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Protein

Glomulin

Gene

GLMN

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

Functioni

Isoform 1: 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 Publications

GO - Molecular functioni

  • hepatocyte growth factor receptor binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: MGI
  • ubiquitin-protein transferase inhibitor activity Source: MGI

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ92990
SIGNORiQ92990

Names & Taxonomyi

Protein namesi
Recommended name:
Glomulin
Alternative name(s):
FK506-binding protein-associated protein
Short name:
FAP
FKBP-associated protein
Gene namesi
Name:GLMN
Synonyms:FAP481 Publication, FAP681 Publication, VMGLOM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000174842.16
HGNCiHGNC:14373 GLMN
MIMi601749 gene
neXtProtiNX_Q92990

Subcellular locationi

Pathology & Biotechi

Involvement in diseasei

Glomuvenous malformations (GVMs)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens.
See also OMIM:138000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017241393Missing in GVMs; loss of interaction with CUL1 and RBX1. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi219P → A: Loss of interaction with FKBP4 and FKBP1A. 1 Publication1
Mutagenesisi425K → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication1
Mutagenesisi476N → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication1
Mutagenesisi567L → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication1
Mutagenesisi574R → A: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi11146
MalaCardsiGLMN
MIMi138000 phenotype
OpenTargetsiENSG00000174842
Orphaneti83454 Glomuvenous malformation
PharmGKBiPA134870088

Polymorphism and mutation databases

BioMutaiGLMN
DMDMi38372884

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000875132 – 594GlomulinAdd BLAST593

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ92990
MaxQBiQ92990
PaxDbiQ92990
PeptideAtlasiQ92990
PRIDEiQ92990
ProteomicsDBi75652
75653 [Q92990-2]
TopDownProteomicsiQ92990-1 [Q92990-1]

PTM databases

iPTMnetiQ92990
PhosphoSitePlusiQ92990
SwissPalmiQ92990

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000174842 Expressed in 202 organ(s), highest expression level in caudate nucleus
CleanExiHS_GLMN
ExpressionAtlasiQ92990 baseline and differential
GenevisibleiQ92990 HS

Organism-specific databases

HPAiHPA031446
HPA031448

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 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116318, 85 interactors
CORUMiQ92990
IntActiQ92990, 14 interactors
STRINGi9606.ENSP00000359385

Structurei

Secondary structure

1594
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ92990
SMRiQ92990
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 553Alpha-helical region with structural similarity to HEAT repeats1 PublicationAdd BLAST552
Regioni300 – 594Important for interaction with RBX11 PublicationAdd BLAST295

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi123 – 126Poly-Leu4
Compositional biasi273 – 278Poly-Glu6

Domaini

The C-terminal half of the protein is important for interaction with RBX1.1 Publication

Phylogenomic databases

eggNOGiENOG410IG4H Eukaryota
ENOG410YJ4Z LUCA
GeneTreeiENSGT00390000018446
HOGENOMiHOG000043079
HOVERGENiHBG044811
InParanoidiQ92990
OMAiYFLMLDL
OrthoDBiEOG091G054M
PhylomeDBiQ92990
TreeFamiTF105319

Family and domain databases

InterProiView protein in InterPro
IPR019516 Glomulin/ALF4
IPR013877 YAP-bd/ALF4/Glomulin
PANTHERiPTHR15430 PTHR15430, 1 hit
PfamiView protein in Pfam
PF08568 Kinetochor_Ybp2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92990-1) [UniParc]FASTAAdd to basket
Also known as: FAP68, FKBP-associated protein 68 kDa

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
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
Length:594
Mass (Da):68,208
Last modified:November 14, 2003 - v2
Checksum:iCE19050F1F692378
GO
Isoform 2 (identifier: Q92990-2) [UniParc]FASTAAdd to basket
Also known as: FAP48, FKBP-associated protein 48 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     406-417: CLLNTSNHSGVE → EHVTTNGLQDHS
     418-594: Missing.

