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CCDC141 coiled-coil domain containing 141 [ Homo sapiens (human) ]

Gene ID: 285025, updated on 11-Jun-2021

Summary

Official Symbol
CCDC141provided by HGNC
Official Full Name
coiled-coil domain containing 141provided by HGNC
Primary source
HGNC:HGNC:26821
See related
Ensembl:ENSG00000163492 MIM:616031
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAMDI
Expression
Biased expression in heart (RPKM 4.9), lung (RPKM 0.5) and 4 other tissues See more
Orthologs
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Genomic context

See CCDC141 in Genome Data Viewer
Location:
2q31.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (178825308..179050137, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179694484..179914864, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene TTN antisense RNA 1 Neighboring gene titin Neighboring gene uncharacterized LOC101927055 Neighboring gene RNA, U7 small nuclear 104 pseudogene Neighboring gene uncharacterized LOC105373766 Neighboring gene ribosomal protein S6 pseudogene 2 Neighboring gene SEC14 and spectrin domain containing 1 Neighboring gene RAD52 pseudogene 1

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
GeneReviews: Not available
Hypogonadotropic hypogonadism 7 with or without anosmia Compare labs
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26337, FLJ39502, MGC134803, DKFZp686G197

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 centrosome localization IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebral cortex radially oriented cell migration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001316745.2NP_001303674.1  coiled-coil domain-containing protein 141 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, lacks multiple exons in the 3' coding region and its transcription extends past a splice site compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC092640, AC093792, AL832777
    Consensus CDS
    CCDS82538.1
    UniProtKB/TrEMBL
    B8ZZB3
    Related
    ENSP00000386503.1, ENST00000409284.1
    Conserved Domains (1) summary
    cl02488
    Location:132356
    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; ...
  2. NM_173648.4NP_775919.3  coiled-coil domain-containing protein 141 isoform 1

    See identical proteins and their annotated locations for NP_775919.3

    Status: VALIDATED

    Source sequence(s)
    AC023270, AC092640, AC093792, AK096821, AL832777, BC115378
    UniProtKB/Swiss-Prot
    Q6ZP82
    Related
    ENSP00000390190.2, ENST00000443758.6
    Conserved Domains (4) summary
    pfam07679
    Location:14091498
    I-set; Immunoglobulin I-set domain
    TIGR02168
    Location:221846
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl02488
    Location:132356
    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; ...
    cl11960
    Location:14251498
    Ig; Immunoglobulin domain

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    178825308..179050137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510993.3XP_011509295.1  coiled-coil domain-containing protein 141 isoform X5

    Conserved Domains (2) summary
    COG0419
    Location:98744
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00176
    Location:132356
    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; ...
  2. XM_017003867.2XP_016859356.1  coiled-coil domain-containing protein 141 isoform X2

  3. XM_017003868.2XP_016859357.1  coiled-coil domain-containing protein 141 isoform X4

  4. XM_011510992.3XP_011509294.1  coiled-coil domain-containing protein 141 isoform X3

    Conserved Domains (2) summary
    cd00176
    Location:132356
    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:221846
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  5. XM_017003869.2XP_016859358.1  coiled-coil domain-containing protein 141 isoform X6

  6. XM_017003870.2XP_016859359.1  coiled-coil domain-containing protein 141 isoform X7

  7. XM_011510991.3XP_011509293.1  coiled-coil domain-containing protein 141 isoform X1

    Conserved Domains (2) summary
    cd00176
    Location:132356
    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:221846
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  8. XM_017003871.1XP_016859360.1  coiled-coil domain-containing protein 141 isoform X8

    Related
    ENSP00000344627.2, ENST00000343876.6

RNA

  1. XR_001738715.2 RNA Sequence

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