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SNTG1 syntrophin gamma 1 [ Homo sapiens (human) ]

Gene ID: 54212, updated on 1-Jun-2020

Summary

Official Symbol
SNTG1provided by HGNC
Official Full Name
syntrophin gamma 1provided by HGNC
Primary source
HGNC:HGNC:13740
See related
Ensembl:ENSG00000147481 MIM:608714
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
SYN4; G1SYN
Summary
The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
Expression
Biased expression in brain (RPKM 1.6), spleen (RPKM 0.7) and 2 other tissues See more
Orthologs

Genomic context

See SNTG1 in Genome Data Viewer
Location:
8q11.21
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (49909796..50796692)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (50822349..51706171)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507464 Neighboring gene phosphoserine aminotransferase 1 pseudogene 1 Neighboring gene uncharacterized LOC105375829 Neighboring gene uncharacterized LOC105375828 Neighboring gene coagulation factor III, tissue factor pseudogene Neighboring gene programmed cell death 10 pseudogene Neighboring gene CYCS pseudogene 22 Neighboring gene uncharacterized LOC105375830

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
Common variants at 1p36 are associated with superior frontal gyrus volume.
NHGRI GWA Catalog
Framingham Heart Study genome-wide association: results for pulmonary function measures.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell communication TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
 
dystrophin-associated glycoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
syntrophin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
gamma-1-syntrophin
Names
gamma1-syntrophin
syntrophin 4

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_001287813.3NP_001274742.1  gamma-1-syntrophin isoform 1

    See identical proteins and their annotated locations for NP_001274742.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 all encode isoform 1.
    Source sequence(s)
    AC087173, AC090450, AK314084
    Consensus CDS
    CCDS6147.1
    UniProtKB/Swiss-Prot
    Q9NSN8
    UniProtKB/TrEMBL
    A0A024R7Y0, B2RA84
    Related
    ENSP00000429276.1, ENST00000518864.5
    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
  2. NM_001287814.3NP_001274743.1  gamma-1-syntrophin isoform 2

    See identical proteins and their annotated locations for NP_001274743.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a 5' non-coding exon and an in-frame penultimate coding exon compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment in the C-terminal region compared to isoform 1.
    Source sequence(s)
    AC023762, AC090450, AJ003030, DN995011
    Consensus CDS
    CCDS75737.1
    UniProtKB/Swiss-Prot
    Q9NSN8
    Related
    ENSP00000431123.1, ENST00000517473.5
    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
  3. NM_001321773.2NP_001308702.1  gamma-1-syntrophin isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 all encode isoform 1.
    Source sequence(s)
    AC023762, AC090450, AJ003030, AL161971, DN995011
    Consensus CDS
    CCDS6147.1
    UniProtKB/Swiss-Prot
    Q9NSN8
    UniProtKB/TrEMBL
    A0A024R7Y0
    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
  4. NM_001321775.2NP_001308704.1  gamma-1-syntrophin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.
    Source sequence(s)
    AC087173, AK314084, BG194056
    Consensus CDS
    CCDS87608.1
    UniProtKB/TrEMBL
    B2RA84
    Conserved Domains (3) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
    cd00821
    Location:191259
    PH; Pleckstrin homology (PH) domain
  5. NM_001321776.2NP_001308705.1  gamma-1-syntrophin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.
    Source sequence(s)
    AC023762, AC087173, AL161971, BG194056, DN995011
    Consensus CDS
    CCDS87608.1
    UniProtKB/Swiss-Prot
    Q9NSN8
    Related
    ENSP00000495470.1, ENST00000643999.1
    Conserved Domains (3) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
    cd00821
    Location:191259
    PH; Pleckstrin homology (PH) domain
  6. NM_001321777.2NP_001308706.1  gamma-1-syntrophin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.
    Source sequence(s)
    AC023762, AJ003030, BG194056, DN995011
    Consensus CDS
    CCDS87608.1
    UniProtKB/Swiss-Prot
    Q9NSN8
    Conserved Domains (3) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
    cd00821
    Location:191259
    PH; Pleckstrin homology (PH) domain
  7. NM_001321778.1NP_001308707.1  gamma-1-syntrophin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.
    Source sequence(s)
    AC023842, AC087173, AK314084, BG194056
    Consensus CDS
    CCDS87608.1
    UniProtKB/TrEMBL
    B2RA84
    Related
    ENSP00000494713.1, ENST00000647273.1
    Conserved Domains (3) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
    cd00821
    Location:191259
    PH; Pleckstrin homology (PH) domain
  8. NM_018967.5NP_061840.1  gamma-1-syntrophin isoform 1

    See identical proteins and their annotated locations for NP_061840.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2 and 4 all encode isoform 1.
    Source sequence(s)
    AC023762, AC087173, AC090450, AL161971, DN995011
    Consensus CDS
    CCDS6147.1
    UniProtKB/Swiss-Prot
    Q9NSN8
    UniProtKB/TrEMBL
    A0A024R7Y0
    Related
    ENSP00000493900.1, ENST00000642720.2
    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...

RNA

  1. NR_135794.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023762, AC087173, AC090450, AL161971, DN995011
  2. NR_135795.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023762, AC087173, AC090450, AL161971, DN995011
  3. NR_135796.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023762, AC087173, AC090450, BC143695, DN995011
  4. NR_135797.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) uses alternate splice sites in two internal exons and includes two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023762, AC087173, AC087366, AC090450, AL161971, DN995011
  5. NR_135798.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) lacks an internal exon and two 3' exons but contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023762, AJ003030, BG194056, DN995011

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    49909796..50796692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447183.1XP_024302951.1  gamma-1-syntrophin isoform X1

    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
  2. XM_017013579.1XP_016869068.1  gamma-1-syntrophin isoform X1

    UniProtKB/Swiss-Prot
    Q9NSN8
    UniProtKB/TrEMBL
    A0A024R7Y0
    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
  3. XM_011517548.2XP_011515850.1  gamma-1-syntrophin isoform X2

    Related
    ENSP00000494929.1, ENST00000642164.1
    Conserved Domains (2) summary
    smart00233
    Location:239344
    PH; Pleckstrin homology domain
    cd00992
    Location:1091
    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) ...
  4. XM_017013582.1XP_016869071.1  gamma-1-syntrophin isoform X4

  5. XM_017013581.1XP_016869070.1  gamma-1-syntrophin isoform X3

  6. XM_017013580.2XP_016869069.1  gamma-1-syntrophin isoform X1

    UniProtKB/Swiss-Prot
    Q9NSN8
    UniProtKB/TrEMBL
    A0A024R7Y0
    Conserved Domains (2) summary
    smart00233
    Location:284389
    PH; Pleckstrin homology domain
    cd00992
    Location:55136
    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) ...
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