Human Gene SNTB1 (ENST00000517992.2_7) from GENCODE V47lift37
  Description: syntrophin beta 1 (from RefSeq NM_021021.4)
Gencode Transcript: ENST00000517992.2_7
Gencode Gene: ENSG00000172164.15_12
Transcript (Including UTRs)
   Position: hg19 chr8:121,547,996-121,824,286 Size: 276,291 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr8:121,551,117-121,824,083 Size: 272,967 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:121,547,996-121,824,286)mRNA (may differ from genome)Protein (538 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNTB1_HUMAN
DESCRIPTION: RecName: Full=Beta-1-syntrophin; AltName: Full=59 kDa dystrophin-associated protein A1 basic component 1; Short=DAPA1B; AltName: Full=BSYN2; AltName: Full=Syntrophin-2; AltName: Full=Tax interaction protein 43; Short=TIP-43;
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.
SUBUNIT: 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.
INTERACTION: O95477:ABCA1; NbExp=3; IntAct=EBI-295843, EBI-784112; P11532:DMD; NbExp=3; IntAct=EBI-295843, EBI-295827;
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity). Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The PH 1 domain mediates the oligomerization in a calcium dependent manner (By similarity).
DOMAIN: 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).
DOMAIN: The SU domain binds calmodulin in a calcium-dependent manner (By similarity).
PTM: Phosphorylated by CaM-kinase II (By similarity).
SIMILARITY: Belongs to the syntrophin family.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 2 PH domains.
SIMILARITY: Contains 1 SU (syntrophin unique) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNTB1
Diseases sorted by gene-association score: duchenne muscular dystrophy (5), muscular dystrophy (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.62 RPKM in Adrenal Gland
Total median expression: 105.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.20203-0.370 Picture PostScript Text
3' UTR -711.303121-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR015482 - Syntrophin

Pfam Domains:
PF00169 - PH domain
PF00595 - PDZ domain
PF18012 - PH domain

SCOP Domains:
50156 - PDZ domain-like
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q13884
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0030165 PDZ domain binding

Biological Process:
GO:0006936 muscle contraction

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016020 membrane
GO:0030054 cell junction
GO:0032991 macromolecular complex
GO:0042383 sarcolemma
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  BC098573 - Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1), mRNA (cDNA clone MGC:111389 IMAGE:30925462), complete cds.
AK026095 - Homo sapiens cDNA: FLJ22442 fis, clone HRC09342, highly similar to AF028828 Homo sapiens Tax interaction protein 43 mRNA.
AK292655 - Homo sapiens cDNA FLJ77624 complete cds, highly similar to Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.
AB590740 - Synthetic construct DNA, clone: pFN21AB5932, Homo sapiens SNTB1 gene for syntrophin, beta 1, without stop codon, in Flexi system.
AF028828 - Homo sapiens Tax interaction protein 43 mRNA, partial cds.
AK025100 - Homo sapiens cDNA: FLJ21447 fis, clone COL04468.
JD237909 - Sequence 218933 from Patent EP1572962.
BC023571 - Homo sapiens cDNA clone IMAGE:4546621, partial cds.
JD046993 - Sequence 28017 from Patent EP1572962.
JD509432 - Sequence 490456 from Patent EP1572962.
JD089001 - Sequence 70025 from Patent EP1572962.
JD454533 - Sequence 435557 from Patent EP1572962.
JD454532 - Sequence 435556 from Patent EP1572962.
JD433277 - Sequence 414301 from Patent EP1572962.
JD510337 - Sequence 491361 from Patent EP1572962.
JD085919 - Sequence 66943 from Patent EP1572962.
JD488805 - Sequence 469829 from Patent EP1572962.
JD043969 - Sequence 24993 from Patent EP1572962.
JD307614 - Sequence 288638 from Patent EP1572962.
JD218233 - Sequence 199257 from Patent EP1572962.
JD213944 - Sequence 194968 from Patent EP1572962.
JD077459 - Sequence 58483 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9E0, ENST00000517992.1, NM_021021, O14912, Q13884, Q4KMG8, SNT2B1, SNTB1_HUMAN, uc323qgr.1, uc323qgr.2
UCSC ID: ENST00000517992.2_7
RefSeq Accession: NM_021021.4
Protein: Q13884 (aka SNTB1_HUMAN or SNB1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.