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Aliases for CEP131 Gene

Aliases for CEP131 Gene

  • Centrosomal Protein 131 2 3 5
  • Pre-Acrosome Localization Protein 1 3 4
  • 5-Azacytidine-Induced Protein 1 3 4
  • Centrosomal Protein 131kDa 2 3
  • 5-Azacytidine Induced 1 2 3
  • AZI1 3 4
  • Centrosomal Protein Of 131 KDa 3
  • Centrosomal Protein 131 KDa 3
  • KIAA1118 4
  • AZ1 3
  • ZA1 3

External Ids for CEP131 Gene

Previous HGNC Symbols for CEP131 Gene

  • AZI1

Previous GeneCards Identifiers for CEP131 Gene

  • GC17M079164

Summaries for CEP131 Gene

GeneCards Summary for CEP131 Gene

CEP131 (Centrosomal Protein 131) is a Protein Coding gene. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include protein homodimerization activity and protein complex binding.

UniProtKB/Swiss-Prot for CEP131 Gene

  • Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Acts also as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806).

Gene Wiki entry for CEP131 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP131 Gene

Genomics for CEP131 Gene

Regulatory Elements for CEP131 Gene


Enhancers around CEP131 on UCSC Golden Path with GeneCards custom track

Promoters for CEP131 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001810503 -1 1601 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 FOS CEBPZ SP3 SP5

Genomic Location for CEP131 Gene

Chromosome:
17
Start:
81,189,593 bp from pter
End:
81,222,999 bp from pter
Size:
33,407 bases
Orientation:
Minus strand

Genomic View for CEP131 Gene

Genes around CEP131 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP131 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP131 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP131 Gene

Proteins for CEP131 Gene

  • Protein details for CEP131 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPN4-CP131_HUMAN
    Recommended name:
    Centrosomal protein of 131 kDa
    Protein Accession:
    Q9UPN4
    Secondary Accessions:
    • A6NHI8
    • B2RN11
    • Q96F50

    Protein attributes for CEP131 Gene

    Size:
    1083 amino acids
    Molecular mass:
    122149 Da
    Quaternary structure:
    • Self-associates. Associates with the centriolar satellite BBSome protein complex. Interacts with BBS4; the interaction limits BBS4 availability for association with the BBSome complex, and hence negatively regulates ciliary localization of the BBSome complex (PubMed:24550735). Interacts with MIB1 (PubMed:24121310). Interacts with PCM1; the interaction increases in response to ultraviolet light (UV) radiation (PubMed:22797915, PubMed:24121310). Associates with microtubules; association with microtubules is reduced in response to cellular stress, such as UV stimulation, in a process that requires p38 MAP kinase signaling (PubMed:24121310). Interacts with CEP290, DCTN1, PCNT, PCM1 and CEP152. Interacts with 14-3-3 proteins following UV-induced phosphorylation by MAPKAPK2; this inhibits formation of novel centriolar satellites (PubMed:26616734).
    Miscellaneous:
    • Transient cell cultured-based knock-down (by RNAi) of CEP131 leads to a reduction in ciliogenesis (PubMed:17954613, PubMed:24121310). However, analysis of mice with chronic absence of CEP131 following genetic deletion (knockout) shows that cilia develop and function normally in vivo. This suggests that CEP131 is not essential for ciliogenesis, except for the modified cilia of the developing sperm flagella, and that there is an alternative mechanism to compensate for the lack of CEP131.
    SequenceCaution:
    • Sequence=BAA83070.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP131 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP131 Gene

Post-translational modifications for CEP131 Gene

  • MAPKAPK2-dependent phosphorylation at Ser-47 and Ser-78 occurs in response to cellular stress such as exposure to ultraviolet irradiation and promotes binding to 14-3-3 proteins which leads to cytoplasmic sequestration of CEP131 and blocks formation of new centriolar satellites.
  • Ubiquitinated. Undergoes monoubiquitination catalyzed by the E3 ubiquitin-protein ligase MIB1 in proliferating cells, preventing cilia formation. Monoubiquitination by MIB1 is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, resulting in cilia formation initiation.
  • Ubiquitination at Lys 57, Lys 122, Lys 157, Lys 175, Lys 200, Lys 214, Lys 228, Lys 254, Lys 320, Lys 510, Lys 656, Lys 717, and Lys 504
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP131 Gene

Domains & Families for CEP131 Gene

Protein Domains for CEP131 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP131 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPN4

UniProtKB/Swiss-Prot:

CP131_HUMAN :
  • Contains 1 IQ domain.
  • Belongs to the CEP131 family.
Domain:
  • Contains 1 IQ domain.
Family:
  • Belongs to the CEP131 family.
genes like me logo Genes that share domains with CEP131: view

No data available for Gene Families for CEP131 Gene

Function for CEP131 Gene

Molecular function for CEP131 Gene

UniProtKB/Swiss-Prot Function:
Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Acts also as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806).
UniProtKB/Swiss-Prot Induction:
Up-regulated by the transcription factor SP1.

