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Protein

Endophilin-B1

Gene

SH3GLB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

GO - Molecular functioni

  • cadherin binding 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 complex oligomerization Source: UniProtKB
  • protein localization to vacuolar membrane 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

Keywordsi

Biological processApoptosis, Autophagy
LigandLipid-binding

Enzyme and pathway databases

SignaLinkiQ9Y371
SIGNORiQ9Y371

Protein family/group databases

TCDBi8.A.34.1.4 the endophilin (endophilin) family

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

EuPathDBiHostDB:ENSG00000097033.14
HGNCiHGNC:10833 SH3GLB1
MIMi609287 gene
neXtProtiNX_Q9Y371

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi85978
85979 [Q9Y371-2]

2D gel databases

REPRODUCTION-2DPAGEiIPI00006558

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

Show more details

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: HGNC

Protein-protein interaction databases

BioGridi119289, 76 interactors
DIPiDIP-41970N
IntActiQ9Y371, 83 interactors
MINTiQ9Y371

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

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

GeneTreeiENSGT00550000074464
HOGENOMiHOG000232056
HOVERGENiHBG054448
InParanoidiQ9Y371
KOiK11248
PhylomeDBiQ9Y371
TreeFamiTF313281

Family and domain databases

CDDicd07616 BAR_Endophilin_B1, 1 hit
Gene3Di1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR004148 BAR_dom
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR028503 SH3GLB1
IPR035695 SH3GLB1_BAR
PANTHERiPTHR44071:SF3 PTHR44071:SF3, 1 hit
PfamiView protein in Pfam
PF03114 BAR, 1 hit
PF14604 SH3_9, 1 hit
SMARTiView protein in SMART
SM00721 BAR, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
SSF50044 SSF50044, 2 hits
PROSITEiView protein in PROSITE
PS51021 BAR, 1 hit
PS50002 SH3, 1 hit

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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiSHLB1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y371
Secondary accession number(s): B4E182
, Q5H8U5, Q9H3Z0, Q9NR47, Q9NYA9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: November 1, 1999
Last modified: July 18, 2018
This is version 166 of the entry and version 1 of the sequence. See 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

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

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