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

Gene ID: 729966, updated on 4-Jan-2025

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 AllianceGenome:HGNC:55823
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
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Biased expression in stomach (RPKM 8.1), colon (RPKM 6.4) and 6 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18249950..18255419, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18384034..18389517, complement)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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_2024_08

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

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