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SEPT5-GP1BB SEPT5-GP1BB readthrough [ Homo sapiens (human) ]

Gene ID: 100526833, updated on 17-Jun-2024

Summary

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Gene symbol
SEPT5-GP1BB
Gene description
SEPT5-GP1BB readthrough
See related
Ensembl:ENSG00000284874
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GP1BB; GPIbB; GPIb-beta
Summary
This locus represents naturally occurring read-through transcription between the neighboring SEPT5 (septin 5) and GP1BB (glycoprotein Ib (platelet), beta polypeptide) genes on chromosome 22. This read-through transcription arises from inefficient use of an imperfect polyA signal in the upstream SEPT5 gene, whereby transcription continues into the GP1BB gene. Alternative splicing results in multiple read-through variants. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD), and are therefore unlikely to produce protein products. [provided by RefSeq, Dec 2010]
Expression
Biased expression in brain (RPKM 53.2), heart (RPKM 21.4) and 11 other tissues See more
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Genomic context

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See SEPT5-GP1BB in Genome Data Viewer
Location:
22q11.21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19717220..19724774)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20094011..20101565)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19704743..19712297)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100420103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19654543-19655394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19655395-19656244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19675661-19676509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19679492-19680051 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19692588-19693325 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19693326-19694062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19696168-19696675 Neighboring gene uncharacterized LOC124905079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19704678-19705319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19705320-19705960 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19705962-19706132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706308-19706808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706809-19707309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19710387-19711165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19711166-19711943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19713539-19714114 Neighboring gene septin 5 Neighboring gene uncharacterized LOC105372861 Neighboring gene Sharpr-MPRA regulatory region 13949 Neighboring gene glycoprotein Ib platelet subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19730021-19730596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19730597-19731170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19734624-19735124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19744621-19745499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19745779-19746288 Neighboring gene VISTA enhancer hs515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19750215-19751157 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19758419-19758590 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19764062-19764563 Neighboring gene T-box transcription factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19771036-19771536 Neighboring gene G protein subunit beta 1 like

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 phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation. Peter B, et al. Am J Med Genet A, 2021 May. PMID 33569883
  2. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. Kelly MD, et al. J Clin Invest, 1994 Jun. PMID 8200976, Free PMC Article
  3. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. Yagi M, et al. J Biol Chem, 1994 Jul 1. PMID 8021244
  4. Structure and expression of the human septin gene HCDCREL-1. Yagi M, et al. Gene, 1998 Jun 8. PMID 9611266
  5. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. Zieger B, et al. J Clin Invest, 1997 Feb 1. PMID 9022087, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
    Title: A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
Submit: New GeneRIF Correction

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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Markers

Other Names

  • Antigen CD42b-beta
  • GP-Ib beta
  • Platelet glycoprotein Ib beta chain

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.

RNA

  1. NR_037611.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AB209168, AC000093
    Related
    ENST00000455843.5

  2. NR_037612.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' terminal exon, resulting in a shorter transcript, compared to variant 1.
    Source sequence(s)
    AC000093, U59632
    Related
    ENST00000431044.5

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    19717220..19724774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20094011..20101565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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