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CEP57 centrosomal protein 57 [ Homo sapiens (human) ]

Gene ID: 9702, updated on 13-Mar-2020

Summary

Official Symbol
CEP57provided by HGNC
Official Full Name
centrosomal protein 57provided by HGNC
Primary source
HGNC:HGNC:30794
See related
Ensembl:ENSG00000166037 MIM:607951
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MVA2; PIG8; TSP57
Summary
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in testis (RPKM 11.8), gall bladder (RPKM 11.4) and 25 other tissues See more
Orthologs

Genomic context

See CEP57 in Genome Data Viewer
Location:
11q21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (95790461..95832693)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (95523625..95565857)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fibroblast growth factor receptor 3 pseudogene 2 Neighboring gene family with sequence similarity 76 member B Neighboring gene RNA, 5S ribosomal pseudogene 345 Neighboring gene myotubularin related protein 2 Neighboring gene ribosomal protein L32 pseudogene 25

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

Associated conditions

Description Tests
Mosaic variegated aneuploidy syndrome 2
MedGen: C3279843 OMIM: 614114 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with centrosomal protein 57kDa (CEP57) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fibroblast growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
gamma-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
fibroblast growth factor receptor signaling pathway IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule anchoring IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
centrosomal protein of 57 kDa
Names
FGF2-interacting protein
centrosomal protein 57kDa
proliferation-inducing protein 8
testis-specific protein 57
translokin

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.

Genomic

  1. NG_029829.1 RefSeqGene

    Range
    5001..47233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_526

mRNA and Protein(s)

  1. NM_001243776.1NP_001230705.1  centrosomal protein of 57 kDa isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, compared to variant 1. The resulting isoform (b) has a shorter and different N-terminus, compared to isoform a.
    Source sequence(s)
    AA730219, AK293277, AY239292, DB032301
    Consensus CDS
    CCDS58167.1
    UniProtKB/Swiss-Prot
    Q86XR8
    Related
    ENSP00000443436.1, ENST00000541150.5
    Conserved Domains (2) summary
    pfam06657
    Location:340411
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:59236
    Cep57_CLD; Centrosome localization domain of Cep57
  2. NM_001243777.1NP_001230706.1  centrosomal protein of 57 kDa isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AA730219, AY239292, D42054, DB032301
    Consensus CDS
    CCDS58166.1
    UniProtKB/Swiss-Prot
    Q86XR8
    Related
    ENSP00000317487.5, ENST00000325486.9
    Conserved Domains (2) summary
    pfam06657
    Location:323394
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68245
    Cep57_CLD; Centrosome localization domain of Cep57
  3. NM_001363604.1NP_001350533.1  centrosomal protein of 57 kDa isoform d

    Status: REVIEWED

    Source sequence(s)
    AP001877
    Consensus CDS
    CCDS86240.1
    Related
    ENSP00000441392.1, ENST00000537677.5
    Conserved Domains (2) summary
    pfam06657
    Location:321394
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:41218
    Cep57_CLD; Centrosome localization domain of Cep57
  4. NM_014679.5NP_055494.2  centrosomal protein of 57 kDa isoform a

    See identical proteins and their annotated locations for NP_055494.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AA730219, AY239292, BC001233, DB032301
    Consensus CDS
    CCDS8304.1
    UniProtKB/Swiss-Prot
    Q86XR8
    Related
    ENSP00000317902.5, ENST00000325542.10
    Conserved Domains (2) summary
    pfam06657
    Location:349420
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68245
    Cep57_CLD; Centrosome localization domain of Cep57

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    95790461..95832693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718946.3XP_006719009.1  centrosomal protein of 57 kDa isoform X4

    Conserved Domains (2) summary
    pfam06657
    Location:287358
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68233
    Cep57_CLD; Centrosome localization domain of Cep57
  2. XM_006718945.3XP_006719008.1  centrosomal protein of 57 kDa isoform X3

    Conserved Domains (4) summary
    pfam06657
    Location:310381
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:68206
    Cep57_CLD; Centrosome localization domain of Cep57
    cd16269
    Location:160171
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:63196
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. XM_017018593.2XP_016874082.1  centrosomal protein of 57 kDa isoform X5

  4. XM_017018594.2XP_016874083.1  centrosomal protein of 57 kDa isoform X7

  5. XM_017018592.1XP_016874081.1  centrosomal protein of 57 kDa isoform X1

    UniProtKB/Swiss-Prot
    Q86XR8
    Conserved Domains (2) summary
    pfam06657
    Location:340411
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:59236
    Cep57_CLD; Centrosome localization domain of Cep57
  6. XM_024448779.1XP_024304547.1  centrosomal protein of 57 kDa isoform X6

    Conserved Domains (2) summary
    pfam06657
    Location:282355
    Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
    pfam14073
    Location:41179
    Cep57_CLD; Centrosome localization domain of Cep57

RNA

  1. XR_001748050.2 RNA Sequence

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