Format

Send to:

Choose Destination

CEP41 centrosomal protein 41 [ Homo sapiens (human) ]

Gene ID: 95681, updated on 8-Jul-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CEP41 in Genome Data Viewer
Location:
7q32.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (130393771..130441057, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130033612..130080857, 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 PubChem

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein polyglutamylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in 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)

NEW Try the new Transcript table

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
    5195..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
    ENSP00000501735.1, ENST00000675596.1
    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_001257159.2NP_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
    ENSP00000502478.1, ENST00000675962.1
    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 Updated Annotation Release 109.20210514

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..130441057 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

    Related
    ENSP00000502477.1, ENST00000675803.1
    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 ...
Support Center