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 splicin... See more...

Aliases for SEPT5-GP1BB Gene

Subcategory (RNA class) for SEPT5-GP1BB Gene

lncRNA

Aliases for SEPT5-GP1BB Gene

  • SEPT5-GP1BB Readthrough 3
  • CDNA FLJ60582, Highly Similar To Septin-5 13
  • Platelet Glycoprotein Ib Beta Chain 3
  • HCG2002594, Isoform CRA_a 13
  • HCG2002594, Isoform CRA_c 13
  • Antigen CD42b-Beta 3
  • Novel Transcript 5
  • GP-Ib Beta 3
  • AC000093.1 5
  • GPIb-Beta 3
  • Septin-5 13
  • GP1BB 3
  • GPIbB 3

External Ids for SEPT5-GP1BB Gene

Previous GeneCards Identifiers for SEPT5-GP1BB Gene

  • GC22U900737
  • GC22P019704

Summaries for SEPT5-GP1BB Gene

Entrez Gene Summary for SEPT5-GP1BB Gene

  • 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]

GeneCards Summary for SEPT5-GP1BB Gene

SEPT5-GP1BB (SEPT5-GP1BB Readthrough) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SEPT5-GP1BB include Bernard-Soulier Syndrome. An important paralog of this gene is SEPTIN5.

Additional gene information for SEPT5-GP1BB Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPT5-GP1BB Gene

Genomics for SEPT5-GP1BB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEPT5-GP1BB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J019717 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.2 1197 2.8 RNF2 ARHGAP35 CTCF ZBTB33 HNRNPL LEF1 IKZF1 ZNF692 BACH1 TARDBP SEPT5-GP1BB LINC01311 DGCR8 RANBP1 TRMT2A ENSG00000215493 CDC45 ZNF74 UFD1 ABHD17AP4
GH22J019713 Promoter/Enhancer 1.9 EPDnew Ensembl CraniofacialAtlas 600.7 -2.5 -2519 2.6 ARHGAP35 HNRNPL PRDM10 IKZF1 KDM1A MTA2 PHF21A ZIC2 PKNOX1 POLR2A SEPT5-GP1BB SEPTIN5 lnc-GNB1L-1 GP1BB
GH22J019721 Promoter 0.8 EPDnew 600.7 +4.7 4720 0.1 RNF2 ARHGAP35 ZNF24 EZH2 CBX3 ZNF184 EGR1 ZBTB2 HDGF ZBED1 GP1BB SEPT5-GP1BB SEPTIN5
GH22J019723 Promoter 0.6 EPDnew 600.7 +2.9 2893 0.1 HDGF ZKSCAN1 ZBTB33 EZH2 SEPT5-GP1BB GP1BB SEPTIN5
GH22J019720 Promoter 0.5 EPDnew 600.7 +3.6 3582 0.1 EZH2 ARID2 SEPT5-GP1BB GP1BB SEPTIN5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPT5-GP1BB on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for SEPT5-GP1BB Gene

Genomic Locations for SEPT5-GP1BB Gene
chr22:19,717,220-19,724,774
(GRCh38/hg38)
Size:
7,555 bases
Orientation:
Plus strand
chr22:19,704,743-19,712,297
(GRCh37/hg19)
Size:
7,555 bases
Orientation:
Plus strand

Genomic View for SEPT5-GP1BB Gene

Genes around SEPT5-GP1BB on UCSC Golden Path with GeneCards custom track
SEPT5-GP1BB in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
SEPT5-GP1BB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT5-GP1BB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT5-GP1BB Gene

Proteins for SEPT5-GP1BB Gene

  • Protein details for SEPT5-GP1BB Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    B4DJ62-B4DJ62_HUMAN
    Recommended name:
    HCG2002594, isoform CRA_a
    Protein Accession:
    B4DJ62

    Protein attributes for SEPT5-GP1BB Gene

    Size:
    322 amino acids
    Molecular mass:
    37407 Da
    Quaternary structure:
    No Data Available
  • Protein details for SEPT5-GP1BB Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    G3XAH0-G3XAH0_HUMAN
    Recommended name:
    HCG2002594, isoform CRA_c
    Protein Accession:
    G3XAH0

    Protein attributes for SEPT5-GP1BB Gene

    Size:
    378 amino acids
    Molecular mass:
    43845 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SEPT5-GP1BB Gene

Post-translational modifications for SEPT5-GP1BB Gene

No Post-translational modifications

Other Protein References for SEPT5-GP1BB Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for SEPT5-GP1BB Gene

Domains & Families for SEPT5-GP1BB Gene

Gene Families for SEPT5-GP1BB Gene

Unknown:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.

