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Entry version 124 (16 Oct 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Gliomedin

Gene

GLDN

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

Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with NRCAM, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.By similarity

<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

GO - Biological processi

<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>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

<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_and_taxonomy_section">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:
Gliomedin
Cleaved into the following chain:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GLDN
Synonyms:COLM
ORF Names:UNQ9339/PRO34011
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29514 GLDN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608603 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZMI3

<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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 17CytoplasmicSequence analysisAdd BLAST17
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei18 – 39Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST22
Topological domaini40 – 551ExtracellularSequence analysisAdd BLAST512

Keywords - Cellular componenti

Cell membrane, Cell projection, Extracellular matrix, Membrane, Secreted

<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

Lethal congenital contracture syndrome 11 (LCCS11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
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_07854532A → E in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs779432560EnsemblClinVar.1
Natural variantiVAR_078546475A → P in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs764239923EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
342035

MalaCards human disease database

More...
MalaCardsi
GLDN
MIMi617194 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000186417

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134882405

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZMI3

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GLDN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749534

<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 ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002463211 – 551GliomedinAdd BLAST551
ChainiPRO_000043426595 – 454Gliomedin shedded ectodomainBy similarityAdd BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi329N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi357N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi378N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi464N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

N-glycosylated.By similarity
Proteolytic proccessing by a furin-like protease causes shedding of the ectodomain. Further cleavage by BMP1 releases the olfactomedin-like domain.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei94 – 95Cleavage; by furin-like proteaseBy similarity2
Sitei280 – 281Cleavage; by BMP1By similarity2

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6ZMI3

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

More...
PaxDbi
Q6ZMI3

PeptideAtlas

More...
PeptideAtlasi
Q6ZMI3

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZMI3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67876 [Q6ZMI3-1]
67877 [Q6ZMI3-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1939

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZMI3

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

More...
PhosphoSitePlusi
Q6ZMI3

<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

Specifically expressed in spinal cord, brain, placenta and sciatic nerve. More abundant in peripheral than central nervous system.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000186417 Expressed in 172 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZMI3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZMI3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA059441

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer (via collagen-like domains).

Interacts with NRCAM and NFASC/neurofascin (PubMed:27616481). Interaction with glial NRCAM enhances interaction with axonal NFASC.

Interacts with MYOC.

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q6ZMI3, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000335196

<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

1551
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
Q6ZMI3

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini137 – 195Collagen-like 1Add BLAST59
Domaini196 – 222Collagen-like 2Add BLAST27
Domaini299 – 546Olfactomedin-likePROSITE-ProRule annotationAdd BLAST248

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi237 – 264Pro-richAdd BLAST28

<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 olfactomedin-like domain mediates NFASC/neurofascin and NRCAM binding.By similarity

Keywords - Domaini

Collagen, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410INP7 Eukaryota
ENOG4110Z7Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158020

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112733

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZMI3

KEGG Orthology (KO)

More...
KOi
K16364

Identification of Orthologs from Complete Genome Data

More...
OMAi
HYFHGCG

Database of Orthologous Groups

More...
OrthoDBi
421994at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZMI3

TreeFam database of animal gene trees

More...
TreeFami
TF315964

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008160 Collagen
IPR031224 Gliomedin
IPR003112 Olfac-like_dom

The PANTHER Classification System

More...
PANTHERi
PTHR23192:SF5 PTHR23192:SF5, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 2 hits
PF02191 OLF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00284 OLF, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51132 OLF, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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: Q6ZMI3-1) [UniParc]FASTAAdd to basket

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
MARGAEGGRG DAGWGLRGAL AAVALLSALN AAGTVFALCQ WRGLSSALRA
60 70 80 90 100
LEAQRGREQR EDSALRSFLA ELSRAPRGAS APPQDPASSA RNKRSHSGEP
110 120 130 140 150
APHIRAESHD MLMMMTYSMV PIRVMVDLCN STKGICLTGP SGPPGPPGAG
160 170 180 190 200
GLPGHNGLDG QPGPQGPKGE KGANGKRGKM GIPGAAGNPG ERGEKGDHGE
210 220 230 240 250
LGLQGNEGPP GQKGEKGDKG DVSNDVLLAG AKGDQGPPGP PGPPGPPGPP
260 270 280 290 300
GPPGSRRAKG PRQPSMFNGQ CPGETCAIPN DDTLVGKADE KASEHHSPQA
310 320 330 340 350
ESMITSIGNP VQVLKVTETF GTWIRESANK SDDRIWVTEH FSGIMVKEFK
360 370 380 390 400
DQPSLLNGSY TFIHLPYYFH GCGHVVYNNS LYYHKGGSNT LVRFEFGQET
410 420 430 440 450
SQTLKLENAL YFDRKYLFAN SKTYFNLAVD EKGLWIIYAS SVDGSSILVA
460 470 480 490 500
QLDERTFSVV QHVNTTYPKS KAGNAFIARG ILYVTDTKDM RVTFAFDLLG
510 520 530 540 550
GKQINANFDL RTSQSVLAML AYNMRDQHLY SWEDGHLMLY PVQFLSTTLN

Q
Length:551
Mass (Da):58,957
Last modified:July 5, 2004 - v1
<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:iCE14A36120DECE18
GO
Isoform 2 (identifier: Q6ZMI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-124: Missing.

