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CCDC170 coiled-coil domain containing 170 [ Homo sapiens (human) ]

Gene ID: 80129, updated on 25-Jan-2022

Summary

Official Symbol
CCDC170provided by HGNC
Official Full Name
coiled-coil domain containing 170provided by HGNC
Primary source
HGNC:HGNC:21177
See related
Ensembl:ENSG00000120262 AllianceGenome:HGNC:21177
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
C6orf97; bA282P11.1
Summary
The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
Expression
Broad expression in thyroid (RPKM 3.8), lung (RPKM 3.2) and 20 other tissues See more
Orthologs
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Genomic context

See CCDC170 in Genome Data Viewer
Location:
6q25.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (151494017..151621193)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151815152..151942328)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 15 Neighboring gene required for meiotic nuclear division 1 homolog Neighboring gene acidic residue methyltransferase 1 Neighboring gene uncharacterized LOC107986528 Neighboring gene RNA, U6 small nuclear 813, pseudogene Neighboring gene estrogen receptor 1 Neighboring gene uncharacterized LOC107986529 Neighboring gene Sharpr-MPRA regulatory regions 5277 and 6602

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

EBI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
EBI GWAS Catalog
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
EBI GWAS Catalog
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
EBI GWAS Catalog
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
EBI GWAS Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog
Multiple genetic loci for bone mineral density and fractures.
EBI GWAS Catalog
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
EBI GWAS Catalog
New sequence variants associated with bone mineral density.
EBI GWAS Catalog
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23305

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 170

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.

Genomic

  1. NG_021198.1 RefSeqGene

    Range
    4978..132154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025059.4NP_079335.2  coiled-coil domain-containing protein 170

    See identical proteins and their annotated locations for NP_079335.2

    Status: VALIDATED

    Source sequence(s)
    AK225330, AL359494, AL590543, BC060803, DB232703
    Consensus CDS
    CCDS43515.1
    UniProtKB/Swiss-Prot
    Q8IYT3
    Related
    ENSP00000239374.6, ENST00000239374.8
    Conserved Domains (2) summary
    COG1196
    Location:43650
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00187
    Location:441570
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    151494017..151621193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536148.2XP_011534450.1  coiled-coil domain-containing protein 170 isoform X2

    Conserved Domains (2) summary
    COG1196
    Location:49591
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00187
    Location:380509
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
  2. XM_011536147.2XP_011534449.1  coiled-coil domain-containing protein 170 isoform X1

    Conserved Domains (2) summary
    COG1196
    Location:49656
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00187
    Location:447576
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
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