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SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 [ Homo sapiens (human) ]

Gene ID: 6457, updated on 7-Dec-2018

Summary

Official Symbol
SH3GL3provided by HGNC
Official Full Name
SH3 domain containing GRB2 like 3, endophilin A3provided by HGNC
Primary source
HGNC:HGNC:10832
See related
Ensembl:ENSG00000140600 MIM:603362
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
Expression
Biased expression in testis (RPKM 8.3), brain (RPKM 5.2) and 1 other tissue See more
Orthologs

Genomic context

See SH3GL3 in Genome Data Viewer
Location:
15q25.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (83447123..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 uncharacterized LOC105370933 Neighboring gene uncharacterized LOC105370934 Neighboring gene ADAMTS like 3 Neighboring gene RNA, U6 small nuclear 401, pseudogene Neighboring gene tubulin alpha pseudogene 4

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • EGFR downregulation, organism-specific biosystem (from REACTOME)
    EGFR downregulation, organism-specific biosystemRegulation of receptor tyrosine kinase (RTK) activity is implicated in the control of almost all cellular functions. One of the best understood RTKs is epidermal growth factor receptor (EGFR). Growth...
  • 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...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • InlB-mediated entry of Listeria monocytogenes into host cell, organism-specific biosystem (from REACTOME)
    InlB-mediated entry of Listeria monocytogenes into host cell, organism-specific biosystemInlB, a cell wall protein of Listeria monocytogenes, binds MET receptor, acting as an HGF agonist (Shen et al. 2000, Veiga and Cossart 2005). Listeria monocytogenes InlB proteins dimerize through the...
  • Listeria monocytogenes entry into host cells, organism-specific biosystem (from REACTOME)
    Listeria monocytogenes entry into host cells, organism-specific biosystemListeria monocytogenes is a short, gram-positive, nonspore-forming motile rod. Serotypes 1/2a, 1/2b and 4b make up more than 95% of isolates from humans, with serotype 4b causing most of the food-bor...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Negative regulation of MET activity, organism-specific biosystem (from REACTOME)
    Negative regulation of MET activity, organism-specific biosystemSignaling by MET receptor is negatively regulated mainly by MET receptor dephosphorylation or MET receptor degradation. Protein tyrosine phosphatase PTPRJ dephosphorylates MET tyrosine residue Y1349,...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 C-terminus 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
 
negative regulation of clathrin-dependent endocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density, intracellular component IEA
Inferred from Electronic Annotation
more info
 
postsynaptic endosome IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
endophilin-A3
Names
SH3 domain containing GRB2 like endophilin A3
SH3 domain protein 2C
SH3 domain-containing GRB2-like protein 3
SH3-domain GRB2-like 3
endophilin-3

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_001301108.1NP_001288037.1  endophilin-A3 isoform b

    See identical proteins and their annotated locations for 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. Variants 2, 9, and 14 all encode the same isoform (b).
    Source sequence(s)
    AK307442, AK309086, BC035598
    UniProtKB/Swiss-Prot
    Q99963
    UniProtKB/TrEMBL
    A0A024R215
    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 identical proteins and their annotated locations for 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
    Related
    ENSP00000320092.5, ENST00000324537.5
    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_001324182.1NP_001311111.1  endophilin-A3 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
  4. NM_001324183.1NP_001311112.1  endophilin-A3 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
    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
  5. NM_001324184.1NP_001311113.1  endophilin-A3 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
    Conserved Domains (2) summary
    cd07615
    Location:1212
    BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
    cd11803
    Location:253307
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
  6. NM_001324185.1NP_001311114.1  endophilin-A3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 2 and 14, encodes isoform b (also called isoform f).
    Source sequence(s)
    AC025483, AC087738, AC090083
    UniProtKB/Swiss-Prot
    Q99963
    UniProtKB/TrEMBL
    A0A024R215
    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
  7. NM_001324186.1NP_001311115.1  endophilin-A3 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
    Conserved Domains (2) summary
    cd07615
    Location:1212
    BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
    cd11803
    Location:253307
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
  8. NM_001324187.1NP_001311116.1  endophilin-A3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 2 and 9, encodes isoform b (also called isoform f).
    Source sequence(s)
    AC025483, AC087738, AC090083
    UniProtKB/Swiss-Prot
    Q99963
    UniProtKB/TrEMBL
    A0A024R215
    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
  9. NM_003027.5NP_003018.3  endophilin-A3 isoform a

    See identical proteins and their annotated locations for 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
    ENSP00000391372.2, ENST00000427482.6
    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
  2. NR_136711.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
  3. NR_136712.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
  4. NR_136713.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
  5. NR_136714.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC025483, AC087738, AC090083
    Related
    ENST00000563901.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    83447123..83618743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521889.1XP_011520191.1  endophilin-A3 isoform X1

    See identical proteins and their annotated locations for XP_011520191.1

    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
  2. XM_011521891.2XP_011520193.1  endophilin-A3 isoform X3

    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_024450017.1XP_024305785.1  endophilin-A3 isoform X4

    Conserved Domains (1) summary
    cl12013
    Location:25208
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_011521892.2XP_011520194.1  endophilin-A3 isoform X5

    Conserved Domains (1) summary
    cl12013
    Location:33217
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. XM_017022486.2XP_016877975.1  endophilin-A3 isoform X2

    UniProtKB/Swiss-Prot
    Q99963
    UniProtKB/TrEMBL
    A0A024R215
    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

RNA

  1. XR_931878.2 RNA Sequence

  2. XR_931882.2 RNA Sequence

  3. XR_001751375.1 RNA Sequence

  4. XR_001751373.1 RNA Sequence

  5. XR_001751372.1 RNA Sequence

  6. XR_931879.2 RNA Sequence

  7. XR_002957669.1 RNA Sequence

  8. XR_931880.1 RNA Sequence

  9. XR_001751374.2 RNA Sequence

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