GlyCosmos Portal

Annotation

Keyword

3D-structure
Alternative splicing
Cell membrane
Disease variant
Glycoprotein
Glycosidase
Hormone
Reference proteome
Repeat
Secreted
Signal
Transmembrane helix
Vitamin D

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9UEF7

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
positive regulation of bone mineralization	IMP	12110410
fibroblast growth factor receptor signaling pathway	IBA
carbohydrate metabolic process	IEA
response to activity	IEA
energy reserve metabolic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organonitrogen compound metabolic process [inference]

amine metabolic process [inference]

biogenic amine metabolic process [inference]

catecholamine metabolic process [inference]

norepinephrine metabolic process [inference]

norepinephrine biosynthetic process

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organonitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic substance biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organonitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process

cellular aromatic compound metabolic process [inference]

phenol-containing compound metabolic process [inference]

catechol-containing compound metabolic process [inference]

catecholamine metabolic process [inference]

norepinephrine metabolic process [inference]

norepinephrine biosynthetic process

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process

organic cyclic compound metabolic process [inference]

phenol-containing compound metabolic process [inference]

catechol-containing compound metabolic process [inference]

catecholamine metabolic process [inference]

norepinephrine metabolic process [inference]

norepinephrine biosynthetic process

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organonitrogen compound metabolic process [inference]

amine metabolic process [inference]

biogenic amine metabolic process [inference]

catecholamine metabolic process [inference]

norepinephrine metabolic process [inference]

norepinephrine biosynthetic process

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organonitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic substance biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organonitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic hydroxy compound metabolic process [inference]

phenol-containing compound metabolic process [inference]

catechol-containing compound metabolic process [inference]

catecholamine metabolic process [inference]

norepinephrine metabolic process [inference]

norepinephrine biosynthetic process

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process

cellular aromatic compound metabolic process [inference]

phenol-containing compound metabolic process [inference]

catechol-containing compound metabolic process [inference]

catecholamine metabolic process [inference]

norepinephrine metabolic process [inference]

norepinephrine biosynthetic process

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

catechol-containing compound biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

amine biosynthetic process [inference]

biogenic amine biosynthetic process [inference]

catecholamine biosynthetic process [inference]

norepinephrine biosynthetic process

multicellular organismal process [inference]

determination of adult lifespan

homeostatic process [inference]

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

monoatomic cation homeostasis [inference]

calcium ion homeostasis

inorganic ion homeostasis [inference]

calcium ion homeostasis

response to stimulus [inference]

response to external stimulus [inference]

response to extracellular stimulus [inference]

response to nutrient levels [inference]

response to nutrient [inference]

response to vitamin [inference]

response to vitamin D

response to endogenous stimulus [inference]

response to hormone [inference]

response to peptide hormone [inference]

response to angiotensin

response to activity

response to chemical [inference]

response to nutrient [inference]

response to vitamin [inference]

response to vitamin D

response to organic substance [inference]

response to hormone [inference]

response to peptide hormone [inference]

response to angiotensin

response to organonitrogen compound [inference]

response to peptide [inference]

response to peptide hormone [inference]

response to angiotensin

response to organic cyclic compound [inference]

response to vitamin D

response to lipid [inference]

response to vitamin D

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to peptide [inference]

response to peptide hormone [inference]

response to angiotensin

response to oxygen-containing compound [inference]

response to vitamin D

response to peptide [inference]

response to peptide hormone [inference]

response to angiotensin

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of developmental process [inference]

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

positive regulation of multicellular organismal process [inference]

positive regulation of ossification [inference]

positive regulation of bone mineralization

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

regulation of developmental process [inference]

positive regulation of developmental process [inference]

