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Protein

Endophilin-B1

Gene

SH3GLB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be required for normal outer mitochondrial membrane dynamics (PubMed:15452144). Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion (PubMed:11604418). Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation (PubMed:16227588). Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2) (PubMed:17891140). Associated with PI3KC3-C2 during autophagy may regulate the trafficking of ATG9A from the Golgi complex to the peripheral cytoplasm for the formation of autophagosomes by inducing Golgi membrane tubulation and fragmentation (PubMed:21068542). Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123). Isoform 2 acts antiapoptotic in neuronal cells; involved in maintenance of mitochondrial morphology and promotes neuronal viability (By similarity).By similarity5 Publications

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • identical protein binding Source: IntAct
  • lipid binding Source: UniProtKB-KW
  • protein homodimerization activity Source: HGNC

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • autophagic cell death Source: UniProtKB
  • autophagy Source: UniProtKB-KW
  • cellular response to amino acid starvation Source: UniProtKB
  • cellular response to glucose starvation Source: UniProtKB
  • membrane fission Source: UniProtKB
  • positive regulation of autophagosome assembly Source: UniProtKB
  • positive regulation of autophagy Source: UniProtKB
  • positive regulation of membrane tubulation Source: UniProtKB
  • positive regulation of protein oligomerization Source: UniProtKB
  • positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
  • protein localization to vacuolar membrane Source: UniProtKB
  • protein oligomerization Source: UniProtKB
  • receptor catabolic process Source: UniProtKB
  • regulation of cytokinesis Source: UniProtKB
  • regulation of macroautophagy Source: ParkinsonsUK-UCL
  • regulation of protein stability Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Autophagy

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

SignaLinkiQ9Y371.
SIGNORiQ9Y371.

Names & Taxonomyi

Protein namesi
Recommended name:
Endophilin-B1
Alternative name(s):
Bax-interacting factor 1
Short name:
Bif-1
SH3 domain-containing GRB2-like protein B1
Gene namesi
Name:SH3GLB1
Synonyms:KIAA0491
ORF Names:CGI-61
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10833. SH3GLB1.

Subcellular locationi

GO - Cellular componenti

  • autophagosome membrane Source: UniProtKB
  • cell-cell adherens junction Source: BHF-UCL
  • cytoplasm Source: HGNC
  • cytoplasmic vesicle Source: UniProtKB-KW
  • extracellular exosome Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • midbody Source: UniProtKB
  • mitochondrial outer membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi8V → M: Abolishes interaction with BAX. 1 Publication1
Mutagenesisi145T → A: Reduced CDK5-mediated phosphorylation and impaired dimerization. 1 Publication1
Mutagenesisi145T → E: Spontaneous dimerization. 1 Publication1

Organism-specific databases

DisGeNETi51100.
OpenTargetsiENSG00000097033.
PharmGKBiPA35739.

Polymorphism and mutation databases

BioMutaiSH3GLB1.
DMDMi41018158.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001467531 – 365Endophilin-B1Add BLAST365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei145Phosphothreonine; by CDK51 Publication1

Post-translational modificationi

Phosphorylated at Thr-145 by CDK5; this phosphorylation is required for autophagy induction in starved neurons and facilitates homodimerization.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y371.
PeptideAtlasiQ9Y371.
PRIDEiQ9Y371.

2D gel databases

REPRODUCTION-2DPAGEIPI00006558.

PTM databases

iPTMnetiQ9Y371.
PhosphoSitePlusiQ9Y371.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000097033.
CleanExiHS_SH3GLB1.
ExpressionAtlasiQ9Y371. baseline and differential.
GenevisibleiQ9Y371. HS.

Organism-specific databases

HPAiCAB004650.
HPA015608.
HPA019900.

Interactioni

Subunit structurei

Homodimer, and heterodimer with SH3GLB2 (PubMed:11161816). Binds BAX; induction of apoptosis augments BAX binding (PubMed:11161816, PubMed:11259440). Binds DNM1, HTT, AMPH, BIN1 and ARFGAP1 (By similarity). Interacts with UVRAG; UVRAG bridges the interaction to BECN1 indicative for an association with the PI3K complex II (PI3KC3-C2) (PubMed:17891140, PubMed:20643123).By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself7EBI-2623095,EBI-2623095
BAXQ078122EBI-5291808,EBI-516580
CMTM5Q96DZ93EBI-2623095,EBI-2548702
FUNDC1Q8IVP53EBI-2623095,EBI-3059266
GADD45AP245222EBI-2623095,EBI-448167
PSMA1P257863EBI-2623095,EBI-359352
SH3GLB2Q9NR4616EBI-2623095,EBI-749607
TFIP11Q9UBB95EBI-2623095,EBI-1105213
TPD52L2Q6FGS13EBI-2623095,EBI-10327230
UVRAGQ9P2Y56EBI-2623095,EBI-2952704
ZNF576Q9H6095EBI-2623095,EBI-3921014

