UniProtKB - Q92990 (GLMN_HUMAN)
Glomulin
GLMN
Functioni
Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924).
Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924).
Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651).
Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity).
Essential for normal development of the vasculature (PubMed:11845407).
Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281).
By similarity4 PublicationsGO - Molecular functioni
- hepatocyte growth factor receptor binding Source: MGI
- signaling receptor binding Source: MGI
- ubiquitin protein ligase binding Source: MGI
- ubiquitin-protein transferase inhibitor activity Source: MGI
GO - Biological processi
- cell surface receptor signaling pathway Source: MGI
- muscle cell differentiation Source: UniProtKB
- negative regulation of cell population proliferation Source: MGI
- negative regulation of T cell proliferation Source: UniProtKB
- neural tube closure Source: Ensembl
- positive regulation of cytokine production Source: UniProtKB
- positive regulation of interleukin-2 production Source: MGI
- positive regulation of phosphorylation Source: UniProtKB
- regulation of gene expression, epigenetic Source: UniProtKB
- regulation of proteasomal ubiquitin-dependent protein catabolic process Source: MGI
- vasculogenesis Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q92990 |
Reactomei | R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
SignaLinki | Q92990 |
SIGNORi | Q92990 |
Names & Taxonomyi
Protein namesi | Recommended name: GlomulinAlternative name(s): FK506-binding protein-associated protein Short name: FAP FKBP-associated protein |
Gene namesi | Name:GLMN Synonyms:FAP481 Publication, FAP681 Publication, VMGLOM |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14373, GLMN |
MIMi | 601749, gene |
neXtProti | NX_Q92990 |
VEuPathDBi | HostDB:ENSG00000174842 |
Subcellular locationi
Other locations
- Cul2-RING ubiquitin ligase complex Source: MGI
- Cul3-RING ubiquitin ligase complex Source: MGI
- Cul4A-RING E3 ubiquitin ligase complex Source: MGI
- cullin-RING ubiquitin ligase complex Source: MGI
- cytoplasm Source: GO_Central
Pathology & Biotechi
Involvement in diseasei
Glomuvenous malformations (GVMs)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017241 | 393 | Missing in GVMs; loss of interaction with CUL1 and RBX1. 2 PublicationsCorresponds to variant dbSNP:rs773442562Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 219 | P → A: Loss of interaction with FKBP4 and FKBP1A. 1 Publication | 1 | |
Mutagenesisi | 425 | K → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication | 1 | |
Mutagenesisi | 476 | N → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication | 1 | |
Mutagenesisi | 567 | L → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication | 1 | |
Mutagenesisi | 574 | R → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 11146 |
MalaCardsi | GLMN |
MIMi | 138000, phenotype |
OpenTargetsi | ENSG00000174842 |
Orphaneti | 83454, Glomuvenous malformation |
PharmGKBi | PA134870088 |
Miscellaneous databases
Pharosi | Q92990, Tbio |
Genetic variation databases
BioMutai | GLMN |
DMDMi | 38372884 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000087513 | 2 – 594 | GlomulinAdd BLAST | 593 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q92990 |
jPOSTi | Q92990 |
MassIVEi | Q92990 |
MaxQBi | Q92990 |
PaxDbi | Q92990 |
PeptideAtlasi | Q92990 |
PRIDEi | Q92990 |
ProteomicsDBi | 75652 [Q92990-1] 75653 [Q92990-2] |
TopDownProteomicsi | Q92990-1 [Q92990-1] |
PTM databases
GlyGeni | Q92990, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92990 |
PhosphoSitePlusi | Q92990 |
SwissPalmi | Q92990 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000174842, Expressed in caudate nucleus and 214 other tissues |
ExpressionAtlasi | Q92990, baseline and differential |
Genevisiblei | Q92990, HS |
Organism-specific databases
HPAi | ENSG00000174842, Tissue enriched (retina) |
Interactioni
Subunit structurei
Interacts with FKBP4 and FKBP1A (PubMed:8955134, PubMed:12604780, PubMed:11164950). Isoform 1:
Interacts with RBX1 (via RING domain) (PubMed:22405651, PubMed:22748924). Identified in complexes that contain RBX1 plus one of the cullins CUL1, CUL2, CUL3, and CUL4A (PubMed:22405651, PubMed:22748924).
Identified in a SCF complex composed of CUL1, RBX1, SKP1, FBXW7 and GLMN (PubMed:22405651).
Component of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN (PubMed:12904573).
Interacts with unphosphorylated MET and is released upon MET phosphorylation (PubMed:11571281).
