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

Gene ID: 100526739, updated on 8-Mar-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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Location:
1p36.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10430433..10452153)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (9974048..9995769)
105.20220307 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)

Genotypes

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_2023_10

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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