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CEP131 centrosomal protein 131 [ Homo sapiens (human) ]

Gene ID: 22994, updated on 7-Jul-2019

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
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
Expression
Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See CEP131 in Genome Data Viewer
Location:
17q25.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (81189595..81222989, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79163393..79196793, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene apoptosis associated tyrosine kinase Neighboring gene microRNA 1250 Neighboring gene parvalbumin like EF-hand containing Neighboring gene uncharacterized LOC105371925 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 8

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport involved in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of centrosome duplication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
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)

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
    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 (1) summary
    PHA03252
    Location:865976
    PHA03252; DNA packaging tegument protein UL25; Provisional
  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 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    81189595..81222989 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524548.2XP_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
  2. XM_011524552.2XP_011522854.1  centrosomal protein of 131 kDa isoform X6

    Conserved Domains (1) summary
    PHA03252
    Location:870981
    PHA03252; DNA packaging tegument protein UL25; Provisional
  3. XM_011524550.2XP_011522852.1  centrosomal protein of 131 kDa isoform X3

    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
  4. XM_011524555.2XP_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
  5. XM_011524547.2XP_011522849.1  centrosomal protein of 131 kDa isoform X1

    See identical proteins and their annotated locations for XP_011522849.1

    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
  6. XM_011524553.2XP_011522855.1  centrosomal protein of 131 kDa isoform X7

    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)
  7. XM_017024369.1XP_016879858.1  centrosomal protein of 131 kDa isoform X5

  8. XM_011524551.2XP_011522853.1  centrosomal protein of 131 kDa isoform X4

    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
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