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CCDC175 coiled-coil domain containing 175 [ Homo sapiens (human) ]

Gene ID: 729665, updated on 3-Apr-2024

Summary

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Official Symbol
CCDC175provided by HGNC
Official Full Name
coiled-coil domain containing 175provided by HGNC
Primary source
HGNC:HGNC:19847
See related
Ensembl:ENSG00000151838 AllianceGenome:HGNC:19847
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
C14orf38; c14_5395
Expression
Ubiquitous expression in testis (RPKM 3.9), prostate (RPKM 2.8) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC175 in Genome Data Viewer
Location:
14q23.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59505067..59576812, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53712016..53783773, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59971785..60043530, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8461 Neighboring gene uncharacterized LOC124903326 Neighboring gene G protein-coupled receptor 135 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124167-60124668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124669-60125168 Neighboring gene reticulon 1 Neighboring gene microRNA 5586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5807 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:60386022-60387221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8464 Neighboring gene leucine rich repeat containing 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:60459076-60459307 Neighboring gene PCNX4 divergent transcript

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 impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. Donato L, et al. PLoS One, 2022. PMID 36490268, Free PMC Article
  2. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
  3. Systematic proteomics of endogenous human cohesin reveals an interaction with diverse splicing factors and RNA-binding proteins required for mitotic progression. Kim JS, et al. J Biol Chem, 2019 May 31. PMID 31010829, Free PMC Article
  4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
  5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
    Title: The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Submit: New GeneRIF Correction

Phenotypes

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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

General protein information

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Preferred Names
coiled-coil domain-containing protein 175

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_001164399.2 → NP_001157871.1  coiled-coil domain-containing protein 175

    See identical proteins and their annotated locations for NP_001157871.1

    Status: VALIDATED

    Source sequence(s)
    AL121694
    Consensus CDS
    CCDS53898.1
    UniProtKB/Swiss-Prot
    G3V5J7, P0C221
    UniProtKB/TrEMBL
    A0A0A0MTQ8
    Related
    ENSP00000453940.1, ENST00000537690.7
    Conserved Domains (1) summary
    TIGR02168
    Location:80 → 737
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    59505067..59576812 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537124.4 → XP_011535426.1  coiled-coil domain-containing protein 175 isoform X3

    Conserved Domains (2) summary
    COG1196
    Location:334 → 621
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:66 → 344
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. XM_011537122.4 → XP_011535424.1  coiled-coil domain-containing protein 175 isoform X2

    UniProtKB/TrEMBL
    A0A0A0MTQ8
    Conserved Domains (1) summary
    TIGR02168
    Location:66 → 344
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  3. XM_011537120.4 → XP_011535422.1  coiled-coil domain-containing protein 175 isoform X1

    UniProtKB/TrEMBL
    A0A0A0MTQ8
    Conserved Domains (1) summary
    TIGR02168
    Location:66 → 738
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  4. XM_047431746.1 → XP_047287702.1  coiled-coil domain-containing protein 175 isoform X5

  5. XM_047431747.1 → XP_047287703.1  coiled-coil domain-containing protein 175 isoform X5

  6. XM_047431749.1 → XP_047287705.1  coiled-coil domain-containing protein 175 isoform X7

  7. XM_047431748.1 → XP_047287704.1  coiled-coil domain-containing protein 175 isoform X6

  8. XM_011537125.3 → XP_011535427.1  coiled-coil domain-containing protein 175 isoform X4

    Conserved Domains (1) summary
    TIGR02168
    Location:66 → 592
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  9. XM_047431750.1 → XP_047287706.1  coiled-coil domain-containing protein 175 isoform X8

  10. XM_011537130.3 → XP_011535432.1  coiled-coil domain-containing protein 175 isoform X9

    Conserved Domains (1) summary
    cl25732
    Location:66 → 344
    SMC_N; RecF/RecN/SMC N terminal domain

  11. XM_047431751.1 → XP_047287707.1  coiled-coil domain-containing protein 175 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    53712016..53783773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376681.1 → XP_054232656.1  coiled-coil domain-containing protein 175 isoform X3

  2. XM_054376680.1 → XP_054232655.1  coiled-coil domain-containing protein 175 isoform X2

  3. XM_054376679.1 → XP_054232654.1  coiled-coil domain-containing protein 175 isoform X1

  4. XM_054376683.1 → XP_054232658.1  coiled-coil domain-containing protein 175 isoform X5

  5. XM_054376684.1 → XP_054232659.1  coiled-coil domain-containing protein 175 isoform X5

  6. XM_054376686.1 → XP_054232661.1  coiled-coil domain-containing protein 175 isoform X7

  7. XM_054376685.1 → XP_054232660.1  coiled-coil domain-containing protein 175 isoform X6

  8. XM_054376682.1 → XP_054232657.1  coiled-coil domain-containing protein 175 isoform X4

  9. XM_054376687.1 → XP_054232662.1  coiled-coil domain-containing protein 175 isoform X8

  10. XM_054376688.1 → XP_054232663.1  coiled-coil domain-containing protein 175 isoform X9

  11. XM_054376689.1 → XP_054232664.1  coiled-coil domain-containing protein 175 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0C221.2 GenPept UniProtKB/Swiss-Prot:P0C221

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