Show »
Length:427
Mass (Da):45,822
Checksum:i18C4902C914EDBC5
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
H0YM22H0YM22_HUMAN
Gliomedin
GLDN
165Annotation 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>
A0A087X220A0A087X220_HUMAN
Gliomedin
GLDN
151Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti376V → A in CAD98018 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07854532A → E in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs779432560EnsemblClinVar.1
Natural variantiVAR_027039141S → N. Corresponds to variant dbSNP:rs17648128Ensembl.1
Natural variantiVAR_050424265S → N1 PublicationCorresponds to variant dbSNP:rs17648128Ensembl.1
Natural variantiVAR_061484351D → N. Corresponds to variant dbSNP:rs35223886Ensembl.1
Natural variantiVAR_078546475A → P in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs764239923EnsemblClinVar.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_0198451 – 124Missing in isoform 2. 1 PublicationAdd BLAST124

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK172756 mRNA Translation: BAD18742.1
BX538105 mRNA Translation: CAD98018.1
AY358144 mRNA Translation: AAQ88511.1
BK001262 mRNA Translation: DAA01143.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10140.2 [Q6ZMI3-1]
CCDS81882.1 [Q6ZMI3-2]

NCBI Reference Sequences

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RefSeqi
NP_001317226.1, NM_001330297.1 [Q6ZMI3-2]
NP_861454.2, NM_181789.2 [Q6ZMI3-1]
XP_016877611.1, XM_017022122.1 [Q6ZMI3-2]
XP_016877613.1, XM_017022124.1 [Q6ZMI3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000335449; ENSP00000335196; ENSG00000186417 [Q6ZMI3-1]
ENST00000396399; ENSP00000379681; ENSG00000186417 [Q6ZMI3-2]
ENST00000612989; ENSP00000479249; ENSG00000186417 [Q6ZMI3-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
342035

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:342035

UCSC genome browser

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UCSCi
uc002aba.4 human [Q6ZMI3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK172756 mRNA Translation: BAD18742.1
BX538105 mRNA Translation: CAD98018.1
AY358144 mRNA Translation: AAQ88511.1
BK001262 mRNA Translation: DAA01143.1
CCDSiCCDS10140.2 [Q6ZMI3-1]
CCDS81882.1 [Q6ZMI3-2]
RefSeqiNP_001317226.1, NM_001330297.1 [Q6ZMI3-2]
NP_861454.2, NM_181789.2 [Q6ZMI3-1]
XP_016877611.1, XM_017022122.1 [Q6ZMI3-2]
XP_016877613.1, XM_017022124.1 [Q6ZMI3-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5YBYX-ray1.43A301-551[»]
SMRiQ6ZMI3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

IntActiQ6ZMI3, 1 interactor
STRINGi9606.ENSP00000335196

PTM databases

GlyConnecti1939
iPTMnetiQ6ZMI3
PhosphoSitePlusiQ6ZMI3

Polymorphism and mutation databases

BioMutaiGLDN
DMDMi74749534

Proteomic databases

MassIVEiQ6ZMI3
PaxDbiQ6ZMI3
PeptideAtlasiQ6ZMI3
PRIDEiQ6ZMI3
ProteomicsDBi67876 [Q6ZMI3-1]
67877 [Q6ZMI3-2]

Genome annotation databases

EnsembliENST00000335449; ENSP00000335196; ENSG00000186417 [Q6ZMI3-1]
ENST00000396399; ENSP00000379681; ENSG00000186417 [Q6ZMI3-2]
ENST00000612989; ENSP00000479249; ENSG00000186417 [Q6ZMI3-2]
GeneIDi342035
KEGGihsa:342035
UCSCiuc002aba.4 human [Q6ZMI3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
342035
DisGeNETi342035

GeneCards: human genes, protein and diseases

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GeneCardsi
GLDN
HGNCiHGNC:29514 GLDN
HPAiHPA059441
MalaCardsiGLDN
MIMi608603 gene
617194 phenotype
neXtProtiNX_Q6ZMI3
OpenTargetsiENSG00000186417
PharmGKBiPA134882405

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410INP7 Eukaryota
ENOG4110Z7Z LUCA
GeneTreeiENSGT00940000158020
HOGENOMiHOG000112733
InParanoidiQ6ZMI3
KOiK16364
OMAiHYFHGCG
OrthoDBi421994at2759
PhylomeDBiQ6ZMI3
TreeFamiTF315964

Miscellaneous databases

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

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ChiTaRSi
GLDN human

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

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GenomeRNAii
342035
PharosiQ6ZMI3

Protein Ontology

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PROi
PR:Q6ZMI3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000186417 Expressed in 172 organ(s), highest expression level in placenta
ExpressionAtlasiQ6ZMI3 baseline and differential
GenevisibleiQ6ZMI3 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR031224 Gliomedin
IPR003112 Olfac-like_dom
PANTHERiPTHR23192:SF5 PTHR23192:SF5, 1 hit
PfamiView protein in Pfam
PF01391 Collagen, 2 hits
PF02191 OLF, 1 hit
SMARTiView protein in SMART
SM00284 OLF, 1 hit
PROSITEiView protein in PROSITE
PS51132 OLF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiGLDN_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: Q6ZMI3
Secondary accession number(s): Q6UXZ7, Q7Z359
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 5, 2004
Last modified: October 16, 2019
This is version 124 of the entry and version 1 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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