7 PublicationsBinary interactionsi
Q92990
GO - Molecular functioni
- hepatocyte growth factor receptor binding Source: MGI
- signaling receptor binding Source: MGI
- ubiquitin protein ligase binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 116318, 136 interactors |
CORUMi | Q92990 |
IntActi | Q92990, 72 interactors |
STRINGi | 9606.ENSP00000359385 |
Miscellaneous databases
RNActi | Q92990, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q92990 |
SMRi | Q92990 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2 – 553 | Alpha-helical region with structural similarity to HEAT repeats1 PublicationAdd BLAST | 552 | |
Regioni | 300 – 594 | Important for interaction with RBX11 PublicationAdd BLAST | 295 |
Domaini
Phylogenomic databases
eggNOGi | ENOG502QQAV, Eukaryota |
GeneTreei | ENSGT00390000018446 |
HOGENOMi | CLU_029654_3_0_1 |
InParanoidi | Q92990 |
OMAi | CIFMYKQ |
OrthoDBi | 1088011at2759 |
PhylomeDBi | Q92990 |
TreeFami | TF105319 |
Family and domain databases
IDEALi | IID00518 |
InterProi | View protein in InterPro IPR019516, Glomulin/ALF4 IPR013877, YAP-bd/ALF4/Glomulin |
PANTHERi | PTHR15430, PTHR15430, 1 hit |
Pfami | View protein in Pfam PF08568, Kinetochor_Ybp2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVEELQSII KRCQILEEQD FKEEDFGLFQ LAGQRCIEEG HTDQLLEIIQ
60 70 80 90 100
NEKNKVIIKN MGWNLVGPVV RCLLCKDKED SKRKVYFLIF DLLVKLCNPK
110 120 130 140 150
ELLLGLLELI EEPSGKQISQ SILLLLQPLQ TVIQKLHNKA YSIGLALSTL
160 170 180 190 200
WNQLSLLPVP YSKEQIQMDD YGLCQCCKAL IEFTKPFVEE VIDNKENSLE
210 220 230 240 250
NEKLKDELLK FCFKSLKCPL LTAQFFEQSE EGGNDPFRYF ASEIIGFLSA
260 270 280 290 300
IGHPFPKMIF NHGRKKRTWN YLEFEEEENK QLADSMASLA YLVFVQGIHI
310 320 330 340 350
DQLPMVLSPL YLLQFNMGHI EVFLQRTEES VISKGLELLE NSLLRIEDNS
360 370 380 390 400
LLYQYLEIKS FLTVPQGLVK VMTLCPIETL RKKSLAMLQL YINKLDSQGK
410 420 430 440 450
YTLFRCLLNT SNHSGVEAFI IQNIKNQIDM SLKRTRNNKW FTGPQLISLL
460 470 480 490 500
DLVLFLPEGA ETDLLQNSDR IMASLNLLRY LVIKDNENDN QTGLWTELGN
510 520 530 540 550
IENNFLKPLH IGLNMSKAHY EAEIKNSQEA QKSKDLCSIT VSGEEIPNMP
560 570 580 590
PEMQLKVLHS ALFTFDLIES VLARVEELIE IKTKSTSEEN IGIK
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0QXG8 | M0QXG8_HUMAN | Glomulin | GLMN | 297 | Annotation score: | ||
M0QX84 | M0QX84_HUMAN | Glomulin | GLMN | 245 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061653 | 336 | L → S. Corresponds to variant dbSNP:rs35258161EnsemblClinVar. | 1 | |
Natural variantiVAR_017241 | 393 | Missing in GVMs; loss of interaction with CUL1 and RBX1. 2 PublicationsCorresponds to variant dbSNP:rs773442562Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008882 | 406 – 417 | CLLNT…HSGVE → EHVTTNGLQDHS in isoform 2. 1 PublicationAdd BLAST | 12 | |
Alternative sequenceiVSP_008883 | 418 – 594 | Missing in isoform 2. 1 PublicationAdd BLAST | 177 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U73704 mRNA Translation: AAC50908.1 AJ347709 mRNA Translation: CAC69882.1 AJ302735 mRNA Translation: CAC82938.1 AJ302727 , AJ302728, AJ302729, AJ302730, AJ302731, AJ302732, AJ302733, AJ302734 Genomic DNA Translation: CAC88124.1 AL451010 Genomic DNA No translation available. CH471097 Genomic DNA Translation: EAW73098.1 BC001257 mRNA Translation: AAH01257.1 |
CCDSi | CCDS738.1 [Q92990-1] |
RefSeqi | NP_001306612.1, NM_001319683.1 NP_444504.1, NM_053274.2 [Q92990-1] XP_011538848.1, XM_011540546.2 [Q92990-1] |
Genome annotation databases
Ensembli | ENST00000370360.8; ENSP00000359385.3; ENSG00000174842.17 ENST00000495106.5; ENSP00000436829.1; ENSG00000174842.17 [Q92990-2] |
GeneIDi | 11146 |
KEGGi | hsa:11146 |
MANE-Selecti | ENST00000370360.8; ENSP00000359385.3; NM_053274.3; NP_444504.1 |
