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Sh3glb1 SH3-domain GRB2-like B1 (endophilin) [ Mus musculus (house mouse) ]

Gene ID: 54673, updated on 13-Jan-2025

Summary

Official Symbol
Sh3glb1provided by MGI
Official Full Name
SH3-domain GRB2-like B1 (endophilin)provided by MGI
Primary source
MGI:MGI:1859730
See related
Ensembl:ENSMUSG00000037062 AllianceGenome:MGI:1859730
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Bif-1; mKIAA0491
Summary
Enables fatty acid binding activity; lysophosphatidic acid acyltransferase activity; and phosphatidylinositol 3-kinase activator activity. Involved in several processes, including autophagic cell death; positive regulation of autophagosome assembly; and regulation of intrinsic apoptotic signaling pathway by p53 class mediator. Acts upstream of or within 'de novo' post-translational protein folding; phosphatidic acid biosynthetic process; and positive regulation of establishment of protein localization to mitochondrion. Located in membrane. Part of protein-containing complex. Is expressed in several structures, including cerebellum; cerebral cortex; otocyst; and spleen. Orthologous to human SH3GLB1 (SH3 domain containing GRB2 like, endophilin B1). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in testis adult (RPKM 28.5), CNS E18 (RPKM 9.1) and 27 other tissues See more
Orthologs
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Genomic context

See Sh3glb1 in Genome Data Viewer
Location:
3 H2; 3 69.0 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (144389426..144426186, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (144683665..144720408, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:144233322-144233673 Neighboring gene selenoprotein F Neighboring gene STARR-seq mESC enhancer starr_09182 Neighboring gene ribosomal protein L9, pseudogene 8 Neighboring gene STARR-seq mESC enhancer starr_09183 Neighboring gene STARR-positive B cell enhancer ABC_E7949 Neighboring gene STARR-positive B cell enhancer mm9_chr3:144367228-144367528 Neighboring gene STARR-positive B cell enhancer ABC_E2099 Neighboring gene chloride channel accessory 3A1 Neighboring gene BCL2/adenovirus E1B interacting protein 3 pseudogene Neighboring gene predicted gene, 34866

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (1)  1 citation

Interactions

General gene information

Clone Names

  • KIAA0491

Gene Ontology Provided by MGI

Items 1 - 25 of 29
Process Evidence Code Pubs
acts_upstream_of_or_within 'de novo' post-translational protein folding PubMed 
acts_upstream_of apoptotic process PubMed 
acts_upstream_of_or_within apoptotic process PubMed 
involved_in autophagic cell death PubMed 
involved_in autophagic cell death  
involved_in cellular response to amino acid starvation  
involved_in cellular response to glucose starvation  
involved_in membrane fission  
involved_in membrane organization  
involved_in mitochondrion organization PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator PubMed 
acts_upstream_of_or_within phosphatidic acid biosynthetic process PubMed 
acts_upstream_of_or_within phospholipid biosynthetic process PubMed 
involved_in positive regulation of autophagosome assembly PubMed 
involved_in positive regulation of autophagosome assembly  
involved_in positive regulation of autophagy PubMed 
involved_in positive regulation of autophagy  
involved_in positive regulation of dendrite extension  
involved_in positive regulation of dendrite morphogenesis  
acts_upstream_of_or_within positive regulation of establishment of protein localization to mitochondrion PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator PubMed 
involved_in positive regulation of membrane tubulation  
involved_in positive regulation of neurotrophin TRK receptor signaling pathway  
involved_in positive regulation of protein-containing complex assembly  
involved_in protein localization to vacuolar membrane PubMed 
involved_in protein localization to vacuolar membrane  
involved_in receptor catabolic process  
involved_in regulation of cytokinesis  
involved_in regulation of early endosome to late endosome transport  
Items 1 - 25 of 29
Component Evidence Code Pubs
located_in Golgi membrane  
located_in autophagosome membrane  
located_in autophagosome membrane  
located_in cytoplasm  
located_in cytoplasmic vesicle  
located_in cytosol PubMed 
located_in early endosome  
located_in endoplasmic reticulum PubMed 
is_active_in membrane  
located_in membrane PubMed 
located_in midbody  
located_in midbody  
located_in mitochondrial envelope PubMed 
located_in mitochondrial outer membrane  
located_in neuronal cell body  
part_of protein-containing complex PubMed 
part_of protein-containing complex  
located_in synaptic vesicle  

General protein information

Preferred Names
endophilin-B1
Names
SH3 domain-containing GRB2-like protein B1

NCBI Reference Sequences (RefSeq)

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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_001282037.1NP_001268966.1  endophilin-B1 isoform 1

    See identical proteins and their annotated locations for NP_001268966.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC134404, AK052668, AK172959, AW050200
    Consensus CDS
    CCDS80043.1
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Related
    ENSMUSP00000143312.2, ENSMUST00000198254.5
    Conserved Domains (2) summary
    cd07616
    Location:24273
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:326386
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
  2. NM_001282042.1NP_001268971.1  endophilin-B1 isoform 3

    See identical proteins and their annotated locations for NP_001268971.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and alternate exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC134404, AK158415
    Consensus CDS
    CCDS80042.1
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Related
    ENSMUSP00000143433.2, ENSMUST00000199531.5
    Conserved Domains (2) summary
    cd07616
    Location:24252
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cl17036
    Location:305355
    SH3; Src Homology 3 domain superfamily
  3. NM_001379170.1NP_001366099.1  endophilin-B1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC134404
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Conserved Domains (2) summary
    cd07616
    Location:24289
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:342402
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
  4. NM_001379171.1NP_001366100.1  endophilin-B1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC134404
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Conserved Domains (2) summary
    cd07616
    Location:24273
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cl17036
    Location:326376
    SH3; Src Homology 3 domain superfamily
  5. NM_001379172.1NP_001366101.1  endophilin-B1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC134404
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Conserved Domains (2) summary
    cd07616
    Location:24273
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cl17036
    Location:326351
    SH3; Src Homology 3 domain superfamily
  6. NM_001379173.1NP_001366102.1  endophilin-B1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC134404
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Conserved Domains (2) summary
    cd07616
    Location:24252
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cl17036
    Location:305330
    SH3; Src Homology 3 domain superfamily
  7. NM_001379174.1NP_001366103.1  endophilin-B1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC134404
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Conserved Domains (2) summary
    cd07616
    Location:24289
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cl17036
    Location:342392
    SH3; Src Homology 3 domain superfamily
  8. NM_019464.3NP_062337.1  endophilin-B1 isoform 2

    See identical proteins and their annotated locations for NP_062337.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC134404, AK052668, AK172959, AW050200
    Consensus CDS
    CCDS17885.1
    UniProtKB/Swiss-Prot
    Q3TYR7, Q6A059, Q8CDS9, Q8VI52, Q9CT31, Q9JK48
    UniProtKB/TrEMBL
    A0A0G2JEC4
    Related
    ENSMUSP00000129800.2, ENSMUST00000163279.6
    Conserved Domains (2) summary
    cd07616
    Location:24252
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:305365
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    144389426..144426186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501717.3XP_006501780.1  endophilin-B1 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JEC4
    Related
    ENSMUSP00000142716.2, ENSMUST00000199854.5
    Conserved Domains (2) summary
    cl12013
    Location:24289
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl17036
    Location:342367
    SH3; Src Homology 3 domain superfamily
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