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CEP41 centrosomal protein 41 [ Homo sapiens (human) ]

Gene ID: 95681, updated on 14-Jul-2019

Summary

Official Symbol
CEP41provided by HGNC
Official Full Name
centrosomal protein 41provided by HGNC
Primary source
HGNC:HGNC:12370
See related
Ensembl:ENSG00000106477 MIM:610523
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
JBTS15; TSGA14
Summary
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression
Broad expression in testis (RPKM 5.8), salivary gland (RPKM 3.3) and 23 other tissues See more
Orthologs

Genomic context

See CEP41 in Genome Data Viewer
Location:
7q32.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (130393771..130441210, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130033612..130081051, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene carboxypeptidase A5 Neighboring gene uncharacterized LOC105375504 Neighboring gene carboxypeptidase A1 Neighboring gene uncharacterized LOC105375505 Neighboring gene MEST intronic transcript 1, antisense RNA Neighboring gene mesoderm specific transcript

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

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

Clone Names

  • DKFZp762H1311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein polyglutamylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of G2/M transition of 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 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
centrosomal protein of 41 kDa
Names
centrosomal protein 41 kDa
centrosomal protein 41kDa
testis specific protein A14
testis specific, 14
testis-specific gene A14 protein

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_032164.2 RefSeqGene

    Range
    5001..52440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257158.2NP_001244087.1  centrosomal protein of 41 kDa isoform 2

    See identical proteins and their annotated locations for NP_001244087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AC007938, BC018789, CB155730, DB069500
    Consensus CDS
    CCDS59079.1
    UniProtKB/Swiss-Prot
    Q9BYV8
    Related
    ENSP00000342738.5, ENST00000343969.9
    Conserved Domains (1) summary
    cd00158
    Location:170253
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
  2. NM_001257159.1NP_001244088.1  centrosomal protein of 41 kDa isoform 3

    See identical proteins and their annotated locations for NP_001244088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1.
    Source sequence(s)
    AC007938, AK298618, BC018789, CB155730, DB069500
    Consensus CDS
    CCDS59078.1
    UniProtKB/Swiss-Prot
    Q9BYV8
    Related
    ENSP00000445888.1, ENST00000541543.5
    Conserved Domains (1) summary
    cd00158
    Location:154237
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
  3. NM_001257160.2NP_001244089.1  centrosomal protein of 41 kDa isoform 4

    See identical proteins and their annotated locations for NP_001244089.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple exons in the 3' coding region and has a novel 3' terminus, compared to variant 1, which results in an isoform (4; also known as short (S) type) which has a severely truncated and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF429309
    Consensus CDS
    CCDS59080.1
    UniProtKB/Swiss-Prot
    Q9BYV8
    Related
    ENSP00000417815.1, ENST00000489512.5
  4. NM_018718.3NP_061188.1  centrosomal protein of 41 kDa isoform 1

    See identical proteins and their annotated locations for NP_061188.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as long (L) type).
    Source sequence(s)
    AC007938, AF429308
    Consensus CDS
    CCDS5821.1
    UniProtKB/Swiss-Prot
    Q9BYV8
    Related
    ENSP00000223208.4, ENST00000223208.10
    Conserved Domains (1) summary
    cd00158
    Location:170255
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

RNA

  1. NR_046443.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 1, which results in a frameshift and early stop codon. This transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007938, AK311382, CB155730, DB069500

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    130393771..130441210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516709.3XP_011515011.1  centrosomal protein of 41 kDa isoform X2

    See identical proteins and their annotated locations for XP_011515011.1

    Conserved Domains (1) summary
    cd00158
    Location:135220
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
  2. XM_024447004.1XP_024302772.1  centrosomal protein of 41 kDa isoform X1

    Conserved Domains (1) summary
    cd00158
    Location:157242
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
  3. XM_011516710.3XP_011515012.1  centrosomal protein of 41 kDa isoform X2

    See identical proteins and their annotated locations for XP_011515012.1

    Conserved Domains (1) summary
    cd00158
    Location:135220
    RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
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