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Aliases for SNTB1 Gene

Aliases for SNTB1 Gene

  • Syntrophin Beta 1 2 3
  • Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kDa, Basic Component 1) 2 3 5
  • Tax Interaction Protein 43 2 3 4
  • 59 KDa Dystrophin-Associated Protein A1 Basic Component 1 3 4
  • Syntrophin-2 3 4
  • SNT2B1 3 4
  • DAPA1B 3 4
  • TIP-43 3 4
  • BSYN2 3 4
  • Dystrophin-Associated Protein A1, 59kD, Basic Component 1 3
  • 59-DAP 3
  • SNT2 3
  • A1B 3

External Ids for SNTB1 Gene

Previous HGNC Symbols for SNTB1 Gene

  • SNT2B1

Previous GeneCards Identifiers for SNTB1 Gene

  • GC08M121607
  • GC08M121218
  • GC08M121506
  • GC08M121619
  • GC08M116868

Summaries for SNTB1 Gene

Entrez Gene Summary for SNTB1 Gene

  • Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNTB1 Gene

SNTB1 (Syntrophin Beta 1) is a Protein Coding gene. Diseases associated with SNTB1 include duchenne muscular dystrophy. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and DREAM Repression and Dynorphin Expression. GO annotations related to this gene include actin binding and PDZ domain binding. An important paralog of this gene is SNTG1.

UniProtKB/Swiss-Prot for SNTB1 Gene

  • Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.

Gene Wiki entry for SNTB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNTB1 Gene

Genomics for SNTB1 Gene

Regulatory Elements for SNTB1 Gene

Genomic Location for SNTB1 Gene

Chromosome:
8
Start:
120,535,745 bp from pter
End:
120,813,273 bp from pter
Size:
277,529 bases
Orientation:
Minus strand

Genomic View for SNTB1 Gene

Genes around SNTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNTB1 Gene

Proteins for SNTB1 Gene

  • Protein details for SNTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13884-SNTB1_HUMAN
    Recommended name:
    Beta-1-syntrophin
    Protein Accession:
    Q13884
    Secondary Accessions:
    • A8K9E0
    • O14912
    • Q4KMG8

    Protein attributes for SNTB1 Gene

    Size:
    538 amino acids
    Molecular mass:
    58061 Da
    Quaternary structure:
    • Monomer and homodimer (Probable). Interacts with the other members of the syntrophin family SNTA1 and SNTB2; with the sodium channel proteins SCN4A and SCN5A (By similarity). Interacts with the viral HTLV-1 TAX protein and with dystrophin protein DMD and related proteins DTNA and UTRN.

    Alternative splice isoforms for SNTB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNTB1 Gene

Proteomics data for SNTB1 Gene at MOPED

Post-translational modifications for SNTB1 Gene

Other Protein References for SNTB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SNTB1 Gene

Domains & Families for SNTB1 Gene

Protein Domains for SNTB1 Gene

Suggested Antigen Peptide Sequences for SNTB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13884

UniProtKB/Swiss-Prot:

SNTB1_HUMAN :
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner.
  • Belongs to the syntrophin family.
Domain:
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner.
  • The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).
  • The SU domain binds calmodulin in a calcium-dependent manner.
  • Contains 1 PDZ (DHR) domain.
  • Contains 2 PH domains.
  • Contains 1 SU (syntrophin unique) domain.
Family:
  • Belongs to the syntrophin family.
genes like me logo Genes that share domains with SNTB1: view

Function for SNTB1 Gene

Molecular function for SNTB1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.

Gene Ontology (GO) - Molecular Function for SNTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
genes like me logo Genes that share ontologies with SNTB1: view
genes like me logo Genes that share phenotypes with SNTB1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNTB1 Gene

Localization for SNTB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNTB1 Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cell junction. Cytoplasm, cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNTB1 Gene COMPARTMENTS Subcellular localization image for SNTB1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SNTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043234 protein complex IDA 18468998
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with SNTB1: view

Pathways & Interactions for SNTB1 Gene

genes like me logo Genes that share pathways with SNTB1: view

Pathways by source for SNTB1 Gene

Gene Ontology (GO) - Biological Process for SNTB1 Gene

None

No data available for SIGNOR curated interactions for SNTB1 Gene

Drugs & Compounds for SNTB1 Gene

(1) Drugs for SNTB1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for SNTB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SNTB1: view

Transcripts for SNTB1 Gene

Unigene Clusters for SNTB1 Gene

Syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNTB1 Gene

No ASD Table

Relevant External Links for SNTB1 Gene

GeneLoc Exon Structure for
SNTB1
ECgene alternative splicing isoforms for
SNTB1

Expression for SNTB1 Gene

mRNA expression in normal human tissues for SNTB1 Gene

mRNA differential expression in normal tissues according to GTEx for SNTB1 Gene

This gene is overexpressed in Adrenal Gland (x9.8) and Liver (x5.0).