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: HGNC

Protein-protein interaction databases

BioGridi119289. 58 interactors.
DIPiDIP-41970N.
IntActiQ9Y371. 55 interactors.
MINTiMINT-192077.

Structurei

3D structure databases

ProteinModelPortaliQ9Y371.
SMRiQ9Y371.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 261BARPROSITE-ProRule annotationAdd BLAST235
Domaini305 – 365SH3PROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 37Required for membrane binding1 PublicationAdd BLAST37
Regioni1 – 30Membrane-binding amphipathic helixAdd BLAST30

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili155 – 195Sequence analysisAdd BLAST41

Domaini

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.1 Publication
The SH3 domain is required and sufficient for the interaction with UVRAG.1 Publication

Sequence similaritiesi

Belongs to the endophilin family.Curated
Contains 1 BAR domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

GeneTreeiENSGT00550000074464.
HOGENOMiHOG000232056.
HOVERGENiHBG054448.
InParanoidiQ9Y371.
KOiK11248.
PhylomeDBiQ9Y371.
TreeFamiTF313281.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF03114. BAR. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 2 hits.
PROSITEiPS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9Y371-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNIMDFNVKK LAADAGTFLS RAVQFTEEKL GQAEKTELDA HLENLLSKAE
60 70 80 90 100
CTKIWTEKIM KQTEVLLQPN PNARIEEFVY EKLDRKAPSR INNPELLGQY
110 120 130 140 150
MIDAGTEFGP GTAYGNALIK CGETQKRIGT ADRELIQTSA LNFLTPLRNF
160 170 180 190 200
IEGDYKTIAK ERKLLQNKRL DLDAAKTRLK KAKAAETRNS SEQELRITQS
210 220 230 240 250
EFDRQAEITR LLLEGISSTH AHHLRCLNDF VEAQMTYYAQ CYQYMLDLQK
260 270 280 290 300
QLGSFPSNYL SNNNQTSVTP VPSVLPNAIG SSAMASTSGL VITSPSNLSD
310 320 330 340 350
LKECSGSRKA RVLYDYDAAN STELSLLADE VITVFSVVGM DSDWLMGERG
360
NQKGKVPITY LELLN
Length:365
Mass (Da):40,796
Last modified:November 1, 1999 - v1
Checksum:i42C2AEA57A0B350E
GO
Isoform 2 (identifier: Q9Y371-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     190-190: S → SQLNSARLEGDNIMIWAEEVTK

Show »
Length:386
Mass (Da):43,196
Checksum:i37C3D1F9338BCC5A
GO
Isoform 3 (identifier: Q9Y371-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Note: No experimental confirmation available.
Show »
Length:265
Mass (Da):29,318
Checksum:i200A8BB41A8ED20B
GO

Sequence cautioni

The sequence AAF81225 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD88797 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0448951 – 100Missing in isoform 3. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_009276190S → SQLNSARLEGDNIMIWAEEV TK in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257318 mRNA. Translation: AAF81225.1. Different initiation.
AF350371 mRNA. Translation: AAK27365.1.
AF263293 mRNA. Translation: AAF73017.1.
AB007960 mRNA. Translation: BAD88797.1. Different initiation.
AF151819 mRNA. Translation: AAD34056.1.
AK001954 mRNA. Translation: BAA91999.1.
AK303710 mRNA. Translation: BAG64694.1.
AL049597 Genomic DNA. Translation: CAC10394.1.
AL049597 Genomic DNA. Translation: CAC10395.1.
BC007455 mRNA. Translation: AAH07455.1.
CCDSiCCDS55612.1. [Q9Y371-2]
CCDS55613.1. [Q9Y371-3]
CCDS710.1. [Q9Y371-1]
RefSeqiNP_001193580.1. NM_001206651.1.
NP_001193581.1. NM_001206652.1. [Q9Y371-2]
NP_001193582.1. NM_001206653.1. [Q9Y371-3]
NP_057093.1. NM_016009.4. [Q9Y371-1]
UniGeneiHs.136309.

