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    CCDC191 coiled-coil domain containing 191 [ Homo sapiens (human) ]

    Gene ID: 57577, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC191provided by HGNC
    Official Full Name
    coiled-coil domain containing 191provided by HGNC
    Primary source
    HGNC:HGNC:29272
    See related
    Ensembl:ENSG00000163617 AllianceGenome:HGNC:29272
    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
    KIAA1407
    Summary
    Predicted to enable phosphatase binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 4.6), thyroid (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC191 in Genome Data Viewer
    Location:
    3q13.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113964137..114056613, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116685401..116777888, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113682984..113775460, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene GRAM domain containing 1C Neighboring gene CTDNEP1 pseudogene 1 Neighboring gene VPS26A pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:113666278-113666778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14613 Neighboring gene zinc finger DHHC-type palmitoyltransferase 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20265 Neighboring gene ATP5PB pseudogene 8 Neighboring gene uncharacterized LOC105374048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:113777633-113778132 Neighboring gene queuine tRNA-ribosyltransferase accessory subunit 2 Neighboring gene H2B histone pseudogene 3

    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. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198
    2. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. Li S, et al. Immunity, 2011 Sep 23. PMID 21903422, Free PMC Article
    3. Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure. Michael ARM, et al. Nat Commun, 2024 Oct 2. PMID 39358380, Free PMC Article
    4. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    5. DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples. Jiao F, et al. J Proteome Res, 2024 Aug 2. PMID 38334954, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43314

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 191

    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_001353766.3 → NP_001340695.1  coiled-coil domain-containing protein 191 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092896, AC128687
      Conserved Domains (2) summary
      pfam04111
      Location:674 → 773
      APG6; Autophagy protein Apg6
      pfam08457
      Location:738 → 868
      Sfi1; Sfi1 spindle body protein

    2. NM_001353767.2 → NP_001340696.2  coiled-coil domain-containing protein 191 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092896, AC128687, AF509494
      Conserved Domains (2) summary
      pfam04111
      Location:665 → 764
      APG6; Autophagy protein Apg6
      pfam08457
      Location:723 → 859
      Sfi1; Sfi1 spindle body protein

    3. NM_020817.2 → NP_065868.1  coiled-coil domain-containing protein 191 isoform 1

      See identical proteins and their annotated locations for NP_065868.1

      Status: VALIDATED

      Source sequence(s)
      AC092896, AC128687
      Consensus CDS
      CCDS2977.1
      UniProtKB/Swiss-Prot
      B4DYL1, Q8NCU4, Q9P2E0
      Related
      ENSP00000295878.3, ENST00000295878.8
      Conserved Domains (2) summary
      pfam04111
      Location:687 → 786
      APG6; Autophagy protein Apg6
      pfam08457
      Location:751 → 881
      Sfi1; Sfi1 spindle body protein

    RNA

    1. NR_148531.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092896, AC128687

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      113964137..114056613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513052.3 → XP_011511354.1  coiled-coil domain-containing protein 191 isoform X2

      Conserved Domains (2) summary
      pfam04111
      Location:625 → 724
      APG6; Autophagy protein Apg6
      pfam08457
      Location:689 → 819
      Sfi1; Sfi1 spindle body protein

    2. XM_011513054.3 → XP_011511356.1  coiled-coil domain-containing protein 191 isoform X3

      See identical proteins and their annotated locations for XP_011511356.1

      Conserved Domains (2) summary
      pfam04111
      Location:602 → 701
      APG6; Autophagy protein Apg6
      pfam08457
      Location:666 → 796
      Sfi1; Sfi1 spindle body protein

    3. XM_047448643.1 → XP_047304599.1  coiled-coil domain-containing protein 191 isoform X3

    4. XM_047448641.1 → XP_047304597.1  coiled-coil domain-containing protein 191 isoform X1

    5. XM_017006957.1 → XP_016862446.1  coiled-coil domain-containing protein 191 isoform X3

      Conserved Domains (2) summary
      pfam04111
      Location:602 → 701
      APG6; Autophagy protein Apg6
      pfam08457
      Location:666 → 796
      Sfi1; Sfi1 spindle body protein

    6. XM_047448642.1 → XP_047304598.1  coiled-coil domain-containing protein 191 isoform X3

    7. XM_005247681.3 → XP_005247738.1  coiled-coil domain-containing protein 191 isoform X4

      Conserved Domains (2) summary
      pfam08457
      Location:430 → 560
      Sfi1; Sfi1 spindle body protein
      pfam09756
      Location:366 → 437
      DDRGK; DDRGK domain

    8. XM_017006959.2 → XP_016862448.1  coiled-coil domain-containing protein 191 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      116685401..116777888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347397.1 → XP_054203372.1  coiled-coil domain-containing protein 191 isoform X2

    2. XM_054347400.1 → XP_054203375.1  coiled-coil domain-containing protein 191 isoform X3

    3. XM_054347401.1 → XP_054203376.1  coiled-coil domain-containing protein 191 isoform X3

    4. XM_054347396.1 → XP_054203371.1  coiled-coil domain-containing protein 191 isoform X1

    5. XM_054347399.1 → XP_054203374.1  coiled-coil domain-containing protein 191 isoform X3

    6. XM_054347398.1 → XP_054203373.1  coiled-coil domain-containing protein 191 isoform X3

    7. XM_054347402.1 → XP_054203377.1  coiled-coil domain-containing protein 191 isoform X4

    8. XM_054347403.1 → XP_054203378.1  coiled-coil domain-containing protein 191 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCU4.1 GenPept UniProtKB/Swiss-Prot:Q8NCU4

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