_047291621.1  centrosomal protein of 131 kDa isoform X16

      UniProtKB/TrEMBL
      B2RN10
    2. XM_047435662.1XP_047291618.1  centrosomal protein of 131 kDa isoform X13

      UniProtKB/TrEMBL
      B2RN10
    3. XM_047435661.1XP_047291617.1  centrosomal protein of 131 kDa isoform X11

      UniProtKB/TrEMBL
      B2RN10
    4. XM_047435658.1XP_047291614.1  centrosomal protein of 131 kDa isoform X6

      UniProtKB/TrEMBL
      B2RN10
    5. XM_047435659.1XP_047291615.1  centrosomal protein of 131 kDa isoform X8

      UniProtKB/TrEMBL
      B2RN10
    6. XM_011524548.3XP_011522850.1  centrosomal protein of 131 kDa isoform X2

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (3) summary
      PHA03252
      Location:9031014
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:882893
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:796904
      GBP_C; Guanylate-binding protein, C-terminal domain
    7. XM_047435663.1XP_047291619.1  centrosomal protein of 131 kDa isoform X14

      UniProtKB/TrEMBL
      B2RN10
    8. XM_011524553.3XP_011522855.1  centrosomal protein of 131 kDa isoform X12

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (2) summary
      PHA03252
      Location:865976
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cl23720
      Location:9351025
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    9. XM_011524552.3XP_011522854.1  centrosomal protein of 131 kDa isoform X10

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (1) summary
      PHA03252
      Location:870981
      PHA03252; DNA packaging tegument protein UL25; Provisional
    10. XM_011524550.3XP_011522852.1  centrosomal protein of 131 kDa isoform X4

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (4) summary
      PHA03252
      Location:9001011
      PHA03252; DNA packaging tegument protein UL25; Provisional
      pfam13868
      Location:578891
      TPH; Trichohyalin-plectin-homology domain
      cd16269
      Location:879890
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799901
      GBP_C; Guanylate-binding protein, C-terminal domain
    11. XM_047435660.1XP_047291616.1  centrosomal protein of 131 kDa isoform X9

      UniProtKB/TrEMBL
      B2RN10
    12. XM_011524551.3XP_011522853.1  centrosomal protein of 131 kDa isoform X7

      UniProtKB/TrEMBL
      B2RN10
      Conserved Domains (3) summary
      PHA03252
      Location:9061017
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:885896
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799907
      GBP_C; Guanylate-binding protein, C-terminal domain
    13. XM_011524555.3XP_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:9061017
      PHA03252; DNA packaging tegument protein UL25; Provisional
      cd16269
      Location:885896
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:799907
      GBP_C; Guanylate-binding protein, C-terminal domain
    14. XM_047435664.1XP_047291620.1  centrosomal protein of 131 kDa isoform X15

      UniProtKB/TrEMBL
      B2RN10
    15. XM_047435657.1XP_047291613.1  centrosomal protein of 131 kDa isoform X5

      UniProtKB/TrEMBL
      B2RN10
    16. XM_047435656.1XP_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_054315529.1XP_054171504.1  centrosomal protein of 131 kDa isoform X3

      UniProtKB/TrEMBL
      B2RN10
    2. XM_054315531.1XP_054171506.1  centrosomal protein of 131 kDa isoform X5

      UniProtKB/TrEMBL
      B2RN10
    3. XM_054315541.1XP_054171516.1  centrosomal protein of 131 kDa isoform X15

      UniProtKB/TrEMBL
      B2RN10
    4. XM_054315542.1XP_054171517.1  centrosomal protein of 131 kDa isoform X16

      UniProtKB/TrEMBL
      B2RN10
    5. XM_054315537.1XP_054171512.1  centrosomal protein of 131 kDa isoform X11

      UniProtKB/TrEMBL
      B2RN10
    6. XM_054315532.1XP_054171507.1  centrosomal protein of 131 kDa isoform X6

      UniProtKB/TrEMBL
      B2RN10
    7. XM_054315534.1XP_054171509.1  centrosomal protein of 131 kDa isoform X8

      UniProtKB/TrEMBL
      B2RN10
    8. XM_054315528.1XP_054171503.1  centrosomal protein of 131 kDa isoform X2

      UniProtKB/TrEMBL
      B2RN10
    9. XM_054315540.1XP_054171515.1  centrosomal protein of 131 kDa isoform X14

      UniProtKB/TrEMBL
      B2RN10
    10. XM_054315536.1XP_054171511.1  centrosomal protein of 131 kDa isoform X10

      UniProtKB/TrEMBL
      B2RN10
    11. XM_054315530.1XP_054171505.1  centrosomal protein of 131 kDa isoform X4

      UniProtKB/TrEMBL
      B2RN10
    12. XM_054315535.1XP_054171510.1  centrosomal protein of 131 kDa isoform X9

      UniProtKB/TrEMBL
      B2RN10
    13. XM_054315533.1XP_054171508.1  centrosomal protein of 131 kDa isoform X7

      UniProtKB/TrEMBL
      B2RN10
    14. XM_054315527.1XP_054171502.1  centrosomal protein of 131 kDa isoform X1

      UniProtKB/TrEMBL
      B2RN10
    15. XM_054315539.1XP_054171514.1  centrosomal protein of 131 kDa isoform X13

      UniProtKB/TrEMBL
      B2RN10
    16. XM_054315538.1XP_054171513.1  centrosomal protein of 131 kDa isoform X12

      UniProtKB/TrEMBL
      B2RN10