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

Gene ID: 256309, updated on 3-Apr-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
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Genomic context

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Location:
4q35.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185445182..185471733, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188788463..188815286, complement)
105.20220307 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
  • 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_2023_10

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

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

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

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

    UniProtKB/TrEMBL
    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

Gene LinkOut

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