Gene Ontology (GO) - Molecular Function for CEP131 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 22797915
GO:0032403 protein complex binding IDA 24550735
GO:0042803 protein homodimerization activity IDA 24550735
genes like me logo Genes that share ontologies with CEP131: view
genes like me logo Genes that share phenotypes with CEP131: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CEP131 Gene

Localization for CEP131 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP131 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Colocalized with pericentriolar material protein PCM1 at centriolar satellites. During spermiogenesis, becomes enriched with nephrocystin NPHP1 at the transition zone, a structure at the base of the ciliary axoneme important for regulating traffic into the ciliary compartment. Traffics towards and away from the centrosome/basal body and the transition zone of the ciliary axoneme in a microtubule-dependent manner. Localized at the Golgi-derived acrosome and the centrosome-containing head-tail coupling apparatus (HTCA) (By similarity). Ubiquitinated form is sequestered and colocalized with BBS4, CEP290, PCM1 and PCNT at centriolar satellites in proliferating cells. Colocalized with the pericentriolar material protein PCM1 at centrosome. Traffics towards and away from centriolar satellites and centrosome in a microtubule- and dynein-dependent manner in interphase cells. Displaced from centriolar satellites but still remains associated with the centrosome in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAPK signaling (PubMed:26616734). {ECO:0000250, ECO:0000269 PubMed:26616734}.

Gene Ontology (GO) - Cellular Components for CEP131 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 colocalizes_with centrosome IDA 14654843
GO:0005815 microtubule organizing center IDA --
genes like me logo Genes that share ontologies with CEP131: view

No data available for Subcellular locations from COMPARTMENTS for CEP131 Gene

Pathways & Interactions for CEP131 Gene

genes like me logo Genes that share pathways with CEP131: view

Gene Ontology (GO) - Biological Process for CEP131 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006810 transport IEA --
GO:0007049 cell cycle IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with CEP131: view

No data available for SIGNOR curated interactions for CEP131 Gene

Transcripts for CEP131 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP131 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:

ExUns: 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7:

Relevant External Links for CEP131 Gene

GeneLoc Exon Structure for
CEP131
ECgene alternative splicing isoforms for
CEP131

Expression for CEP131 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP131 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP131 Gene

This gene is overexpressed in Pancreas (33.3), Testis (8.9), and Liver, secretome (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP131 Gene



NURSA nuclear receptor signaling pathways regulating expression of CEP131 Gene:

CEP131
genes like me logo Genes that share expression patterns with CEP131: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CEP131 Gene

Orthologs for CEP131 Gene

This gene was present in the common ancestor of animals.

Orthologs for CEP131 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AZI1 35 34
  • 95.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AZI1 34 35
  • 80.44 (n)
dog
(Canis familiaris)
Mammalia AZI1 34 35
  • 79.32 (n)
mouse
(Mus musculus)
Mammalia Azi1 35 34
  • 79.16 (n)
OneToOne
Cep131 16
rat
(Rattus norvegicus)
Mammalia Azi1 34
  • 78.61 (n)
oppossum
(Monodelphis domestica)
Mammalia AZI1 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AZI1 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves AZI1 35 34
  • 70.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AZI1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia azi1 34
  • 60.63 (n)
Str.680 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25395 34
zebrafish
(Danio rerio)
Actinopterygii azi1 34 35 35
  • 59.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta dila 35
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
CSA.10608 35
  • 29 (a)
OneToMany
Species where no ortholog for CEP131 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP131 Gene

ENSEMBL:
Gene Tree for CEP131 (if available)
TreeFam:
Gene Tree for CEP131 (if available)

Paralogs for CEP131 Gene

No data available for Paralogs for CEP131 Gene

Variants for CEP131 Gene

Sequence variations from dbSNP and Humsavar for CEP131 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10677339 -- 81,223,565(+) CTGCT(-/TTG)TTGTT upstream-variant-2KB
rs111254637 -- 81,218,152(+) ACTCT(C/T)CTGTC intron-variant
rs111278676 -- 81,220,597(+) TCAAG(C/T)GATTC intron-variant
rs111309777 -- 81,202,228(+) GCCCC(A/G)AGATC intron-variant
rs111464253 -- 81,191,025(+) GCTTC(A/C/T)GCTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CEP131 Gene

Variant ID Type Subtype PubMed ID
dgv3292n100 CNV gain 25217958
dgv433e201 CNV deletion 23290073
dgv434e201 CNV deletion 23290073
dgv46n68 CNV loss 17160897
esv1160595 CNV insertion 17803354
esv1376421 CNV deletion 17803354
esv1728201 CNV insertion 17803354
esv26223 CNV gain+loss 19812545
esv2672358 CNV deletion 23128226
esv2716435 CNV deletion 23290073
esv2716439 CNV deletion 23290073
esv2716442 CNV deletion 23290073
esv2758707 CNV gain 17122850
esv3414063 CNV insertion 20981092
esv3433908 CNV duplication 20981092
esv995211 CNV deletion 20482838
nsv1057306 CNV loss 25217958
nsv1064123 CNV gain 25217958
nsv1065052 CNV gain 25217958
nsv428351 CNV gain 18775914
nsv457971 CNV loss 19166990
nsv470619 CNV loss 18288195
nsv576172 CNV loss 21841781
nsv828128 CNV loss 20364138
nsv952389 CNV deletion 24416366
nsv9597 CNV gain 18304495

Variation tolerance for CEP131 Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.24; 88.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP131 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP131

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP131 Gene

Disorders for CEP131 Gene

Relevant External Links for CEP131

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP131

No disorders were found for CEP131 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP131 Gene

Publications for CEP131 Gene

  1. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4 64
  3. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A. … Reiter J.F. (Elife 2015) 3 4 64
  4. p38- and MK2-dependent signalling promotes stress-induced centriolar satellite remodelling via 14-3-3-dependent sequestration of CEP131/AZI1. (PMID: 26616734) Tollenaere M.A. … Bekker-Jensen S. (Nat. Commun. 2015) 3 4 64
  5. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. (PMID: 24550735) Chamling X. … Sheffield V.C. (PLoS Genet. 2014) 3 4 64

Products for CEP131 Gene

Sources for CEP131 Gene

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