Protein differential expression in normal tissues from HIPED for SNTB1 Gene

This gene is overexpressed in Breast (21.2) and Salivary gland (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNTB1 Gene



SOURCE GeneReport for Unigene cluster for SNTB1 Gene Hs.46701

mRNA Expression by UniProt/SwissProt for SNTB1 Gene

Q13884-SNTB1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with SNTB1: view

Protein tissue co-expression partners for SNTB1 Gene

Primer Products

In Situ Assay Products

Orthologs for SNTB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNTB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNTB1 35
  • 86.31 (n)
  • 87.1 (a)
SNTB1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNTB1 35
  • 92.03 (n)
  • 95.45 (a)
SNTB1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sntb1 35
  • 89.25 (n)
  • 93.82 (a)
Sntb1 16
Sntb1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNTB1 35
  • 99.94 (n)
  • 99.81 (a)
SNTB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sntb1 35
  • 88.8 (n)
  • 93.05 (a)
oppossum
(Monodelphis domestica)
Mammalia SNTB1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNTB1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNTB1 35
  • 81.55 (n)
  • 84.98 (a)
SNTB1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNTB1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sntb1 35
  • 73 (n)
  • 75.8 (a)
Str.13583 35
zebrafish
(Danio rerio)
Actinopterygii Dr.12127 35
sntb1 35
  • 69.32 (n)
  • 69.12 (a)
sntb1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn1 37
  • 38 (a)
Syn1 35
  • 54.9 (n)
  • 48.1 (a)
Syn1 36
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012354 35
  • 40.25 (n)
  • 29.6 (a)
worm
(Caenorhabditis elegans)
Secernentea stn-1 37
  • 35 (a)
stn-1 35
  • 48.69 (n)
  • 41.94 (a)
stn-1 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
ManyToMany
Species with no ortholog for SNTB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for SNTB1 Gene

ENSEMBL:
Gene Tree for SNTB1 (if available)
TreeFam:
Gene Tree for SNTB1 (if available)

Paralogs for SNTB1 Gene

Paralogs for SNTB1 Gene

(2) SIMAP similar genes for SNTB1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SNTB1 Gene

genes like me logo Genes that share paralogs with SNTB1: view

Variants for SNTB1 Gene

Sequence variations from dbSNP and Humsavar for SNTB1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1301 -- 120,739,009(+) CTGTT(C/T)GACAG intron-variant
rs1129609 -- 120,535,940(-) AATGG(A/G/T)CAGGG utr-variant-3-prime
rs1129993 -- 120,537,053(-) GAATA(C/T)CATAG utr-variant-3-prime
rs1133269 -- 120,538,751(-) CTCAA(G/T)AGTCG utr-variant-3-prime
rs1143140 -- 120,659,292(-) ATGAC(A/G)AGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNTB1 Gene

Variant ID Type Subtype PubMed ID
dgv7872n71 CNV Gain 21882294
nsv519152 CNV Gain 19592680
nsv6367 CNV Insertion 18451855
nsv6368 CNV Insertion 18451855
nsv6369 CNV Loss 18451855
esv2627304 CNV Deletion 19546169
nsv891422 CNV Gain 21882294
esv2384067 CNV Deletion 18987734
esv2737504 CNV Deletion 23290073
nsv396363 CNV Loss 16902084
esv991277 CNV Deletion 20482838
esv9493 CNV Loss 19470904
nsv527545 CNV Gain 19592680
nsv518562 CNV Loss 19592680
dgv472n21 CNV Loss 19592680
esv27731 CNV Loss 19812545
essv10963 CNV CNV 17122850

Variation tolerance for SNTB1 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNTB1 Gene

HapMap Linkage Disequilibrium report
SNTB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNTB1 Gene

Disorders for SNTB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNTB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
duchenne muscular dystrophy
  • muscular dystrophy, duchenne
- elite association - COSMIC cancer census association via MalaCards
Search SNTB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNTB1

Genetic Association Database (GAD)
SNTB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNTB1
genes like me logo Genes that share disorders with SNTB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNTB1 Gene

Publications for SNTB1 Gene

  1. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. (PMID: 8183929) Ahn A.H. … Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 23 67
  2. The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. (PMID: 9482110) Rousset R. … Jalinot P. (Oncogene 1998) 2 3
  3. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PMID: 8576247) Ahn A.H. … Kunkel L.M. (J. Biol. Chem. 1996) 3 23
  4. Syntrophin binds to an alternatively spliced exon of dystrophin. (PMID: 7844150) Ahn A.H. … Kunkel L.M. (J. Cell Biol. 1995) 3 23
  5. Association of microcephalin 1, syntrophin-beta 1, and other genes with automatic thoughts in the Japanese population. (PMID: 24975899) Ishitobi Y. … Akiyoshi J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2014) 3

Products for SNTB1 Gene

Sources for SNTB1 Gene

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