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

Gene ID: 57821, updated on 28-Oct-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, Oct 2024]
Expression
Biased expression in testis (RPKM 7.3), kidney (RPKM 1.3) and 7 other tissues See more
Orthologs
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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)

Genotypes

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

Gene LinkOut

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