Human Gene SH3GLB1 (uc001dly.3) Description and Page Index
  Description: Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.
RefSeq Summary (NM_001206651): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:87,170,253-87,213,867 Size: 43,615 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:87,170,583-87,208,918 Size: 38,336 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:87,170,253-87,213,867)mRNA (may differ from genome)Protein (394 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SHLB1_HUMAN
DESCRIPTION: RecName: Full=Endophilin-B1; AltName: Full=Bax-interacting factor 1; Short=Bif-1; AltName: Full=SH3 domain-containing GRB2-like protein B1;
FUNCTION: May be required for normal outer mitochondrial membrane dynamics. Required for coatomer-mediated retrograde transport in certain cells. May recruit other proteins to membranes with high curvature. May promote membrane fusion.
SUBUNIT: Binds DNM1, HTT, AMPH, BIN1 and ARFGAP1 (By similarity). Homodimer, and heterodimer with SH3GLB2. Binds BAX. Induction of apoptosis augments BAX binding.
INTERACTION: Self; NbExp=4; IntAct=EBI-2623095, EBI-2623095; Q07812:BAX; NbExp=2; IntAct=EBI-5291808, EBI-516580; P24522:GADD45A; NbExp=2; IntAct=EBI-2623095, EBI-448167; Q9NR46:SH3GLB2; NbExp=5; IntAct=EBI-2623095, EBI-749607;
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein (By similarity). Mitochondrion outer membrane; Peripheral membrane protein. Note=Association with the Golgi apparatus depends on the cell type (By similarity).
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.
DOMAIN: An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.
PTM: Phosphorylated at Thr-145 by CDK5; this phosphorylation is required for autophagy induction in starved neurons and facilitates homodimerization.
MISCELLANEOUS: HeLa cells lacking SH3GLB1 show dissociation of outer and inner mitochondrial membrane as well as abnormal mitochondrial morphology. Cells overexpressing SH3GLB1 lacking an N-terminal amphipathic helix show a similar phenotype.
MISCELLANEOUS: SH3GLB1 binds liposomes and induces formation of tubules from liposomes. SH3GLB1 lacking the N-terminal amphipathic helix fails to induce liposome tubulation.
SIMILARITY: Belongs to the endophilin family.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 SH3 domain.
CAUTION: It is uncertain whether Met-1 or Met-4 is the initiator.
CAUTION: Was originally (PubMed:12456676) thought to have lysophosphatidic acid acyltransferase activity, but by homology with SH3GL2/endophilin A1 is unlikely to have this activity.
SEQUENCE CAUTION: Sequence=AAF81225.1; Type=Erroneous initiation; Sequence=BAD88797.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SH3GLB1
CDC HuGE Published Literature: SH3GLB1

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.91 RPKM in Muscle - Skeletal
Total median expression: 876.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.79330-0.418 Picture PostScript Text
3' UTR -1307.164949-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004148 - BAR_dom
IPR013606 - IRSp53/MIM_homology_IMD
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF03114 - BAR domain
PF07653 - Variant SH3 domain
PF10455 - Bin/amphiphysin/Rvs domain for vesicular trafficking
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q9Y371
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding

Biological Process:
GO:0006914 autophagy
GO:0006915 apoptotic process
GO:0010508 positive regulation of autophagy
GO:0016241 regulation of macroautophagy
GO:0031647 regulation of protein stability
GO:0032461 positive regulation of protein oligomerization
GO:0032465 regulation of cytokinesis
GO:0032801 receptor catabolic process
GO:0034198 cellular response to amino acid starvation
GO:0042149 cellular response to glucose starvation
GO:0048102 autophagic cell death
GO:0051259 protein oligomerization
GO:0090148 membrane fission
GO:1903527 positive regulation of membrane tubulation
GO:1903778 protein localization to vacuolar membrane
GO:1903955 positive regulation of protein targeting to mitochondrion
GO:2000786 positive regulation of autophagosome assembly

Cellular Component:
GO:0000139 Golgi membrane
GO:0000421 autophagosome membrane
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0030496 midbody
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AK303710 - Homo sapiens cDNA FLJ50346 complete cds, highly similar to SH3 domain GRB2-like protein B1 (EC 2.3.1.-).
AB007960 - Homo sapiens KIAA0491 mRNA.
AK225864 - Homo sapiens mRNA for Splice isoform 2 of Q9Y371 variant, clone: FCC124G10.
AK001954 - Homo sapiens cDNA FLJ11092 fis, clone PLACE1005327.
AF350371 - Homo sapiens Bax-interacting factor 1 (Bif-1) mRNA, complete cds.
BC007455 - Homo sapiens SH3-domain GRB2-like endophilin B1, mRNA (cDNA clone MGC:901 IMAGE:2988769), complete cds.
HM005485 - Homo sapiens clone HTL-T-172 testicular tissue protein Li 172 mRNA, complete cds.
AF257318 - Homo sapiens SH3-containing protein SH3GLB1 mRNA, complete cds.
AF151819 - Homo sapiens CGI-61 protein mRNA, complete cds.
AF263293 - Homo sapiens endophilin B1 mRNA, complete cds.
AB385341 - Synthetic construct DNA, clone: pF1KA0491, Homo sapiens SH3GLB1 gene for SH3 domain GRB2-like protein B1, complete cds, without stop codon, in Flexi system.
DQ896273 - Synthetic construct Homo sapiens clone IMAGE:100010733; FLH191818.01L; RZPDo839H0467D SH3-domain GRB2-like endophilin B1 (SH3GLB1) gene, encodes complete protein.
DQ893029 - Synthetic construct clone IMAGE:100005659; FLH191822.01X; RZPDo839H0477D SH3-domain GRB2-like endophilin B1 (SH3GLB1) gene, encodes complete protein.
KJ893810 - Synthetic construct Homo sapiens clone ccsbBroadEn_03204 SH3GLB1 gene, encodes complete protein.
JD362911 - Sequence 343935 from Patent EP1572962.
JD284357 - Sequence 265381 from Patent EP1572962.
JD076597 - Sequence 57621 from Patent EP1572962.
JD223290 - Sequence 204314 from Patent EP1572962.
JD222660 - Sequence 203684 from Patent EP1572962.
JD105620 - Sequence 86644 from Patent EP1572962.
JD026968 - Sequence 7992 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

BioCarta from NCI Cancer Genome Anatomy Project
h_cblPathway - CBL mediated ligand-induced downregulation of EGF receptors

-  Other Names for This Gene
  Alternate Gene Symbols: CGI-61, KIAA0491, NM_001206651, NP_001193580, Q5H8U5, Q9H3Z0, Q9NR47, Q9NYA9, Q9Y371, SHLB1_HUMAN
UCSC ID: uc001dly.3
RefSeq Accession: NM_001206651
Protein: Q9Y371 (aka SHLB1_HUMAN or SHB1_HUMAN)
CCDS: CCDS55612.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001206651.1
exon count: 10CDS single in 3' UTR: no RNA size: 6469
ORF size: 1185CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2570.00frame shift in genome: no % Coverage: 99.92
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.