Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Glomulin

Gene

GLMN

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

Functioni

Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production.2 Publications

Miscellaneous

Rapamycin and FK506 abolish the interaction in a dose dependent manner.

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

  • muscle cell differentiation Source: UniProtKB
  • negative regulation of T cell proliferation Source: UniProtKB
  • neural tube closure Source: Ensembl
  • positive regulation of cytokine secretion Source: UniProtKB
  • positive regulation of interleukin-2 biosynthetic process Source: UniProtKB
  • 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

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:FAP48, FAP68, 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)1 Publication
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. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi219P → A: Loss of interaction with FKBP12 and FKBP59. 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.

Gene expression databases

BgeeiENSG00000174842
CleanExiHS_GLMN
ExpressionAtlasiQ92990 baseline and differential
GenevisibleiQ92990 HS

Organism-specific databases

HPAiHPA031446
HPA031448

Interactioni

Subunit structurei

Monomer. Isoform 1 interacts with notphosphorylated MET and is released upon receptor phosphorylation. Isoform 2 interacts with FKBP59 and FKBP12. Isoform 1 is part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1.2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • hepatocyte growth factor receptor binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: MGI

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi2 – 13Combined sources12
Helixi28 – 37Combined sources10
Beta strandi38 – 40Combined sources3
Helixi43 – 49Combined sources7
Helixi55 – 60Combined sources6
Helixi62 – 65Combined sources4
Helixi66 – 74Combined sources9
Beta strandi80 – 82Combined sources3
Helixi84 – 96Combined sources13
Helixi99 – 101Combined sources3
Helixi102 – 106Combined sources5
Helixi107 – 110Combined sources4
Helixi115 – 117Combined sources3
Helixi118 – 135Combined sources18
Helixi140 – 156Combined sources17
Helixi173 – 192Combined sources20
Helixi199 – 222Combined sources24
Helixi236 – 250Combined sources15
Beta strandi251 – 253Combined sources3
Helixi255 – 257Combined sources3
Helixi283 – 294Combined sources12
Turni298 – 302Combined sources5
Helixi309 – 324Combined sources16
Helixi329 – 344Combined sources16
Helixi353 – 357Combined sources5
Helixi359 – 374Combined sources16
Helixi378 – 394Combined sources17
Helixi397 – 411Combined sources15
Helixi414 – 430Combined sources17
Turni440 – 442Combined sources3
Helixi444 – 453Combined sources10
Turni457 – 461Combined sources5
Turni464 – 466Combined sources3
Helixi468 – 484Combined sources17
Turni487 – 489Combined sources3
Helixi494 – 496Combined sources3
Helixi498 – 504Combined sources7
Helixi506 – 533Combined sources28
Helixi553 – 555Combined sources3
Helixi556 – 581Combined sources26

3D structure databases

ProteinModelPortaliQ92990
SMRiQ92990
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili188 – 208Sequence analysisAdd BLAST21
Coiled coili272 – 289Sequence analysisAdd BLAST18

Compositional bias

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG4H Eukaryota
ENOG410YJ4Z LUCA
GeneTreeiENSGT00390000018446
HOGENOMiHOG000043079
HOVERGENiHBG044811
InParanoidiQ92990
OMAiKNQIDMS
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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061653336L → S. Corresponds to variant dbSNP:rs35258161EnsemblClinVar.1
Natural variantiVAR_017241393Missing in GVMs. 1 Publication1

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

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: July 18, 2018
This is version 150 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health