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Aliases for STBD1 Gene

Aliases for STBD1 Gene

  • Starch Binding Domain 1 2 3 5
  • Glycophagy Cargo Receptor STBD1 3 4
  • Genethonin 1 2 3
  • Starch-Binding Domain-Containing Protein 1 3
  • Genethonin-1 4
  • GENEX3414 3
  • GENX-3414 3

External Ids for STBD1 Gene

Previous GeneCards Identifiers for STBD1 Gene

  • GC04P077446
  • GC04P077227
  • GC04P072979
  • GC04P077173
  • GC04P077175

Summaries for STBD1 Gene

GeneCards Summary for STBD1 Gene

STBD1 (Starch Binding Domain 1) is a Protein Coding gene. Among its related pathways are Immune System and Diurnally regulated genes with circadian orthologs. GO annotations related to this gene include carbohydrate binding and starch binding.

UniProtKB/Swiss-Prot for STBD1 Gene

  • Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STBD1 Gene

Genomics for STBD1 Gene

Regulatory Elements for STBD1 Gene

Enhancers for STBD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F076280 0.4 Ensembl 21.4 -25.0 -25026 0.4 CEBPA FOS STBD1 RNU6-1000P FAM47E SCARB2 FAM47E-STBD1
GH04F076380 0.2 ENCODE 17 +74.7 74650 0.9 ZFP69B ZFHX2 KLF1 EGR2 CCDC158 STBD1 RNU6-1000P FAM47E SCARB2 SHROOM3 GC04M076357 RPL36AP18
GH04F076304 0.5 ENCODE 16.7 +1.0 957 4.4 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 KLF7 ZNF263 CCDC158 STBD1 FAM47E SCARB2 RNU6-1000P NUP54 GC04M076318
GH04F076299 1.4 FANTOM5 Ensembl ENCODE 14.4 -4.7 -4726 4.2 PKNOX1 ATF1 ARNT CREB3L1 ZNF2 YY1 GATA2 CBX5 FOS JUNB STBD1 SCARB2 FAM47E CCDC158 FAM47E-STBD1
GH04F076420 0.6 Ensembl 13.6 +115.2 115175 1.2 E2F1 CBX5 POLR2A CCDC158 STBD1 NAAA GC04P076410
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around STBD1 on UCSC Golden Path with GeneCards custom track

Promoters for STBD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001432242 774 2401 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 KLF7 ZNF263 SP3

Genomic Location for STBD1 Gene

Chromosome:
4
Start:
76,306,026 bp from pter
End:
76,311,599 bp from pter
Size:
5,574 bases
Orientation:
Plus strand

Genomic View for STBD1 Gene

Genes around STBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STBD1 Gene

Proteins for STBD1 Gene

  • Protein details for STBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95210-STBD1_HUMAN
    Recommended name:
    Starch-binding domain-containing protein 1
    Protein Accession:
    O95210
    Secondary Accessions:
    • B3KVZ9

    Protein attributes for STBD1 Gene

    Size:
    358 amino acids
    Molecular mass:
    39007 Da
    Quaternary structure:
    • Interacts with the ATG8 family proteins GABARAP and GABARAPL1 (PubMed:20810658, PubMed:21893048). Interacts with several glycogen-associated proteins, such as GYS2 (liver glycogen synthase), GDE (glycogen debranching enzyme), GBE1 (glycogen branching enzyme 1) and EPM2A (Laforin) (PubMed:24837458).

neXtProt entry for STBD1 Gene

Post-translational modifications for STBD1 Gene

Other Protein References for STBD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STBD1 Gene

Domains & Families for STBD1 Gene

Protein Domains for STBD1 Gene

Suggested Antigen Peptide Sequences for STBD1 Gene

Graphical View of Domain Structure for InterPro Entry

O95210

UniProtKB/Swiss-Prot:

STBD1_HUMAN :
  • The LIR motif (LC3-interacting region) is required for the interaction with the ATG8 family protein GABARAPL1.
Domain:
  • The LIR motif (LC3-interacting region) is required for the interaction with the ATG8 family protein GABARAPL1.
  • The C-terminal CBM20 domain is required for the interaction with glycogen and glycogen-associated proteins.
  • Contains 1 CBM20 (carbohydrate binding type-20) domain.
genes like me logo Genes that share domains with STBD1: view

No data available for Gene Families for STBD1 Gene

Function for STBD1 Gene

Molecular function for STBD1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes.

Gene Ontology (GO) - Molecular Function for STBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
GO:0019899 enzyme binding IPI 24837458
GO:0030246 carbohydrate binding IEA --
GO:0030247 polysaccharide binding IDA 24837458
GO:2001069 glycogen binding IDA 20810658
genes like me logo Genes that share ontologies with STBD1: view
genes like me logo Genes that share phenotypes with STBD1: view

Animal Model Products

miRNA for STBD1 Gene

miRTarBase miRNAs that target STBD1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STBD1 Gene

Localization for STBD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STBD1 Gene

