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UniProtKB - Q92990 (GLMN_HUMAN)

Entry version 172 (02 Jun 2021)
Sequence version 2 (14 Nov 2003)
Previous versions | rss
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Protein

Glomulin

Gene

GLMN

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92990

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q92990

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92990

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glomulin
Alternative name(s):
FK506-binding protein-associated protein
Short name:
FAP
FKBP-associated protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GLMN
Synonyms:FAP481 Publication, FAP681 Publication, VMGLOM
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14373, GLMN

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601749, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92990

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000174842.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glomuvenous malformations (GVMs)2 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017241393Missing in GVMs; loss of interaction with CUL1 and RBX1. 2 PublicationsCorresponds to variant dbSNP:rs773442562Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		11146

MalaCards human disease database

More...MalaCardsi		GLMN
MIMi138000, phenotype

Open Targets

More...OpenTargetsi		ENSG00000174842

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		83454, Glomuvenous malformation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134870088

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92990, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GLMN

Domain mapping of disease mutations (DMDM)

More...DMDMi		38372884

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000875132 – 594GlomulinAdd BLAST593

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q92990

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92990

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92990

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92990

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q92990

PeptideAtlas

More...PeptideAtlasi		Q92990

PRoteomics IDEntifications database

More...PRIDEi		Q92990

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75652 [Q92990-1]
75653 [Q92990-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q92990-1 [Q92990-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92990

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q92990

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q92990

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000174842, Expressed in caudate nucleus and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92990, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92990, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000174842, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116318, 100 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92990

Protein interaction database and analysis system

More...IntActi		Q92990, 71 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359385

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92990, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q92990

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 553Alpha-helical region with structural similarity to HEAT repeats1 PublicationAdd BLAST552
Regioni300 – 594Important for interaction with RBX11 PublicationAdd BLAST295

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQAV, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018446

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_029654_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92990

Identification of Orthologs from Complete Genome Data

More...OMAi		FESCLLR

Database of Orthologous Groups

More...OrthoDBi		1088011at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92990

TreeFam database of animal gene trees

More...TreeFami		TF105319

Family and domain databases

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00518

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019516, Glomulin/ALF4
IPR013877, YAP-bd/ALF4/Glomulin

The PANTHER Classification System

More...PANTHERi		PTHR15430, PTHR15430, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08568, Kinetochor_Ybp2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QXG8M0QXG8_HUMAN
Glomulin
GLMN
297Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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 PublicationsCorresponds to variant dbSNP:rs773442562Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U73704 mRNA Translation: AAC50908.1
AJ347709 mRNA Translation: CAC69882.1
AJ302735 mRNA Translation: CAC82938.1
AJ302727 AJ302734 Genomic DNA Translation: CAC88124.1
AL451010 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW73098.1
BC001257 mRNA Translation: AAH01257.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS738.1 [Q92990-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000370360; ENSP00000359385; ENSG00000174842 [Q92990-1]
ENST00000495106; ENSP00000436829; ENSG00000174842 [Q92990-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11146

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11146

UCSC genome browser

More...UCSCi		uc001dor.4, human [Q92990-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4F52X-ray3.00E/F1-594[»]
SMRiQ92990
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116318, 100 interactors
CORUMiQ92990
IntActiQ92990, 71 interactors
STRINGi9606.ENSP00000359385

PTM databases

iPTMnetiQ92990
PhosphoSitePlusiQ92990
SwissPalmiQ92990

Genetic variation databases

BioMutaiGLMN
DMDMi38372884

Proteomic databases

EPDiQ92990
jPOSTiQ92990
MassIVEiQ92990
MaxQBiQ92990
PaxDbiQ92990
PeptideAtlasiQ92990
PRIDEiQ92990
ProteomicsDBi75652 [Q92990-1]
75653 [Q92990-2]
TopDownProteomicsiQ92990-1 [Q92990-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33642, 246 antibodies

The DNASU plasmid repository

More...DNASUi		11146

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11146
DisGeNETi11146

GeneCards: human genes, protein and diseases

More...GeneCardsi		GLMN
HGNCiHGNC:14373, GLMN
HPAiENSG00000174842, Low tissue specificity
MalaCardsiGLMN
MIMi138000, phenotype
601749, gene
neXtProtiNX_Q92990
OpenTargetsiENSG00000174842
Orphaneti83454, Glomuvenous malformation
PharmGKBiPA134870088
VEuPathDBiHostDB:ENSG00000174842.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QQAV, Eukaryota
GeneTreeiENSGT00390000018446
HOGENOMiCLU_029654_3_0_1
InParanoidiQ92990
OMAiFESCLLR
OrthoDBi1088011at2759
PhylomeDBiQ92990
TreeFamiTF105319

Enzyme and pathway databases

PathwayCommonsiQ92990
ReactomeiR-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ92990
SIGNORiQ92990

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11146, 237 hits in 995 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GLMN, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GLMN

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		11146
PharosiQ92990, Tbio

Protein Ontology

More...PROi		PR:Q92990
RNActiQ92990, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000174842, Expressed in caudate nucleus and 214 other tissues
ExpressionAtlasiQ92990, baseline and differential
GenevisibleiQ92990, HS

Family and domain databases

IDEALiIID00518
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGLMN_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92990
Secondary accession number(s): Q5VVC3, Q9BVE8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 14, 2003
Last modified: June 2, 2021
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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