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SNTB1 syntrophin beta 1 [ Homo sapiens (human) ]

Gene ID: 6641, updated on 21-Dec-2019

Summary

Official Symbol
SNTB1provided by HGNC
Official Full Name
syntrophin beta 1provided by HGNC
Primary source
HGNC:HGNC:11168
See related
Ensembl:ENSG00000172164 MIM:600026
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43
Summary
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]
Expression
Broad expression in thyroid (RPKM 41.8), adrenal (RPKM 32.7) and 22 other tissues See more
Orthologs

Genomic context

See SNTB1 in Genome Data Viewer
Location:
8q24.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (120535756..120812046, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (121547985..121825599, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L13 Neighboring gene MDM2 binding protein Neighboring gene non-SMC condensin I complex subunit G pseudogene 1 Neighboring gene uncharacterized LOC101927543 Neighboring gene uncharacterized LOC107986874 Neighboring gene VISTA enhancer hs1482 Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.
NHGRI GWA Catalog
Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
NHGRI GWA Catalog
Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22442, MGC111389

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion HDA PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
beta-1-syntrophin
Names
59 kDa dystrophin-associated protein A1 basic component 1
dystrophin-associated protein A1, 59kD, basic component 1
syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
syntrophin-2
tax interaction protein 43

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021021.4NP_066301.1  beta-1-syntrophin

    See identical proteins and their annotated locations for NP_066301.1

    Status: REVIEWED

    Source sequence(s)
    AC105142, AK292655, BC098573
    Consensus CDS
    CCDS6334.1
    UniProtKB/Swiss-Prot
    Q13884
    Related
    ENSP00000431124.1, ENST00000517992.2
    Conserved Domains (4) summary
    smart00233
    Location:323433
    PH; Pleckstrin homology domain
    cd00992
    Location:111192
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:242299
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:323433
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    120535756..120812046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517239.2XP_011515541.1  beta-1-syntrophin isoform X1

    UniProtKB/Swiss-Prot
    Q13884
    Related
    ENSP00000497707.1, ENST00000648490.1
    Conserved Domains (4) summary
    smart00233
    Location:323375
    PH; Pleckstrin homology domain
    cd00992
    Location:111192
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01258
    Location:242299
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:323375
    PH; PH domain
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