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    SNTG1 syntrophin gamma 1 [ Homo sapiens (human) ]

    Gene ID: 54212, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:13740
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SNTG1 in Genome Data Viewer
    Location:
    8q11.21
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (49909796..50796692)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (50288289..51170264)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (50822356..51709252)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507464 Neighboring gene NANOG hESC enhancer GRCh37_chr8:50516568-50517170 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:50568577-50569776 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:50629145-50629825 Neighboring gene phosphoserine aminotransferase 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:50754554-50755103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:50755104-50755652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:50822872-50823816 Neighboring gene NANOG hESC enhancer GRCh37_chr8:50969100-50969624 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:51066297-51066804 Neighboring gene uncharacterized LOC124900619 Neighboring gene uncharacterized LOC105375829 Neighboring gene uncharacterized LOC105375828 Neighboring gene coagulation factor III, tissue factor pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:51449232-51449447 Neighboring gene Sharpr-MPRA regulatory region 15467 Neighboring gene Sharpr-MPRA regulatory region 14710 Neighboring gene uncharacterized LOC124902098 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      Q2M3Q0, Q9NSN8, Q9NY98
      UniProtKB/TrEMBL
      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/TrEMBL
      B2RA84
      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
      Q2M3Q0, Q9NSN8, Q9NY98
      UniProtKB/TrEMBL
      B2RA84
      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
      A0A2R8Y5T2, A0A2R8Y6P6
      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/TrEMBL
      A0A2R8Y5T2, A0A2R8Y6P6
      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/TrEMBL
      A0A2R8Y5T2, A0A2R8Y6P6
      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_001321778.2NP_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
      A0A2R8Y5T2, A0A2R8Y6P6
      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
      Q2M3Q0, Q9NSN8, Q9NY98
      UniProtKB/TrEMBL
      B2RA84
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047421896.1XP_047277852.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
    2. XM_017013579.2XP_016869068.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
      UniProtKB/TrEMBL
      B2RA84
      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_047421897.1XP_047277853.1  gamma-1-syntrophin isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y631
      Related
      ENSP00000494929.1, ENST00000642164.1
    4. XM_024447183.2XP_024302951.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
      UniProtKB/TrEMBL
      B2RA84
      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) ...
    5. XM_047421898.1XP_047277854.1  gamma-1-syntrophin isoform X4

    6. XM_017013582.2XP_016869071.1  gamma-1-syntrophin isoform X4

    7. XM_017013581.2XP_016869070.1  gamma-1-syntrophin isoform X3

    8. XM_017013580.3XP_016869069.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
      UniProtKB/TrEMBL
      B2RA84
      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) ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      50288289..51170264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360700.1XP_054216675.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
    2. XM_054360697.1XP_054216672.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
    3. XM_054360701.1XP_054216676.1  gamma-1-syntrophin isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y631
    4. XM_054360699.1XP_054216674.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98
    5. XM_054360703.1XP_054216678.1  gamma-1-syntrophin isoform X4

    6. XM_054360704.1XP_054216679.1  gamma-1-syntrophin isoform X4

    7. XM_054360702.1XP_054216677.1  gamma-1-syntrophin isoform X3

    8. XM_054360698.1XP_054216673.1  gamma-1-syntrophin isoform X1

      UniProtKB/Swiss-Prot
      Q2M3Q0, Q9NSN8, Q9NY98