• Gene id: 51100

Gene Summary

• Gene Symbol: SH3GLB1   Gene   UCSC   Ensembl
• Aliases: Bif-1, CGI-61, PPP1R70, dJ612B15.2
• Gene name: SH3 domain containing GRB2 like, endophilin B1
• Alternate names: endophilin-B1, Bax-interacting factor 1, SH3 domain-containing GRB2-like protein B1, SH3-containing protein SH3GLB1, SH3-domain GRB2 like endophilin B1, protein phosphatase 1, regulatory subunit 70, testicular tissue protein Li 172,
• Gene location: 1p22.3 (86704569: 86748183)     Exons: 12     NC_000001.11
• Gene summary(Entrez): This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may
• OMIM: 609287

Protein Summary

• Protein general information: Q9Y371  
  • Name: Endophilin B1 (Bax interacting factor 1) (Bif 1) (SH3 domain containing GRB2 like protein B1)
  • Length: 365  
  • Mass: 40796
  • Tissue specificity: Highly expressed in heart, skeletal muscle, kidney and placenta. Detected at lower levels in brain, colon, thymus, spleen, liver, small intestine, lung and peripheral blood leukocytes. {ECO
• Sequence:

  MNIMDFNVKKLAADAGTFLSRAVQFTEEKLGQAEKTELDAHLENLLSKAECTKIWTEKIMKQTEVLLQPNPNARI
  EEFVYEKLDRKAPSRINNPELLGQYMIDAGTEFGPGTAYGNALIKCGETQKRIGTADRELIQTSALNFLTPLRNF
  IEGDYKTIAKERKLLQNKRLDLDAAKTRLKKAKAAETRNSSEQELRITQSEFDRQAEITRLLLEGISSTHAHHLR
  CLNDFVEAQMTYYAQCYQYMLDLQKQLGSFPSNYLSNNNQTSVTPVPSVLPNAIGSSAMASTSGLVITSPSNLSD
  LKECSGSRKARVLYDYDAANSTELSLLADEVITVFSVVGMDSDWLMGERGNQKGKVPITYLELLN

• Structural information:
  • Protein Domains: (27..26-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (305..36-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR004148  IPR036028  IPR001452  IPR028503   IPR035695  
  • Prosite: PS51021 PS50002
  • CDD: cd07616
  • DIP: 41970
  • STRING: ENSP00000479919
• Other Databases: GeneCards:  SH3GLB1  Malacards:  SH3GLB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0031647	regulation of protein stability	HMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000421	autophagosome membrane	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0048102	autophagic cell death	IMP	biological process
GO:0032801	receptor catabolic process	IMP	biological process
GO:1903778	protein localization to vacuolar membrane	IMP	biological process
GO:2000786	positive regulation of autophagosome assembly	IMP	biological process
GO:0090148	membrane fission	IMP	biological process
GO:0042149	cellular response to glucose starvation	IMP	biological process
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0010508	positive regulation of autophagy	IMP	biological process
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:1903527	positive regulation of membrane tubulation	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0031334	positive regulation of protein-containing complex assembly	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04140	Autophagy - animal

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R