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CEP131 centrosomal protein 131 [ Homo sapiens (human) ]

Gene ID: 22994, updated on 4-Dec-2022

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 several cellular components, including ciliary transition zone; intercellular bridge; and microtubule organizing center. Colocalizes with centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues See more
Orthologs
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Genomic context

See CEP131 in Genome Data Viewer
Location:
17q25.3
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81189596..81222965, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82097947..82132085, complement)
105.20220307 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 parvalbumin like EF-hand containing 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

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 cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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 intercellular bridge IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in manchette IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule cytoskeleton 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)

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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_001009811.4NP_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/Swiss-Prot
    Q9UPN4
    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
    Q96F50, Q9UPN4
    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
    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/Swiss-Prot
    Q9UPN4
    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: 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_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

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

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

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

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

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

    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

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

    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

    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

    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

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

    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

    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

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

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

    UniProtKB/Swiss-Prot
    Q96F50

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    82097947..82132085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)