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

Gene ID: 54673, updated on 23-Jun-2021

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
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-; Bif-1; AA409932; AI314629; AU015566; mKIAA0491
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; 3 H2
Exon count:
12
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (144351808..144383287, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene selenoprotein F Neighboring gene ribosomal protein L9, pseudogene 8 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)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0491

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables fatty acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
enables lysophosphatidic acid acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within 'de novo' posttranslational protein folding IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within apoptotic process ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in autophagic cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagic cell death ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to amino acid starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to glucose starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane fission ISO
Inferred from Sequence Orthology
more info
 
involved_in mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phosphatidic acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within phospholipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of autophagosome assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of autophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of dendrite extension ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of dendrite morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of membrane tubulation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neurotrophin TRK receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of phosphatidylinositol 3-kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to vacuolar membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to vacuolar membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in receptor catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cytokinesis ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of early endosome to late endosome transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in autophagosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IC
Inferred by Curator
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in midbody ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial envelope ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

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_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/Swiss-Prot
    Q9JK48
    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/Swiss-Prot
    Q9JK48
    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
    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
    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
    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
    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
    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
    Q9JK48
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    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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