Show »
Length:417
Mass (Da):48,166
Checksum:iEFA18B54B381E2AD
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QXG8M0QXG8_HUMAN
Glomulin
GLMN
297Annotation score:
M0QX84M0QX84_HUMAN
Glomulin
GLMN
245Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061653336L → S. Corresponds to variant dbSNP:rs35258161EnsemblClinVar.1
Natural variantiVAR_017241393Missing in GVMs; loss of interaction with CUL1 and RBX1. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008882406 – 417CLLNT…HSGVE → EHVTTNGLQDHS in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_008883418 – 594Missing in isoform 2. 1 PublicationAdd BLAST177

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
CCDSiCCDS738.1 [Q92990-1]
RefSeqiNP_001306612.1, NM_001319683.1
NP_444504.1, NM_053274.2 [Q92990-1]
XP_011538848.1, XM_011540546.2 [Q92990-1]
UniGeneiHs.49105

Genome annotation databases

EnsembliENST00000370360; ENSP00000359385; ENSG00000174842 [Q92990-1]
ENST00000495106; ENSP00000436829; ENSG00000174842 [Q92990-2]
GeneIDi11146
KEGGihsa:11146
UCSCiuc001dor.4 human [Q92990-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS738.1 [Q92990-1]
RefSeqiNP_001306612.1, NM_001319683.1
NP_444504.1, NM_053274.2 [Q92990-1]
XP_011538848.1, XM_011540546.2 [Q92990-1]
UniGeneiHs.49105

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4F52X-ray3.00E/F1-594[»]
ProteinModelPortaliQ92990
SMRiQ92990
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116318, 85 interactors
CORUMiQ92990
IntActiQ92990, 14 interactors
STRINGi9606.ENSP00000359385

PTM databases

iPTMnetiQ92990
PhosphoSitePlusiQ92990
SwissPalmiQ92990

Polymorphism and mutation databases

BioMutaiGLMN
DMDMi38372884

Proteomic databases

EPDiQ92990
MaxQBiQ92990
PaxDbiQ92990
PeptideAtlasiQ92990
PRIDEiQ92990
ProteomicsDBi75652
75653 [Q92990-2]
TopDownProteomicsiQ92990-1 [Q92990-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370360; ENSP00000359385; ENSG00000174842 [Q92990-1]
ENST00000495106; ENSP00000436829; ENSG00000174842 [Q92990-2]
GeneIDi11146
KEGGihsa:11146
UCSCiuc001dor.4 human [Q92990-1]

Organism-specific databases

CTDi11146
DisGeNETi11146
EuPathDBiHostDB:ENSG00000174842.16
GeneCardsiGLMN
HGNCiHGNC:14373 GLMN
HPAiHPA031446
HPA031448
MalaCardsiGLMN
MIMi138000 phenotype
601749 gene
neXtProtiNX_Q92990
OpenTargetsiENSG00000174842
Orphaneti83454 Glomuvenous malformation
PharmGKBiPA134870088
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG4H Eukaryota
ENOG410YJ4Z LUCA
GeneTreeiENSGT00390000018446
HOGENOMiHOG000043079
HOVERGENiHBG044811
InParanoidiQ92990
OMAiYFLMLDL
OrthoDBiEOG091G054M
PhylomeDBiQ92990
TreeFamiTF105319

Enzyme and pathway databases

ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ92990
SIGNORiQ92990

Miscellaneous databases

ChiTaRSiGLMN human
GeneWikiiGLMN
GenomeRNAii11146
PROiPR:Q92990
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174842 Expressed in 202 organ(s), highest expression level in caudate nucleus
CleanExiHS_GLMN
ExpressionAtlasiQ92990 baseline and differential
GenevisibleiQ92990 HS

Family and domain databases

InterProiView protein in InterPro
IPR019516 Glomulin/ALF4
IPR013877 YAP-bd/ALF4/Glomulin
PANTHERiPTHR15430 PTHR15430, 1 hit
PfamiView protein in Pfam
PF08568 Kinetochor_Ybp2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGLMN_HUMAN
AccessioniPrimary (citable) accession number: Q92990
Secondary accession number(s): Q5VVC3, Q9BVE8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 14, 2003
Last modified: November 7, 2018
This is version 153 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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