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CEP135 centrosomal protein 135kDa [ Homo sapiens (human) ]

Gene ID: 9662, updated on 26-Nov-2014
Official Symbol
CEP135provided by HGNC
Official Full Name
centrosomal protein 135kDaprovided by HGNC
Primary source
HGNC:HGNC:29086
See related
Ensembl:ENSG00000174799; HPRD:09954; HPRD:11097; MIM:611423; Vega:OTTHUMG00000160748
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
CEP4; MCPH8; KIAA0635
Summary
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
See CEP135 in Epigenomics, MapViewer
Location:
4q12
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (55948808..56033363)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56814974..56899529)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene exocyst complex component 1 pseudogene Neighboring gene exocyst complex component 1 Neighboring gene KIAA1211 Neighboring gene uncharacterized LOC101928760 Neighboring gene mitochondrial ribosomal protein L22 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding 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
 
centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
centriole-centriole cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
centrosomal protein of 135 kDa
Names
centrosomal protein of 135 kDa
centrosomal protein 4
centrosome protein cep135

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_032806.1 

    Range
    5001..89556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025009.4NP_079285.2  centrosomal protein of 135 kDa

    See proteins identical to NP_079285.2

    Status: REVIEWED

    Source sequence(s)
    BC136535, BF448516, BK005586, BU734129, CA438857, DA944890
    Consensus CDS
    CCDS33986.1
    UniProtKB/Swiss-Prot
    Q66GS9
    Related
    ENSP00000257287, OTTHUMP00000218886, ENST00000257287, OTTHUMT00000362092
    Conserved Domains (1) summary
    TIGR02168
    Location:1991038
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    55948808..56033363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714055.1XP_006714118.1  

    Conserved Domains (1) summary
    TIGR02168
    Location:1991027
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  2. XM_005265788.1XP_005265845.1  

    Conserved Domains (1) summary
    COG1196
    Location:2756
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    56850187..56934716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    52768882..52853452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014645.1: Suppressed sequence

    Description
    NM_014645.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.