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

regulation of multicellular organismal development [inference]

regulation of biomineral tissue development [inference]

regulation of bone mineralization [inference]

positive regulation of bone mineralization

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway

regulation of multicellular organismal process [inference]

regulation of ossification [inference]

regulation of bone mineralization [inference]

positive regulation of bone mineralization

positive regulation of ossification [inference]

positive regulation of bone mineralization

positive regulation of multicellular organismal process [inference]

positive regulation of ossification [inference]

positive regulation of bone mineralization

regulation of multicellular organismal development [inference]

regulation of biomineral tissue development [inference]

regulation of bone mineralization [inference]

positive regulation of bone mineralization

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

regulation of biological quality [inference]

regulation of blood pressure [inference]

negative regulation of blood pressure [inference]

negative regulation of systemic arterial blood pressure

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GO Term	Evidence Code	PMID
extracellular region	TAS
plasma membrane	TAS
extracellular space
membrane
apical plasma membrane	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

plasma membrane region [inference]

apical plasma membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

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GO Term	Evidence Code	PMID
fibroblast growth factor receptor binding	IBA
beta-glucuronidase activity	IEA
vitamin D binding	IEA
hormone activity	IEA
beta-glucosidase activity	TAS	9363890

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

beta-glucuronidase activity

glucosidase activity [inference]

beta-glucosidase activity

binding [inference]

protein binding [inference]

signaling receptor binding [inference]

receptor ligand activity [inference]

hormone activity

growth factor receptor binding [inference]

fibroblast growth factor receptor binding

growth factor binding [inference]

fibroblast growth factor binding

lipid binding [inference]

steroid binding [inference]

vitamin D binding

small molecule binding [inference]

vitamin binding [inference]

vitamin D binding

organic cyclic compound binding [inference]

steroid binding [inference]

vitamin D binding

molecular function regulator activity [inference]

signaling receptor regulator activity [inference]

signaling receptor activator activity [inference]

receptor ligand activity [inference]

hormone activity

molecular function activator activity [inference]

signaling receptor activator activity [inference]

receptor ligand activity [inference]

hormone activity

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K14756

Name

klotho [EC:3.2.1.31]

References

Rhea

RHEA:17633

H₂O + a β-D-glucuronoside

an alcohol + D-glucuronate

Enzyme

3.2.1.31

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0040085	bacterial sepsis	DisGeNET
DOID:0050156	idiopathic pulmonary fibrosis	DisGeNET
DOID:0050336	hypophosphatemia	DisGeNET
DOID:0050387	nonpapillary renal cell carcinoma	DisGeNET
DOID:0050424	familial adenomatous polyposis	DisGeNET
DOID:0050445	X-linked dominant hypophosphatemic rickets	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050459	hyperphosphatemia	DisGeNET
DOID:0050569	Seckel syndrome	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000103	Polyuria
HP:0000787	Nephrolithiasis
HP:0000938	Osteopenia
HP:0001959	Polydipsia
HP:0002315	Headache
HP:0002514	Cerebral calcification
HP:0002905	Hyperphosphatemia
HP:0003072	Hypercalcemia
HP:0003165	Elevated circulating parathyroid hormone level

Displaying 1 entry
Disease ID	Disease Name
OMIM:617994	tumoral calcinosis, hyperphosphatemic, familial, 3

PubChem Disease

GHR Health Conditions

MedGen Diseases

Tumoral calcinosis, hyperphosphatemic, familial, 3

OMIM Phenotypes

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3

KEGG Diseases

Familial tumoral calcinosis

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	177557	WB:WBGene00016848
Caenorhabditis elegans	184000	WB:WBGene00017103
Drosophila melanogaster	39872	FB:FBgn0036659
Latimeria chalumnae	102346063		LATCH05163
Danio rerio	562316	ZFIN:ZDB-GENE-110221-1	DANRE00808
Ictalurus punctatus	108277377		ICTPU09077
Electrophorus electricus	113571748		ELEEL08006
Esox lucius	105008237		ESOLU18321
Salmo trutta	115153838		SALTR103202
Gadus morhua	115547276		GADMO54943

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements