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

Summary

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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

D2Mit246 (e-PCR), detects polymorphism
- UniSTS:129125

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

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)

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

76840246..77006424 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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]
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]
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]
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
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
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]
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; ...
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; ...