Preautophagosomal structure membrane; Single-pass type III membrane protein. Endoplasmic reticulum membrane; Single-pass type III membrane protein. Note=Distributed in the transverse tubules and/or near the junctional sarcoplasmic reticulum (PubMed:9794794). Concentrates at perinuclear structures (PubMed:21893048). {ECO:0000269 PubMed:21893048, ECO:0000269 PubMed:9794794}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STBD1 Gene COMPARTMENTS Subcellular localization image for STBD1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytosol 2
extracellular 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for STBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IGI 27358407
GO:0005783 endoplasmic reticulum IEA,IDA 9794794
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane IDA,TAS 9794794
GO:0016020 membrane IEA,IDA 20810658
genes like me logo Genes that share ontologies with STBD1: view

Pathways & Interactions for STBD1 Gene

genes like me logo Genes that share pathways with STBD1: view

Pathways by source for STBD1 Gene

1 BioSystems pathway for STBD1 Gene
2 Reactome pathways for STBD1 Gene

Gene Ontology (GO) - Biological Process for STBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IEA --
GO:0005980 glycogen catabolic process IMP 20810658
GO:0006914 autophagy IEA --
GO:0006936 muscle contraction TAS --
genes like me logo Genes that share ontologies with STBD1: view

No data available for SIGNOR curated interactions for STBD1 Gene

Transcripts for STBD1 Gene

mRNA/cDNA for STBD1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(158) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for STBD1 Gene

Starch binding domain 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for STBD1 Gene

No ASD Table

Relevant External Links for STBD1 Gene

GeneLoc Exon Structure for
STBD1
ECgene alternative splicing isoforms for
STBD1

Expression for STBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STBD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STBD1 Gene

This gene is overexpressed in Lavage (29.5), Heart (6.7), and Liver (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STBD1 Gene



Protein tissue co-expression partners for STBD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of STBD1 Gene:

STBD1

SOURCE GeneReport for Unigene cluster for STBD1 Gene:

Hs.109590

mRNA Expression by UniProt/SwissProt for STBD1 Gene:

O95210-STBD1_HUMAN
Tissue specificity: Expressed at high level in skeletal and cardiac muscles. Moderately expressed in liver and placenta. No expression is found in pancreas, kidney or lung. Present in skeletal muscle, heart and placenta (at protein level).
genes like me logo Genes that share expression patterns with STBD1: view

Primer Products

No data available for mRNA differential expression in normal tissues for STBD1 Gene

Orthologs for STBD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STBD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STBD1 34 35
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia STBD1 34
  • 82.38 (n)
FAM47E-STBD1 35
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STBD1 34
  • 81.48 (n)
FAM47E-STBD1 35
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stbd1 34
  • 79.36 (n)
mouse
(Mus musculus)
Mammalia Stbd1 34 16 35
  • 78.21 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM47E-STBD1 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM47E-STBD1 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM47E-STBD1 35
  • 21 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17753 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1765 34
zebrafish
(Danio rerio)
Actinopterygii stbd1 35
  • 13 (a)
OneToOne
Species where no ortholog for STBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STBD1 Gene

ENSEMBL:
Gene Tree for STBD1 (if available)
TreeFam:
Gene Tree for STBD1 (if available)

Paralogs for STBD1 Gene

(1) SIMAP similar genes for STBD1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for STBD1 Gene

genes like me logo Genes that share paralogs with STBD1: view

No data available for Paralogs for STBD1 Gene

Variants for STBD1 Gene

Sequence variations from dbSNP and Humsavar for STBD1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1053464 -- 76,306,853(+) CCTGG(A/C)GACAC intron-variant, reference, synonymous-codon
rs1053465 -- 76,309,335(+) GTTAC(C/T)CTGAA intron-variant, reference, missense, utr-variant-3-prime
rs11097330 -- 76,306,420(+) GTCCC(A/G)GCTGC intron-variant, utr-variant-5-prime
rs111287680 -- 76,307,680(+) CCCAA(A/C)CCTGA intron-variant
rs112061706 -- 76,307,243(+) GACTT(A/G)GTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STBD1 Gene

Variant ID Type Subtype PubMed ID
esv3390912 CNV duplication 20981092
nsv7363 OTHER inversion 18451855

Variation tolerance for STBD1 Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STBD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STBD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STBD1 Gene

Disorders for STBD1 Gene

Relevant External Links for STBD1

Genetic Association Database (GAD)
STBD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STBD1

No disorders were found for STBD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STBD1 Gene

Publications for STBD1 Gene

  1. Molecular cloning and functional expression of a novel human gene encoding two 41-43 kDa skeletal muscle internal membrane proteins. (PMID: 9794794) Bouju S. … Dechesne C.A. (Biochem. J. 1998) 2 3 4 22 64
  2. The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions. (PMID: 24837458) Zhu Y. … Cheng A. (Biosci. Rep. 2014) 3 4 64
  3. Starch-binding domain-containing protein 1 (Stbd1) and glycogen metabolism: Identification of the Atg8 family interacting motif (AIM) in Stbd1 required for interaction with GABARAPL1. (PMID: 21893048) Jiang S. … Roach P.J. (Biochem. Biophys. Res. Commun. 2011) 3 4 64
  4. Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolism. (PMID: 20810658) Jiang S. … Roach P.J. (J. Biol. Chem. 2010) 3 4 64
  5. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) SimA^n-SA!nchez J. … Gasser T. (Nat. Genet. 2009) 3 46 64

Products for STBD1 Gene

Sources for STBD1 Gene

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