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Ccdc141 coiled-coil domain containing 141 [ Mus musculus (house mouse) ]

Gene ID: 545428, updated on 2-Nov-2024

Summary

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Official Symbol
Ccdc141provided by MGI
Official Full Name
coiled-coil domain containing 141provided by MGI
Primary source
MGI:MGI:1919735
See related
Ensembl:ENSMUSG00000044033 AllianceGenome:MGI:1919735
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
CAMDI; 2610301F02Rik
Summary
Involved in brain development. Acts upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Located in centrosome and cytoplasm. Is expressed in several structures, including brain; foregut; reproductive system; respiratory system; and trigeminal nerve. Orthologous to human CCDC141 (coiled-coil domain containing 141). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in heart adult (RPKM 8.9), lung adult (RPKM 4.1) and 19 other tissues See more
Orthologs
human all
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Genomic context

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See Ccdc141 in Genome Data Viewer
Location:
2 C3; 2 45.38 cM
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (76840246..77006424, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (77009902..77173769, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04894 Neighboring gene pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 Neighboring gene predicted gene, 57692 Neighboring gene titin Neighboring gene STARR-seq mESC enhancer starr_04895 Neighboring gene STARR-seq mESC enhancer starr_04897 Neighboring gene STARR-seq mESC enhancer starr_04899 Neighboring gene STARR-seq mESC enhancer starr_04900 Neighboring gene STARR-seq mESC enhancer starr_04901 Neighboring gene predicted gene, 39861 Neighboring gene SEC14 and spectrin domains 1 Neighboring gene nucleophosmin 1 pseudogene Neighboring gene predicted gene, 35266

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Oscillation of Cdc20-APC/C-mediated CAMDI stability is critical for cortical neuron migration. Okuda S, et al. J Biol Chem, 2021 Aug. PMID 34298015, Free PMC Article
  2. CAMDI interacts with the human memory-associated protein KIBRA and regulates AMPAR cell surface expression and cognition. Fukuda T, et al. PLoS One, 2019. PMID 31730661, Free PMC Article
  3. Rescue of CAMDI deletion-induced delayed radial migration and psychiatric behaviors by HDAC6 inhibitor. Fukuda T, et al. EMBO Rep, 2016 Dec. PMID 27737934, Free PMC Article
  4. CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. Hutchins BI, et al. Endocrinology, 2016 May. PMID 27014940, Free PMC Article
  5. CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration. Fukuda T, et al. J Biol Chem, 2010 Dec 24. PMID 20956536, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Oscillation of Cdc20-APC/C-mediated CAMDI stability is critical for cortical neuron migration.
    Title: Oscillation of Cdc20-APC/C-mediated CAMDI stability is critical for cortical neuron migration.
  2. KIBRA inhibited CAMDI-dependent Rab11 activation, thereby attenuating AMPAR cell surface expression.
    Title: CAMDI interacts with the human memory-associated protein KIBRA and regulates AMPAR cell surface expression and cognition.
  3. findings showed that CAMDI regulates neuronal migration through the modulation of HDAC6 and indicate that HDAC6 hyperactivation by CAMDI deletion causes psychiatric behaviors, at least in part, through delayed radial migration due to impaired centrosomes
    Title: Rescue of CAMDI deletion-induced delayed radial migration and psychiatric behaviors by HDAC6 inhibitor.
  4. Ccdc141 is expressed in GnRH neurons and olfactory fibers during embryonic development and that knockdown of Ccdc141 reduces GnRH neuronal migration.
    Title: CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.
  5. CAMDI is required for radial migration probably through DISC1 and myosin II-mediated centrosome positioning during neuronal development.
    Title: CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (4)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within centrosome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cerebral cortex radially oriented cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 141
Names
coiled-coil protein associated with myosin II and DISC1

NCBI Reference Sequences (RefSeq)

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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_001025576.3 → NP_001020747.2  coiled-coil domain-containing protein 141

    See identical proteins and their annotated locations for NP_001020747.2

    Status: VALIDATED

    Source sequence(s)
    AK045498, AK053175, AK084521, AL928681, BB637559
    Consensus CDS
    CCDS38155.2
    UniProtKB/Swiss-Prot
    A2AST1, E9Q8Q6
    Related
    ENSMUSP00000128736.3, ENSMUST00000164114.9
    Conserved Domains (4) summary
    TIGR00618
    Location:219 → 790
    sbcc; exonuclease SbcC
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02169
    Location:712 → 999
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam07679
    Location:1410 → 1499
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    76840246..77006424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006499911.5 → XP_006499974.1  coiled-coil domain-containing protein 141 isoform X1

    See identical proteins and their annotated locations for XP_006499974.1

    UniProtKB/Swiss-Prot
    A2AST1, E9Q8Q6
    Conserved Domains (4) summary
    TIGR00618
    Location:219 → 790
    sbcc; exonuclease SbcC
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02169
    Location:712 → 999
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam07679
    Location:1410 → 1499
    I-set; Immunoglobulin I-set domain

  2. XM_006499914.5 → XP_006499977.1  coiled-coil domain-containing protein 141 isoform X1

    See identical proteins and their annotated locations for XP_006499977.1

    UniProtKB/Swiss-Prot
    A2AST1, E9Q8Q6
    Conserved Domains (4) summary
    TIGR00618
    Location:219 → 790
    sbcc; exonuclease SbcC
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02169
    Location:712 → 999
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam07679
    Location:1410 → 1499
    I-set; Immunoglobulin I-set domain

  3. XM_006499916.5 → XP_006499979.1  coiled-coil domain-containing protein 141 isoform X4

    Conserved Domains (3) summary
    COG1340
    Location:800 → 1057
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    TIGR02168
    Location:79 → 902
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07679
    Location:1345 → 1434
    I-set; Immunoglobulin I-set domain

  4. XM_036162401.1 → XP_036018294.1  coiled-coil domain-containing protein 141 isoform X5

    Conserved Domains (5) summary
    COG1196
    Location:158 → 890
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1340
    Location:763 → 1020
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:1308 → 1397
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:1308 → 1310
    Ig; Ig strand A [structural motif]

  5. XM_036162399.1 → XP_036018292.1  coiled-coil domain-containing protein 141 isoform X2

    Conserved Domains (6) summary
    COG1196
    Location:693 → 950
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG1340
    Location:823 → 1080
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    PRK03918
    Location:369 → 949
    PRK03918; DNA double-strand break repair ATPase Rad50
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:1368 → 1457
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:1368 → 1370
    Ig; Ig strand A [structural motif]

  6. XM_036162400.1 → XP_036018293.1  coiled-coil domain-containing protein 141 isoform X3

    Conserved Domains (5) summary
    TIGR00618
    Location:219 → 790
    sbcc; exonuclease SbcC
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:716 → 1067
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07679
    Location:1360 → 1449
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:1360 → 1362
    Ig; Ig strand A [structural motif]

  7. XM_006499913.5 → XP_006499976.1  coiled-coil domain-containing protein 141 isoform X1

    See identical proteins and their annotated locations for XP_006499976.1

    UniProtKB/Swiss-Prot
    A2AST1, E9Q8Q6
    Conserved Domains (4) summary
    TIGR00618
    Location:219 → 790
    sbcc; exonuclease SbcC
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02169
    Location:712 → 999
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam07679
    Location:1410 → 1499
    I-set; Immunoglobulin I-set domain

  8. XM_006499912.4 → XP_006499975.1  coiled-coil domain-containing protein 141 isoform X1

    See identical proteins and their annotated locations for XP_006499975.1

    UniProtKB/Swiss-Prot
    A2AST1, E9Q8Q6
    Conserved Domains (4) summary
    TIGR00618
    Location:219 → 790
    sbcc; exonuclease SbcC
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02169
    Location:712 → 999
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam07679
    Location:1410 → 1499
    I-set; Immunoglobulin I-set domain

  9. XM_036162402.1 → XP_036018295.1  coiled-coil domain-containing protein 141 isoform X7

    Conserved Domains (3) summary
    TIGR02169
    Location:282 → 569
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam07679
    Location:980 → 1069
    I-set; Immunoglobulin I-set domain
    cd00096
    Location:980 → 982
    Ig; Ig strand A [structural motif]

  10. XM_006499917.5 → XP_006499980.1  coiled-coil domain-containing protein 141 isoform X6

    Conserved Domains (2) summary
    TIGR02169
    Location:712 → 999
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    cl02488
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  11. XM_017319133.3 → XP_017174622.1  coiled-coil domain-containing protein 141 isoform X8

    UniProtKB/TrEMBL
    Q8BLD3
    Conserved Domains (1) summary
    cd00176
    Location:132 → 356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RNA

  1. XR_001783148.3 RNA Sequence

  2. XR_003953673.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9Q8Q6.2 GenPept UniProtKB/Swiss-Prot:E9Q8Q6

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