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Protein

Gliomedin

Gene

GLDN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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 - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

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

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

Keywords - Cellular componenti

Cell membrane, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

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.
See also OMIM:617194
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07854532A → E in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs779432560Ensembl.1
Natural variantiVAR_078546475A → P in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs764239923Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi342035.
MIMi617194. phenotype.
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...) asparagineSequence analysis1
Glycosylationi329N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi357N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi378N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi464N-linked (GlcNAc...) asparagineSequence 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 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

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

Keywords - Domaini

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

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR008160. Collagen.
IPR031224. Gliomedin.
IPR003112. Olfac-like_dom.
PANTHERiPTHR23192:SF59. PTHR23192:SF59. 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.

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_07854532A → E in LCCS11; abolishes cell surface localization; abolishes interaction with NFASC. 1 PublicationCorresponds to variant dbSNP:rs779432560Ensembl.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:rs764239923Ensembl.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. [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]
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

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.

Entry informationi

Entry nameiGLDN_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMI3
Secondary accession number(s): Q6UXZ7, Q7Z359
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 5, 2004
Last modified: June 7, 2017
This is version 109 of the entry and version 1 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

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