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    CCDC110 coiled-coil domain containing 110 [ Homo sapiens (human) ]

    Gene ID: 256309, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC110provided by HGNC
    Official Full Name
    coiled-coil domain containing 110provided by HGNC
    Primary source
    HGNC:HGNC:28504
    See related
    Ensembl:ENSG00000168491 MIM:609488; AllianceGenome:HGNC:28504
    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
    CT52; KMHN1; KM-HN-1
    Summary
    Predicted to be located in nucleus. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 45.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC110 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185445182..185471733, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188788463..188815286, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186366336..186392887, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sorting nexin 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene LRP2 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22261 Neighboring gene ankyrin repeat domain 37 Neighboring gene Sharpr-MPRA regulatory region 8879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15856 Neighboring gene cilia and flagella associated protein 96 Neighboring gene UFM1 specific peptidase 2 Neighboring gene uncharacterized LOC105377590 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:186401399-186401900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186423455-186423954 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186480278-186481124 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186481125-186481969 Neighboring gene PDZ and LIM domain 3 Neighboring gene VISTA enhancer hs2502 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186508176-186509375 Neighboring gene SORBS2 antisense RNA 1 Neighboring gene sorbin and SH3 domain containing 2

    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. The centrosomal localization of KM-HN-1 (MGC33607) depends on the leucine zipper motif and the C-terminal coiled-coil domain. Park HJ, et al. Exp Mol Med, 2007 Dec 31. PMID 18160854
    2. Identification of a novel human cancer/testis antigen, KM-HN-1, recognized by cellular and humoral immune responses. Monji M, et al. Clin Cancer Res, 2004 Sep 15. PMID 15447989
    3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KM-HN-1 is a novel human cancer/testis antigen recognized by cellular and humoral immune responses
      Title: Identification of a novel human cancer/testis antigen, KM-HN-1, recognized by cellular and humoral immune responses.
    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

    • MGC33607

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 110
    Names
    cancer/testis antigen 52
    cancer/testis antigen KM-HN-1

    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_001145411.2 → NP_001138883.1  coiled-coil domain-containing protein 110 isoform b

      See identical proteins and their annotated locations for NP_001138883.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform b) is shorter compared to isoform a.
      Source sequence(s)
      AC106897
      Consensus CDS
      CCDS47170.1
      UniProtKB/TrEMBL
      B4DZA2
      Related
      ENSP00000377172.3, ENST00000393540.7
      Conserved Domains (1) summary
      cl25732
      Location:399 → 734
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_152775.4 → NP_689988.1  coiled-coil domain-containing protein 110 isoform a

      See identical proteins and their annotated locations for NP_689988.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC106897
      Consensus CDS
      CCDS3843.1
      UniProtKB/Swiss-Prot
      Q86YI9, Q8N7W0, Q8TBZ0
      UniProtKB/TrEMBL
      B4DZA2
      Related
      ENSP00000306776.3, ENST00000307588.8
      Conserved Domains (1) summary
      cl25732
      Location:436 → 771
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      185445182..185471733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714172.3 → XP_006714235.1  coiled-coil domain-containing protein 110 isoform X3

      UniProtKB/TrEMBL
      A0A494C037
      Conserved Domains (1) summary
      pfam09728
      Location:441 → 739
      Taxilin; Myosin-like coiled-coil protein

    2. XM_011531827.3 → XP_011530129.1  coiled-coil domain-containing protein 110 isoform X1

      UniProtKB/TrEMBL
      B4DZA2
      Conserved Domains (1) summary
      pfam09728
      Location:441 → 739
      Taxilin; Myosin-like coiled-coil protein

    3. XM_011531828.3 → XP_011530130.1  coiled-coil domain-containing protein 110 isoform X2

      UniProtKB/TrEMBL
      B4DZA2
      Conserved Domains (1) summary
      pfam09728
      Location:421 → 719
      Taxilin; Myosin-like coiled-coil protein

    4. XM_005262891.4 → XP_005262948.1  coiled-coil domain-containing protein 110 isoform X4

      UniProtKB/TrEMBL
      A0A494C037, B4DZA2, E7EUS2
      Related
      ENSP00000427246.1, ENST00000510617.5
      Conserved Domains (1) summary
      pfam09728
      Location:441 → 739
      Taxilin; Myosin-like coiled-coil protein

    RNA

    1. XR_427540.4 RNA Sequence

      Related
      ENST00000651260.1

    2. XR_002959722.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188788463..188815286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349561.1 → XP_054205536.1  coiled-coil domain-containing protein 110 isoform X3

      UniProtKB/TrEMBL
      A0A494C037

    2. XM_054349559.1 → XP_054205534.1  coiled-coil domain-containing protein 110 isoform X1

      UniProtKB/TrEMBL
      B4DZA2

    3. XM_054349560.1 → XP_054205535.1  coiled-coil domain-containing protein 110 isoform X2

      UniProtKB/TrEMBL
      B4DZA2

    4. XM_054349562.1 → XP_054205537.1  coiled-coil domain-containing protein 110 isoform X4

      UniProtKB/TrEMBL
      A0A494C037, B4DZA2, E7EUS2

    RNA

    1. XR_008486962.1 RNA Sequence

    2. XR_008486961.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBZ0.1 GenPept UniProtKB/Swiss-Prot:Q8TBZ0

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