UCSCi | uc001dor.4, human [Q92990-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U73704 mRNA Translation: AAC50908.1 AJ347709 mRNA Translation: CAC69882.1 AJ302735 mRNA Translation: CAC82938.1 AJ302727 , AJ302728, AJ302729, AJ302730, AJ302731, AJ302732, AJ302733, AJ302734 Genomic DNA Translation: CAC88124.1 AL451010 Genomic DNA No translation available. CH471097 Genomic DNA Translation: EAW73098.1 BC001257 mRNA Translation: AAH01257.1 |
CCDSi | CCDS738.1 [Q92990-1] |
RefSeqi | NP_001306612.1, NM_001319683.1 NP_444504.1, NM_053274.2 [Q92990-1] XP_011538848.1, XM_011540546.2 [Q92990-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4F52 | X-ray | 3.00 | E/F | 1-594 | [»] | |
AlphaFoldDBi | Q92990 | |||||
SMRi | Q92990 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116318, 136 interactors |
CORUMi | Q92990 |
IntActi | Q92990, 72 interactors |
STRINGi | 9606.ENSP00000359385 |
PTM databases
GlyGeni | Q92990, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92990 |
PhosphoSitePlusi | Q92990 |
SwissPalmi | Q92990 |
Genetic variation databases
BioMutai | GLMN |
DMDMi | 38372884 |
Proteomic databases
EPDi | Q92990 |
jPOSTi | Q92990 |
MassIVEi | Q92990 |
MaxQBi | Q92990 |
PaxDbi | Q92990 |
PeptideAtlasi | Q92990 |
PRIDEi | Q92990 |
ProteomicsDBi | 75652 [Q92990-1] 75653 [Q92990-2] |
TopDownProteomicsi | Q92990-1 [Q92990-1] |
Protocols and materials databases
Antibodypediai | 33642, 249 antibodies from 27 providers |
DNASUi | 11146 |
Genome annotation databases
Ensembli | ENST00000370360.8; ENSP00000359385.3; ENSG00000174842.17 ENST00000495106.5; ENSP00000436829.1; ENSG00000174842.17 [Q92990-2] |
GeneIDi | 11146 |
KEGGi | hsa:11146 |
MANE-Selecti | ENST00000370360.8; ENSP00000359385.3; NM_053274.3; NP_444504.1 |
UCSCi | uc001dor.4, human [Q92990-1] |
Organism-specific databases
CTDi | 11146 |
DisGeNETi | 11146 |
GeneCardsi | GLMN |
HGNCi | HGNC:14373, GLMN |
HPAi | ENSG00000174842, Tissue enriched (retina) |
MalaCardsi | GLMN |
MIMi | 138000, phenotype 601749, gene |
neXtProti | NX_Q92990 |
OpenTargetsi | ENSG00000174842 |
Orphaneti | 83454, Glomuvenous malformation |
PharmGKBi | PA134870088 |
VEuPathDBi | HostDB:ENSG00000174842 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQAV, Eukaryota |
GeneTreei | ENSGT00390000018446 |
HOGENOMi | CLU_029654_3_0_1 |
InParanoidi | Q92990 |
OMAi | CIFMYKQ |
OrthoDBi | 1088011at2759 |
PhylomeDBi | Q92990 |
TreeFami | TF105319 |
Enzyme and pathway databases
PathwayCommonsi | Q92990 |
Reactomei | R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
SignaLinki | Q92990 |
SIGNORi | Q92990 |
Miscellaneous databases
BioGRID-ORCSi | 11146, 242 hits in 1078 CRISPR screens |
ChiTaRSi | GLMN, human |
GeneWikii | GLMN |
GenomeRNAii | 11146 |
Pharosi | Q92990, Tbio |
PROi | PR:Q92990 |
RNActi | Q92990, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174842, Expressed in caudate nucleus and 214 other tissues |
ExpressionAtlasi | Q92990, baseline and differential |
Genevisiblei | Q92990, HS |
Family and domain databases
IDEALi | IID00518 |
InterProi | View protein in InterPro IPR019516, Glomulin/ALF4 IPR013877, YAP-bd/ALF4/Glomulin |
PANTHERi | PTHR15430, PTHR15430, 1 hit |
Pfami | View protein in Pfam PF08568, Kinetochor_Ybp2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GLMN_HUMAN | |
Accessioni | Q92990Primary (citable) accession number: Q92990 Secondary accession number(s): Q5VVC3, Q9BVE8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | November 14, 2003 | |
Last modified: | May 25, 2022 | |
This is version 175 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references