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Protein

Gliomedin

Gene

GLDN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Enzyme and pathway databases

BioCyciZFISH:G66-31548-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Gliomedin
Cleaved into the following chain:
Gene namesi
Name:GLDN
Synonyms:COLM
ORF Names:UNQ9339/PRO34011
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:29514. GLDN.

Subcellular locationi

  • Cell membrane By similarity; Single-pass type II membrane protein By similarity

  • Note: Detected at the nodes of Ranvier. Detected at immature heminodes.By similarity
Gliomedin shedded ectodomain :
  • Secreted By similarity
  • Secretedextracellular spaceextracellular matrix By similarity

  • Note: Proteolytic processing gives rise to a soluble extracellular domain that is secreted. The gliomedin shedded ectodomain localizes to the nodes of Ranvier.By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 17CytoplasmicSequence analysisAdd BLAST17
Transmembranei18 – 39Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST22
Topological domaini40 – 551ExtracellularSequence analysisAdd BLAST512

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi342035.
OpenTargetsiENSG00000186417.
PharmGKBiPA134882405.

Polymorphism and mutation databases

BioMutaiGLDN.
DMDMi74749534.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002463211 – 551GliomedinAdd BLAST551
ChainiPRO_000043426595 – 454Gliomedin shedded ectodomainBy similarityAdd BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi130N-linked (GlcNAc...)Sequence analysis1
Glycosylationi329N-linked (GlcNAc...)Sequence analysis1
Glycosylationi357N-linked (GlcNAc...)Sequence analysis1
Glycosylationi378N-linked (GlcNAc...)Sequence analysis1
Glycosylationi464N-linked (GlcNAc...)Sequence analysis1

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
Sitei94 – 95Cleavage; by furin-like proteaseBy similarity2
Sitei280 – 281Cleavage; by BMP1By similarity2

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6ZMI3.
PeptideAtlasiQ6ZMI3.
PRIDEiQ6ZMI3.

PTM databases

iPTMnetiQ6ZMI3.
PhosphoSitePlusiQ6ZMI3.

Expressioni

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

BgeeiENSG00000186417.
CleanExiHS_GLDN.
ExpressionAtlasiQ6ZMI3. baseline and differential.
GenevisibleiQ6ZMI3. HS.

Organism-specific databases

HPAiHPA059441.

Interactioni

Subunit structurei

Homotrimer (via collagen-like domains). Interacts with NRCAM and NFACS/neurofascin. Interaction with glial NRCAM enhances interaction with axonal NFACS. Interacts with MYOC.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000335196.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMI3.
SMRiQ6ZMI3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini137 – 195Collagen-like 1Add BLAST59
Domaini196 – 222Collagen-like 2Add BLAST27
Domaini299 – 546Olfactomedin-likePROSITE-ProRule annotationAdd BLAST248

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi237 – 264Pro-richAdd BLAST28

Domaini

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

Sequence similaritiesi

Contains 2 collagen-like domains.Curated
Contains 1 olfactomedin-like domain.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiENOG410INP7. Eukaryota.
ENOG4110Z7Z. LUCA.
GeneTreeiENSGT00760000119005.
HOGENOMiHOG000112733.
HOVERGENiHBG081557.
InParanoidiQ6ZMI3.
KOiK16364.
OMAiERIWLTM.
OrthoDBiEOG091G0841.
PhylomeDBiQ6ZMI3.
TreeFamiTF315964.

Family and domain databases

InterProiIPR008160. Collagen.
IPR031224. Gliomedin.
IPR003112. Olfac-like_dom.
[Graphical view]
PANTHERiPTHR23192:SF5. PTHR23192:SF5. 1 hit.
PfamiPF01391. Collagen. 2 hits.
PF02191. OLF. 1 hit.
[Graphical view]
SMARTiSM00284. OLF. 1 hit.
[Graphical view]
PROSITEiPS51132. OLF. 1 hit.
[Graphical view]

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: Q6ZMI3-1) [UniParc]FASTAAdd to basket

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
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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti376V → A in CAD98018 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027039141S → N.Corresponds to variant rs17648128dbSNPEnsembl.1
Natural variantiVAR_050424265S → N.1 PublicationCorresponds to variant rs17648128dbSNPEnsembl.1
Natural variantiVAR_061484351D → N.Corresponds to variant rs35223886dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0198451 – 124Missing in isoform 2. 1 PublicationAdd BLAST124

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.
NP_861454.2. NM_181789.2. [Q6ZMI3-1]
XP_016877611.1. XM_017022122.1. [Q6ZMI3-2]
XP_016877613.1. XM_017022124.1. [Q6ZMI3-2]
UniGeneiHs.526441.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
NP_861454.2. NM_181789.2. [Q6ZMI3-1]
XP_016877611.1. XM_017022122.1. [Q6ZMI3-2]
XP_016877613.1. XM_017022124.1. [Q6ZMI3-2]
UniGeneiHs.526441.

3D structure databases

ProteinModelPortaliQ6ZMI3.
SMRiQ6ZMI3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000335196.

PTM databases

iPTMnetiQ6ZMI3.
PhosphoSitePlusiQ6ZMI3.

Polymorphism and mutation databases

BioMutaiGLDN.
DMDMi74749534.

Proteomic databases

PaxDbiQ6ZMI3.
PeptideAtlasiQ6ZMI3.
PRIDEiQ6ZMI3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi342035.
DisGeNETi342035.
GeneCardsiGLDN.
HGNCiHGNC:29514. GLDN.
HPAiHPA059441.
MIMi608603. gene.
neXtProtiNX_Q6ZMI3.
OpenTargetsiENSG00000186417.
PharmGKBiPA134882405.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INP7. Eukaryota.
ENOG4110Z7Z. LUCA.
GeneTreeiENSGT00760000119005.
HOGENOMiHOG000112733.
HOVERGENiHBG081557.
InParanoidiQ6ZMI3.
KOiK16364.
OMAiERIWLTM.
OrthoDBiEOG091G0841.
PhylomeDBiQ6ZMI3.
TreeFamiTF315964.

Enzyme and pathway databases

BioCyciZFISH:G66-31548-MONOMER.

Miscellaneous databases

GenomeRNAii342035.
PROiQ6ZMI3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186417.
CleanExiHS_GLDN.
ExpressionAtlasiQ6ZMI3. baseline and differential.
GenevisibleiQ6ZMI3. HS.

Family and domain databases

InterProiIPR008160. Collagen.
IPR031224. Gliomedin.
IPR003112. Olfac-like_dom.
[Graphical view]
PANTHERiPTHR23192:SF5. PTHR23192:SF5. 1 hit.
PfamiPF01391. Collagen. 2 hits.
PF02191. OLF. 1 hit.
[Graphical view]
SMARTiSM00284. OLF. 1 hit.
[Graphical view]
PROSITEiPS51132. OLF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGLDN_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMI3
Secondary accession number(s): Q6UXZ7, Q7Z359
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 103 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.