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Aliases for SBDSP1 Gene

Aliases for SBDSP1 Gene

  • SBDS, Ribosome Maturation Factor Pseudogene 1 2 3 5
  • SBDS, Ribosome Assembly Guanine Nucleotide Exchange Factor Pseudogene 1 2 3
  • Shwachman-Bodian-Diamond Syndrome Pseudogene 1 3
  • Shwachman-Bodian-Diamond Syndrome Pseudogene 2
  • SBDSP 3

External Ids for SBDSP1 Gene

Previous HGNC Symbols for SBDSP1 Gene


Previous GeneCards Identifiers for SBDSP1 Gene

  • GC07P072299
  • GC07P068468

Summaries for SBDSP1 Gene

GeneCards Summary for SBDSP1 Gene

SBDSP1 (SBDS, Ribosome Maturation Factor Pseudogene 1) is a Pseudogene. Diseases associated with SBDSP1 include Shwachman-Diamond Syndrome.

Additional gene information for SBDSP1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBDSP1 Gene

Genomics for SBDSP1 Gene

GeneHancer (GH) Regulatory Elements for SBDSP1 Gene

Promoters and enhancers for SBDSP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I072827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.0 33 4.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 TYW1B PIR36920 SBDSP1 STAG3L3 POM121B TBL2 POM121 FKBP6 NSUN5P2 BUD23
GH07I073555 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 +727.6 727616 3.2 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A ZBTB7B YY1 BCL7B MLXIPL POM121 POM121B MIR590 TBL2 NSUN5P2 STAG3L3 ELN-AS1 BAZ1B
GH07I072266 Enhancer 0.5 ENCODE dbSUPER 3.9 -562.2 -562231 2.4 HLF SBDSP1 PIR53501 GC07P072216 GC07M072322 CALN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SBDSP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SBDSP1 Gene

Genomic Locations for SBDSP1 Gene
8,027 bases
Plus strand

Genomic View for SBDSP1 Gene

Genes around SBDSP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SBDSP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SBDSP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBDSP1 Gene

Proteins for SBDSP1 Gene

Post-translational modifications for SBDSP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SBDSP1 Gene

Domains & Families for SBDSP1 Gene

Gene Families for SBDSP1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SBDSP1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SBDSP1 Gene

Function for SBDSP1 Gene

Phenotypes From GWAS Catalog for SBDSP1 Gene

Animal Model Products

miRNA for SBDSP1 Gene

miRTarBase miRNAs that target SBDSP1

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SBDSP1 Gene

Localization for SBDSP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SBDSP1 Gene

Pathways & Interactions for SBDSP1 Gene

SuperPathways for SBDSP1 Gene

No Data Available

Interacting Proteins for SBDSP1 Gene

Gene Ontology (GO) - Biological Process for SBDSP1 Gene


No data available for Pathways by source and SIGNOR curated interactions for SBDSP1 Gene

Drugs & Compounds for SBDSP1 Gene

No Compound Related Data Available

Transcripts for SBDSP1 Gene

Unigene Clusters for SBDSP1 Gene

Shwachman-Bodian-Diamond syndrome pseudogene 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SBDSP1 Gene

No ASD Table

Relevant External Links for SBDSP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SBDSP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SBDSP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SBDSP1 Gene:


SOURCE GeneReport for Unigene cluster for SBDSP1 Gene:

genes like me logo Genes that share expression patterns with SBDSP1: view

Primer 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 SBDSP1 Gene

Orthologs for SBDSP1 Gene

Evolution for SBDSP1 Gene

Gene Tree for SBDSP1 (if available)
Gene Tree for SBDSP1 (if available)

No data available for Orthologs for SBDSP1 Gene

Paralogs for SBDSP1 Gene

No data available for Paralogs for SBDSP1 Gene

Variants for SBDSP1 Gene

Sequence variations from dbSNP and Humsavar for SBDSP1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10624632 -- 72,837,880(+) AA/AAA/AAAA downstream_transcript_variant
rs111300712 -- 72,834,860(+) C/A/G/T genic_downstream_transcript_variant, intron_variant
rs111425898 -- 72,835,805(+) T/C genic_downstream_transcript_variant, intron_variant
rs111567578 -- 72,834,620(+) T/A genic_downstream_transcript_variant, intron_variant
rs111914261 -- 72,830,468(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SBDSP1 Gene

Variant ID Type Subtype PubMed ID
dgv1116n67 CNV gain 20364138
dgv11442n54 CNV gain 21841781
dgv11443n54 CNV gain 21841781
dgv1923e212 CNV gain 25503493
dgv6459n100 CNV loss 25217958
dgv6460n100 CNV gain 25217958
dgv6461n100 CNV gain 25217958
dgv6462n100 CNV gain 25217958
dgv6464n100 CNV gain 25217958
dgv821n27 CNV gain 19166990
esv23205 CNV gain 19812545
esv2759537 CNV gain+loss 17122850
esv2761093 CNV loss 21179565
esv33871 CNV loss 17666407
esv34349 CNV gain 17911159
esv3613672 CNV loss 21293372
esv3613673 CNV gain 21293372
esv3613675 CNV gain 21293372
esv3891144 CNV gain 25118596
nsv1017637 CNV loss 25217958
nsv1019945 CNV gain+loss 25217958
nsv1023115 CNV gain 25217958
nsv1161562 CNV duplication 26073780
nsv428171 CNV gain 18775914
nsv436901 CNV insertion 17901297
nsv442053 CNV gain 18776908
nsv469793 CNV gain 16826518
nsv520573 CNV gain+loss 19592680
nsv5790 CNV deletion 18451855
nsv607467 CNV gain 21841781
nsv970526 CNV duplication 23825009

Additional Variant Information for SBDSP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SBDSP1 Gene

Disorders for SBDSP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SBDSP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • sds
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SBDSP1

genes like me logo Genes that share disorders with SBDSP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SBDSP1 Gene

Publications for SBDSP1 Gene

  1. Silencing of long non-coding RNA SBDSP1 suppresses tumor growth and invasion in colorectal cancer. (PMID: 27890432) Shi D … Cai S (Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2017) 2 3 58
  2. Mutations in SBDS are associated with Shwachman-Diamond syndrome. (PMID: 12496757) Boocock GR … Rommens JM (Nature genetics 2003) 2 3 58
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for SBDSP1 Gene

Sources for SBDSP1 Gene

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