1. Gene
  2. SH3GLB1 - SH3 domain containing GRB2 like, endophilin B1 Gene

SH3GLB1 - SH3 domain containing GRB2 like, endophilin B1 Gene

Homo sapiens

Also known as Bif-1; CGI-61; PPP1R70; dJ612B15.2

Gene ID: 51100 | Gene type: protein coding

About SH3GLB1

Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:86,704,576-86,748,184 (from NCBI)

This gene has 6 transcripts (splice variants), 275 orthologues and 12 paralogues. Ubiquitous expression in fat (RPKM 36.8), testis (RPKM 20.8) and 25 other tissues.

Summary

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 also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

SH3GLB1 Products(5)

mRNA Protein Name
NM_001206651.2 NP_001193580.1 endophilin-B1 isoform 2
NM_001206652.2 NP_001193581.1 endophilin-B1 isoform 3
NM_001206653.2 NP_001193582.1 endophilin-B1 isoform 4
NM_001410824.1 NP_001397753.1 endophilin-B1 isoform 5
NM_016009.5 NP_057093.1 endophilin-B1 isoform 1

SH3GLB1 Protein Structure

BAR

BAR: BAR domain (19 - 253)

SH3_9

SH3_9: Variant SH3 domain (312 - 362)

  • 0
  • 100
  • 200
  • 300
  • 365 a.a.
Protein Preferred Names Protein Names

endophilin-B1

Bax-interacting factor 1

Related Diseases

Diseases Alias
Noonan Syndrome 5

NS5

Noonan Syndrome, Type 5

Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

Taeniasis

Beef Tapeworm Infection

Infection By Taeniarhynchus Saginatus

Taenia Saginata Infectious Disease

Taenia Saginata Infection

Pork Tapeworm Infection

Armed Tapeworm Infection

Infection By Taenia Solium

Intestinal Taenia Solium Infection

Pork Tapeworm

Taenia Solium Taeniasis

Adult Pork Tapeworm Infection

Adult Pork Tapeworm

Beef Tapeworm

Infection By Taenia Saginata

Unarmed Tapeworm Infection

Taenia Saginata Taeniasis

Infection Due To Adult Tapeworm Taenia Saginata

Mediocanellata Taenia Infection

Infestation By Taenia Saginata

Infestation By Taenia Mediocanellata

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SH3GLB1 VGNC VGNC:77206
Bos taurus SH3GLB1 VGNC VGNC:34575
Rattus norvegicus SH3GLB1 RGD RGD:1304859
Canis familiaris SH3GLB1 VGNC VGNC:46127
Mus musculus SH3GLB1 MGD MGI:1859730
Felis catus SH3GLB1 VGNC VGNC:65109