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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
External Ids for SEPT5-GP1BB Gene
- Entrez Gene: 100526833
- Ensembl: ENSG00000284874
- UniProtKB: B4DJ62
- UniProtKB: G3XAH0
Previous GeneCards Identifiers for SEPT5-GP1BB Gene
- GC22U900737
- GC22P019704
Summaries 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
- Entrez Gene(100526833)
- Ensembl(ENSG00000284874)
- UniProtKB(B4DJ62)
- UniProtKB(G3XAH0)
- Open Targets Platform(ENSG00000284874)
- Search for SEPT5-GP1BB at DataMed
- Search for SEPT5-GP1BB at HumanCyc
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:
-
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
SEPT5-GP1BB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Post-translational modifications for SEPT5-GP1BB Gene
No Post-translational modifications
Other Protein References for SEPT5-GP1BB Gene
- ENSEMBL proteins:
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SEPT5-GP1BB
- Origene Custom Protein Services for SEPT5-GP1BB
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
- InterPro:
- ProtoNet:
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005525 | GTP binding | IEA | -- |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Browse CRISPR knockouts for SEPT5-GP1BB
miRNA for SEPT5-GP1BB Gene
- miRTarBase miRNAs that target SEPT5-GP1BB
miRNA Products
Inhibitory RNA Products
Clone Products
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008021 | synaptic vesicle | IEA | -- |
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
No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for SEPT5-GP1BB Gene
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 :
-
- ENST00000431044 3173 nts (view in UCSC)
- ENST00000455843 4113 nts (view in UCSC)
CRISPR Products
- Browse CRISPR knockouts for SEPT5-GP1BB
miRNA Products
Inhibitory RNA Products
Clone Products
Relevant External Links for SEPT5-GP1BB Gene
- GeneLoc Exon Structure for
- SEPT5-GP1BB
Expression for SEPT5-GP1BB Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPT5-GP1BB
Primer Products
Gene Expression Assay Products
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
No data available for Orthologs for SEPT5-GP1BB Gene
Paralogs for SEPT5-GP1BB Gene
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 |
| 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 |
SNP Genotyping and Copy Number Assay Products
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bernard-soulier syndrome |
|
|
Search SEPT5-GP1BB in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SEPT5-GP1BB
No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT5-GP1BB Gene
Publications for SEPT5-GP1BB Gene
- Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 13
- Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 13
- Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3
- 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
- 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
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SEPT5-GP1BB
- Origene Custom Protein Services for SEPT5-GP1BB
- Browse OriGene Inhibitory RNA Products For SEPT5-GP1BB
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for SEPT5-GP1BB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Browse Sino Biological cDNA Clones
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for SEPT5-GP1BB
Sources for SEPT5-GP1BB Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (11) Cell Signaling Technology
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