Protein Domains for SEPT5-GP1BB Gene

genes like me logo Genes that share domains with SEPT5-GP1BB: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SEPT5-GP1BB Gene

Function for SEPT5-GP1BB Gene

Phenotypes From GWAS Catalog for SEPT5-GP1BB Gene

Gene Ontology (GO) - Molecular Function for SEPT5-GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SEPT5-GP1BB: view

miRNA for SEPT5-GP1BB Gene

miRTarBase miRNAs that target SEPT5-GP1BB

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPT5-GP1BB Gene

Localization for SEPT5-GP1BB Gene

Gene Ontology (GO) - Cellular Components for SEPT5-GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with SEPT5-GP1BB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for SEPT5-GP1BB Gene

Pathways & Interactions for SEPT5-GP1BB Gene

PathCards logo

SuperPathways for SEPT5-GP1BB Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEPT5-GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017157 regulation of exocytosis IEA --
genes like me logo Genes that share ontologies with SEPT5-GP1BB: view

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for SEPT5-GP1BB Gene

Drugs & Compounds for SEPT5-GP1BB Gene

No Compound Related Data Available

Transcripts for SEPT5-GP1BB Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for SEPT5-GP1BB Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000075A8B7_9606 lncRNA 4671 1

RefSeq: NR_037611,

URS000075AE95_9606 lncRNA 3175 1

RefSeq: NR_037612,

SEPT5-GP1BB in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for SEPT5-GP1BB Gene

6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT5-GP1BB Gene

No ASD Table

Relevant External Links for SEPT5-GP1BB Gene

GeneLoc Exon Structure for
SEPT5-GP1BB

Expression for SEPT5-GP1BB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEPT5-GP1BB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPT5-GP1BB

genes like me logo Genes that share expression patterns with SEPT5-GP1BB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT5-GP1BB Gene

Orthologs for SEPT5-GP1BB Gene

Evolution for SEPT5-GP1BB Gene

ENSEMBL:
Gene Tree for SEPT5-GP1BB (if available)
TreeFam:
Gene Tree for SEPT5-GP1BB (if available)

No data available for Orthologs for SEPT5-GP1BB Gene

Paralogs for SEPT5-GP1BB Gene

genes like me logo Genes that share paralogs with SEPT5-GP1BB: view

Variants for SEPT5-GP1BB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPT5-GP1BB Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
626963 Uncertain Significance: Abnormal bleeding 19,723,949(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
627039 Likely Pathogenic: Thrombocytopenia 19,724,070(+) ACGCGCTGCC/A NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION
627056 Likely Pathogenic: Thrombocytopenia; Macrothrombocytopenia 19,724,238(+) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
627061 Uncertain Significance: Thrombocytopenia 19,724,250(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
627068 Uncertain Significance: Thrombocytopenia 19,724,277(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for SEPT5-GP1BB Gene

Structural Variations from Database of Genomic Variants (DGV) for SEPT5-GP1BB Gene

Variant ID Type Subtype PubMed ID
dgv725n67 CNV gain 20364138
esv22571 CNV loss 19812545
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv953023 CNV deletion 24416366

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for SEPT5-GP1BB Gene

Disorders for SEPT5-GP1BB Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEPT5-GP1BB Gene - From: GeneCards

Disorder Aliases PubMed IDs
bernard-soulier syndrome
  • bss
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPT5-GP1BB

genes like me logo Genes that share disorders with SEPT5-GP1BB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT5-GP1BB Gene

Publications for SEPT5-GP1BB Gene

  1. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 13
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 13
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3
  4. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PMID: 19690332) Mayya V … Han DK (Science signaling 2009) 13
  5. Phosphoproteome of resting human platelets. (PMID: 18088087) Zahedi RP … Sickmann A (Journal of proteome research 2008) 13

No data available for Mastermind for SEPT5-GP1BB Gene

Products for SEPT5-GP1BB Gene

Sources for SEPT5-GP1BB Gene