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    CIST1 colon, intestine and stomach enriched 1 [ Homo sapiens (human) ]

    Gene ID: 729966, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CIST1provided by HGNC
    Official Full Name
    colon, intestine and stomach enriched 1provided by HGNC
    Primary source
    HGNC:HGNC:55823
    See related
    Ensembl:ENSG00000284797
    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
    Expression
    Biased expression in stomach (RPKM 8.1), colon (RPKM 6.4) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIST1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18249950..18255419, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18384034..18389517, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18360760..18366229, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPV17 mitochondrial inner membrane protein like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18314094-18314876 Neighboring gene Sharpr-MPRA regulatory region 13953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14306 Neighboring gene uncharacterized LOC102725254 Neighboring gene RAB3A, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10379 Neighboring gene phosphodiesterase 4C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:18330099-18331298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18342361-18343052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18359151-18360054 Neighboring gene IQ motif containing N Neighboring gene Sharpr-MPRA regulatory region 4774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10383 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18391566-18392417 Neighboring gene JunD proto-oncogene, AP-1 transcription factor subunit

    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. Overexpression of long non-coding RNA NR_036575.1 contributes to the proliferation and migration of papillary thyroid cancer. Sun W, et al. Med Oncol, 2016 Sep. PMID 27510368
    2. Genome-wide analysis of long noncoding RNA expression profile in papillary thyroid carcinoma. Lan X, et al. Gene, 2015 Sep 10. PMID 26003293
    3. Discovery of eight novel divergent homologs expressed in cattle placenta. Larson JH, et al. Physiol Genomics, 2006 May 16. PMID 16554549
    4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    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

    General gene information

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    Readthrough PDE4C

    Readthrough gene: PDE4C

    Homology

    General protein information

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    Preferred Names
    uncharacterized LOC729966

    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_001396036.2 → NP_001382965.1  uncharacterized LOC729966 precursor

      Status: VALIDATED

      Source sequence(s)
      AC008397
      Consensus CDS
      CCDS92568.1
      UniProtKB/Swiss-Prot
      A0A2R8Y7Y5
      Related
      ENSP00000496487.1, ENST00000643046.2
      Conserved Domains (2) summary
      PRK11907
      Location:31 → 114
      PRK11907; bifunctional 2',3'-cyclic-nucleotide 2'-phosphodiesterase/3'-nucleotidase
      cl10080
      Location:81 → 152
      RPE65; Retinal pigment epithelial membrane protein

    RNA

    1. NR_036575.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008397
      Related
      ENST00000596647.1

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      18249950..18255419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18384034..18389517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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