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    CCDC181 coiled-coil domain containing 181 [ Homo sapiens (human) ]

    Gene ID: 57821, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCDC181provided by HGNC
    Official Full Name
    coiled-coil domain containing 181provided by HGNC
    Primary source
    HGNC:HGNC:28051
    See related
    Ensembl:ENSG00000117477 MIM:620891; AllianceGenome:HGNC:28051
    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
    C1orf114
    Summary
    Predicted to enable microtubule binding activity. Predicted to be located in manchette and sperm flagellum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 7.3), kidney (RPKM 1.3) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC181 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169394870..169460669, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168750193..168816015, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169364108..169429907, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169074345-169074918 Neighboring gene Sharpr-MPRA regulatory region 5967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169076065-169076637 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:169082217-169083416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169085415-169086034 Neighboring gene ATPase Na+/K+ transporting subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2070 Neighboring gene NME/NM23 family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr1:169185155-169185723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169225944-169226549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169226550-169227154 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1546 Neighboring gene Sharpr-MPRA regulatory region 5964 Neighboring gene solute carrier family 19 member 2 Neighboring gene MPRA-validated peak447 silencer Neighboring gene MPRA-validated peak448 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1250 Neighboring gene MPRA-validated peak449 silencer Neighboring gene Sharpr-MPRA regulatory region 2803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555193-169555694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555695-169556194 Neighboring gene coagulation factor V

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. DNA methylation signatures for prediction of biochemical recurrence after radical prostatectomy of clinically localized prostate cancer. Haldrup C, et al. J Clin Oncol, 2013 Sep 10. PMID 23918943
    2. Ccdc181 is a microtubule-binding protein that interacts with Hook1 in haploid male germ cells and localizes to the sperm tail and motile cilia. Schwarz T, et al. Eur J Cell Biol, 2017 May. PMID 28283191, Free PMC Article
    3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article
    4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    5. Functional proteomics mapping of a human signaling pathway. Colland F, et al. Genome Res, 2004 Jul. PMID 15231748, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High C1orf114 methylation was associated with biochemical recurrence in prostate cancer.
      Title: DNA methylation signatures for prediction of biochemical recurrence after radical prostatectomy of clinically localized prostate cancer.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25846

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in manchette ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 181

    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_001300968.1 → NP_001287897.1  coiled-coil domain-containing protein 181 isoform a

      See identical proteins and their annotated locations for NP_001287897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (a). Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK313598, AL049687, BG206257
      Consensus CDS
      CCDS1279.1
      UniProtKB/TrEMBL
      B2R917
      Related
      ENSP00000442297.1, ENST00000545005.5
      Conserved Domains (1) summary
      pfam13904
      Location:338 → 460
      DUF4207; Domain of unknown function (DUF4207)

    2. NM_001300969.2 → NP_001287898.1  coiled-coil domain-containing protein 181 isoform b

      See identical proteins and their annotated locations for NP_001287898.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AK223354, AL049687, BC026073, BG206257
      Consensus CDS
      CCDS72979.1
      UniProtKB/Swiss-Prot
      O60780, Q53FD5, Q5TID7, Q5TID9, Q8TC48
      UniProtKB/TrEMBL
      B2R917
      Related
      ENSP00000356780.3, ENST00000367806.8
      Conserved Domains (1) summary
      pfam17380
      Location:338 → 500
      DUF5401; Family of unknown function (DUF5401)

    3. NM_001394007.1 → NP_001380936.1  coiled-coil domain-containing protein 181 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL021068
      Consensus CDS
      CCDS72979.1
      UniProtKB/Swiss-Prot
      O60780, Q53FD5, Q5TID7, Q5TID9, Q8TC48
      UniProtKB/TrEMBL
      B2R917
      Conserved Domains (1) summary
      pfam17380
      Location:338 → 500
      DUF5401; Family of unknown function (DUF5401)

    4. NM_001394008.1 → NP_001380937.1  coiled-coil domain-containing protein 181 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL021068
      Consensus CDS
      CCDS1279.1
      UniProtKB/TrEMBL
      B2R917

    5. NM_001394009.1 → NP_001380938.1  coiled-coil domain-containing protein 181 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL021068
      UniProtKB/TrEMBL
      X6RJ50
      Related
      ENST00000491570.2

    6. NM_021179.3 → NP_067002.1  coiled-coil domain-containing protein 181 isoform a

      See identical proteins and their annotated locations for NP_067002.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL049687, BC026073, BG206257
      Consensus CDS
      CCDS1279.1
      UniProtKB/TrEMBL
      B2R917
      Related
      ENSP00000356779.3, ENST00000367805.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      169394870..169460669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245383.1 → XP_005245440.1  coiled-coil domain-containing protein 181 isoform X1

      See identical proteins and their annotated locations for XP_005245440.1

      UniProtKB/Swiss-Prot
      O60780, Q53FD5, Q5TID7, Q5TID9, Q8TC48
      UniProtKB/TrEMBL
      B2R917
      Conserved Domains (1) summary
      pfam17380
      Location:338 → 500
      DUF5401; Family of unknown function (DUF5401)

    2. XM_017001938.2 → XP_016857427.1  coiled-coil domain-containing protein 181 isoform X1

      UniProtKB/Swiss-Prot
      O60780, Q53FD5, Q5TID7, Q5TID9, Q8TC48
      UniProtKB/TrEMBL
      B2R917
      Conserved Domains (1) summary
      pfam17380
      Location:338 → 500
      DUF5401; Family of unknown function (DUF5401)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      168750193..168816015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337933.1 → XP_054193908.1  coiled-coil domain-containing protein 181 isoform X1

    2. XM_054337932.1 → XP_054193907.1  coiled-coil domain-containing protein 181 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TID7.1 GenPept UniProtKB/Swiss-Prot:Q5TID7

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