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    CENPS-CORT CENPS-CORT readthrough [ Homo sapiens (human) ]

    Gene ID: 100526739, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CENPS-CORTprovided by HGNC
    Official Full Name
    CENPS-CORT readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38843
    See related
    Ensembl:ENSG00000251503 AllianceGenome:HGNC:38843
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MHF1; CENPS; APITD1; CENP-S; FAAP16; APITD1-CORT
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in testis (RPKM 17.2), kidney (RPKM 10.2) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CENPS-CORT in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10430433..10452153)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (9974048..9995769)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10490490..10512210)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kinesin family member 1B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10367507-10368007 Neighboring gene MPRA-validated peak67 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:10378039-10378580 Neighboring gene RNA, 7SL, cytoplasmic 731, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 Neighboring gene MPRA-validated peak69 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10437772-10438272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 245 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:10459711-10459887 Neighboring gene MPRA-validated peak70 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10485963-10486568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10486569-10487174 Neighboring gene Sharpr-MPRA regulatory region 15261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10493213-10493793 Neighboring gene phosphogluconate dehydrogenase Neighboring gene centromere protein S Neighboring gene ATAC-STARR-seq lymphoblastoid active region 149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10534116-10535081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 151 Neighboring gene Sharpr-MPRA regulatory region 5895 Neighboring gene cortistatin Neighboring gene DNA fragmentation factor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10568725-10569413 Neighboring gene peroxisomal biogenesis factor 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:10588102-10589301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10601005-10601548 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10616013-10616674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 248 Neighboring gene Sharpr-MPRA regulatory region 3136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10654141-10654658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10654659-10655176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10662571-10663072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10663073-10663572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10675589-10676274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10676275-10676958 Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene

    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. A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours. Krona C, et al. Br J Cancer, 2004 Sep 13. PMID 15328517, Free PMC Article
    2. The Dual Estrogen Receptor α Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. Han SJ, et al. Mol Pharmacol, 2016 Jan. PMID 26487511, Free PMC Article
    3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (6) 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Readthrough CENPS-CORT

    Included genes: CORT, CENPS

    Homology

    Clone Names

    • KIAA0591

    General protein information

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    Preferred Names
    APITD1-CORT protein
    Names
    APITD1-CORT readthrough
    Apoptosis-inducing TAF9-like domain-containing protein 1
    Centromere protein S
    FANCM-associated histone fold protein 1
    FANCM-interacting histone fold protein 1
    Fanconi anemia-associated polypeptide of 16 kDa

    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_001243768.2 → NP_001230697.1  APITD1-CORT protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons and includes an alternate exon in the 5' UTR and coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL139424, AL354956, CF128105
      UniProtKB/TrEMBL
      A0A087WT10
      Related
      ENSP00000473401.2, ENST00000602296.6
      Conserved Domains (2) summary
      pfam03002
      Location:125 → 142
      Somatostatin; Somatostatin/Cortistatin family
      pfam15630
      Location:37 → 71
      CENP-S; Kinetochore component CENP-S

    2. NM_001270517.2 → NP_001257446.1  APITD1-CORT protein isoform 4

      See identical proteins and their annotated locations for NP_001257446.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an additional exon in the center region, compared to variant 1. The resulting isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF521016, AL354956, HY054077
      UniProtKB/Swiss-Prot
      Q8N2Z9, Q8NFE5, Q8NFG5
      Related
      ENSP00000473509.2, ENST00000602787.6
      Conserved Domains (1) summary
      pfam15630
      Location:17 → 92
      CENP-S; CENP-S protein

    3. NM_198544.4 → NP_940946.1  APITD1-CORT protein isoform 1

      See identical proteins and their annotated locations for NP_940946.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1), which shares sequence identity with the products of both the APITD1 and CORT genes.
      Source sequence(s)
      AF521016, AL354956
      UniProtKB/Swiss-Prot
      Q8N2Z9
      Related
      ENSP00000383692.2, ENST00000400900.6
      Conserved Domains (2) summary
      pfam03002
      Location:146 → 163
      Somatostatin; Somatostatin/Cortistatin family
      pfam15630
      Location:17 → 92
      CENP-S; Kinetochore component CENP-S

    4. NM_199006.3 → NP_950171.2  APITD1-CORT protein isoform 2

      See identical proteins and their annotated locations for NP_950171.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, and lacks sequence identity with the product of the CORT gene, compared to isoform 1.
      Source sequence(s)
      AF516753, AF521016, AL354956
      UniProtKB/Swiss-Prot
      Q8N2Z9
      Related
      ENSP00000433615.1, ENST00000470413.6
      Conserved Domains (1) summary
      pfam15630
      Location:17 → 69
      CENP-S; Kinetochore component CENP-S

    RNA

    1. NR_037187.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the 5' coding region, including the start codon, as found in variant 1, and it also contains multiple upstream ORFs that are predicted to inhibit the translation of the longest in-frame ORF.
      Source sequence(s)
      AA858169, AL139424, AL354956

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      10430433..10452153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      9974048..9995769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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