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SH3GL3 SH3-domain GRB2-like 3 [ Homo sapiens (human) ]

Gene ID: 6457, updated on 8-Feb-2015
Official Symbol
SH3GL3provided by HGNC
Official Full Name
SH3-domain GRB2-like 3provided by HGNC
Primary source
HGNC:HGNC:10832
See related
Ensembl:ENSG00000140600; HPRD:04528; MIM:603362; Vega:OTTHUMG00000147361
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNSA3; EEN-B2; SH3D2C; SH3P13; HsT19371
Orthologs
See SH3GL3 in MapViewer
Location:
15q24
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (83447228..83618743)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (84116091..84287495)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene hepatoma-derived growth factor, related protein 3 Neighboring gene uncharacterized LOC102724056 Neighboring gene basonuclin 1 Neighboring gene ADAMTS-like 3 Neighboring gene family with sequence similarity 154, member B pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of height and body mass index in Australian twin families.
NHGRI GWA Catalog
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
  • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
endophilin-A3
Names
endophilin-A3
SH3 domain protein 2C
SH3 domain-containing GRB2-like protein 3
endophilin-3

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_001301108.1NP_001288037.1  endophilin-A3 isoform b

    See proteins identical to NP_001288037.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (EEN-B2-L2) uses an alternate splice site, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant EEN-B2-L1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK307442, AK309086, BC035598
    UniProtKB/TrEMBL
    A0A024R215
    UniProtKB/Swiss-Prot
    Q99963
    Conserved Domains (2) summary
    cd11803
    Location:219273
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
    cl12013
    Location:1178
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_001301109.1NP_001288038.1  endophilin-A3 isoform c

    See proteins identical to NP_001288038.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (EEN-B2-L3) includes three additional exons, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant EEN-B2-L1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AF036271, AK309086, BC035598
    Consensus CDS
    CCDS73772.1
    UniProtKB/Swiss-Prot
    Q99963
    Conserved Domains (2) summary
    cd07615
    Location:33255
    BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
    cd11803
    Location:296350
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
  3. NM_003027.4NP_003018.3  endophilin-A3 isoform a

    See proteins identical to NP_003018.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (EEN-B2-L1) encodes isoform a.
    Source sequence(s)
    AF036269, AK309086, BC035598
    Consensus CDS
    CCDS10325.2
    UniProtKB/Swiss-Prot
    Q99963
    Related
    ENSP00000391372, OTTHUMP00000211646, ENST00000427482, OTTHUMT00000347797
    Conserved Domains (2) summary
    cd07615
    Location:25247
    BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
    cd11803
    Location:288342
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

RNA

  1. NR_125370.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an additional exon in the 3' region, compared to variant EEN-B2-L1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant EEN-B2-L1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK309086, BC035598, BC042864

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38 Primary Assembly

    Range
    83447228..83618743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720638.1XP_006720701.1  

    Related
    ENSP00000320092, OTTHUMP00000190869, ENST00000324537, OTTHUMT00000304005
    Conserved Domains (2) summary
    cd07615
    Location:33255
    BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
    cd11803
    Location:296350
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
  2. XM_006720640.1XP_006720703.1  

    See proteins identical to XP_006720703.1

    Conserved Domains (1) summary
    cl12013
    Location:33216
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_006720639.1XP_006720702.1  

    See proteins identical to XP_006720702.1

    Conserved Domains (1) summary
    cl12013
    Location:33216
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. XR_429469.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    83857704..84029128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 Alternate HuRef

    Range
    60379941..60551319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)