Genome annotation databases

EnsembliENST00000370558; ENSP00000473267; ENSG00000097033. [Q9Y371-1]
ENST00000482504; ENSP00000418744; ENSG00000097033. [Q9Y371-2]
ENST00000535010; ENSP00000441355; ENSG00000097033. [Q9Y371-3]
GeneIDi51100.
KEGGihsa:51100.
UCSCiuc001dlw.4. human. [Q9Y371-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257318 mRNA. Translation: AAF81225.1. Different initiation.
AF350371 mRNA. Translation: AAK27365.1.
AF263293 mRNA. Translation: AAF73017.1.
AB007960 mRNA. Translation: BAD88797.1. Different initiation.
AF151819 mRNA. Translation: AAD34056.1.
AK001954 mRNA. Translation: BAA91999.1.
AK303710 mRNA. Translation: BAG64694.1.
AL049597 Genomic DNA. Translation: CAC10394.1.
AL049597 Genomic DNA. Translation: CAC10395.1.
BC007455 mRNA. Translation: AAH07455.1.
CCDSiCCDS55612.1. [Q9Y371-2]
CCDS55613.1. [Q9Y371-3]
CCDS710.1. [Q9Y371-1]
RefSeqiNP_001193580.1. NM_001206651.1.
NP_001193581.1. NM_001206652.1. [Q9Y371-2]
NP_001193582.1. NM_001206653.1. [Q9Y371-3]
NP_057093.1. NM_016009.4. [Q9Y371-1]
UniGeneiHs.136309.

3D structure databases

ProteinModelPortaliQ9Y371.
SMRiQ9Y371.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119289. 58 interactors.
DIPiDIP-41970N.
IntActiQ9Y371. 55 interactors.
MINTiMINT-192077.

PTM databases

iPTMnetiQ9Y371.
PhosphoSitePlusiQ9Y371.

Polymorphism and mutation databases

BioMutaiSH3GLB1.
DMDMi41018158.

2D gel databases

REPRODUCTION-2DPAGEIPI00006558.

Proteomic databases

EPDiQ9Y371.
PeptideAtlasiQ9Y371.
PRIDEiQ9Y371.

Protocols and materials databases

DNASUi51100.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370558; ENSP00000473267; ENSG00000097033. [Q9Y371-1]
ENST00000482504; ENSP00000418744; ENSG00000097033. [Q9Y371-2]
ENST00000535010; ENSP00000441355; ENSG00000097033. [Q9Y371-3]
GeneIDi51100.
KEGGihsa:51100.
UCSCiuc001dlw.4. human. [Q9Y371-1]

Organism-specific databases

CTDi51100.
DisGeNETi51100.
GeneCardsiSH3GLB1.
HGNCiHGNC:10833. SH3GLB1.
HPAiCAB004650.
HPA015608.
HPA019900.
MIMi609287. gene.
neXtProtiNX_Q9Y371.
OpenTargetsiENSG00000097033.
PharmGKBiPA35739.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00550000074464.
HOGENOMiHOG000232056.
HOVERGENiHBG054448.
InParanoidiQ9Y371.
KOiK11248.
PhylomeDBiQ9Y371.
TreeFamiTF313281.

Enzyme and pathway databases

SignaLinkiQ9Y371.
SIGNORiQ9Y371.

Miscellaneous databases

ChiTaRSiSH3GLB1. human.
GeneWikiiSH3GLB1.
GenomeRNAii51100.
PROiQ9Y371.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000097033.
CleanExiHS_SH3GLB1.
ExpressionAtlasiQ9Y371. baseline and differential.
GenevisibleiQ9Y371. HS.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF03114. BAR. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 2 hits.
PROSITEiPS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSHLB1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y371
Secondary accession number(s): B4E182
, Q5H8U5, Q9H3Z0, Q9NR47, Q9NYA9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 151 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.
SH3GLB1 binds liposomes and induces formation of tubules from liposomes. SH3GLB1 lacking the N-terminal amphipathic helix fails to induce liposome tubulation.

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.Curated
Was originally thought to have lysophosphatidic acid acyltransferase activity, but by homology with SH3GL2/endophilin A1 is unlikely to have this activity.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.