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

Gene ID: 57577, updated on 3-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 4.6), thyroid (RPKM 3.5) and 25 other tissues See more
Orthologs
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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 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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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)

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

  • FLJ43314

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatase binding IBA
Inferred from Biological aspect of Ancestor
more info
  

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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