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Aliases for SNTB1 Gene

Aliases for SNTB1 Gene

  • Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kDa, Basic Component 1) 2 3
  • Tax Interaction Protein 43 2 3 4
  • SNT2B1 3 4 6
  • 59 KDa Dystrophin-Associated Protein A1 Basic Component 1 3 4
  • Syntrophin-2 3 4
  • DAPA1B 3 4
  • TIP-43 3 4
  • BSYN2 3 4
  • Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kD, Basic Component 1) 2
  • Dystrophin-Associated Protein A1, 59kD, Basic Component 1 3
  • Beta-1-Syntrophin 3
  • 59-DAP 3
  • SNT2 3
  • A1B, 6
  • 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 (Dystrophin-Associated Protein A1, 59kDa, Basic Component 1)) is a Protein Coding gene. Diseases associated with SNTB1 include duchenne muscular dystrophy. Among its related pathways are DREAM Repression and Dynorphin Expression and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. GO annotations related to this gene include phospholipid binding and calmodulin 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SNTB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for SNTB1 Gene

Gene Families for SNTB1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

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 :
  • Q13884
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:0003779 actin binding IEA --
GO:0005515 protein binding IPI 12477932
GO:0005516 calmodulin binding IEA --
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with SNTB1: view

Phenotypes for SNTB1 Gene

GenomeRNAi human phenotypes for SNTB1:
genes like me logo Genes that share phenotypes with SNTB1: view

miRNA for SNTB1 Gene

miRTarBase miRNAs that target SNTB1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNTB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 2
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:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0016010 dystrophin-associated glycoprotein complex TAS 8119949
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with SNTB1: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 8183929
genes like me logo Genes that share ontologies with SNTB1: view

Compounds for SNTB1 Gene

(2) HMDB Compounds for SNTB1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Sodium
  • Sodium
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNTB1

Primer Products

Flow Cytometry Products

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 (9.8) and Liver (5.0).

Protein differential expression in normal tissues for SNTB1 Gene

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

Integrated Proteomics: protein expression 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 expressions with SNTB1: view

Expression partners for SNTB1 Gene

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

Selected 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 MAF
rs1301 -- 120,739,009(+) CTGTT(C/T)GACAG intron-variant
rs1129609 -- 120,535,940(-) AATGG(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

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

MalaCards: The human disease database.

Search for SNTB1 Gene in MalaCards »

(1) Diseases for SNTB1 Gene including...

(1) University of Copenhagen DISEASES for SNTB1 Gene

(1) Novoseek inferred disease relationships for SNTB1 Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy duchenne 55.9 1

Relevant External Links for SNTB1

Genetic Association Database (GAD)
SNTB1
genes like me logo Genes that share disorders with SNTB1: view

No data available for OMIM , 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
  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 4
  3. Syntrophin binds to an alternatively spliced exon of dystrophin. (PMID: 7844150) Ahn A.H. … Kunkel L.M. (J. Cell Biol. 1995) 3 4 23
  4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K. … Vandekerckhove J. (Nat. Biotechnol. 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SNTB1 Gene

Sources for SNTB1 Gene

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