GlyCosmos Portal

Submissions

EGF containing fibulin extracellular matrix protein 1

Summary

Gene Symbol

EFEMP1

Organism

Homo sapiens (human)

External Links

NCBI Gene

2202

PubChem

2202

Alliance of Genome Resources

HGNC:3218

Annotation

Keyword

Alternative splicing
Calcium
Disease variant
Disulfide bond
EGF-like domain
Extracellular matrix
Glycoprotein
Growth factor
Reference proteome
Repeat
Signal

Proteins

Displaying **all 4** entries
UniProt	Protein Name
Q12805	Extracellular protein S1-5 Fibrillin-like protein Fibulin-3
A0A0S2Z3V1
B2R6M6
A0A0S2Z4F1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
peptidyl-tyrosine phosphorylation	IDA	19804359
camera-type eye development	IEP	25406291
regulation of DNA-templated transcription	IDA	20005202
regulation of transcription, DNA-templated	IDA	20005202
epidermal growth factor receptor signaling pathway	IDA	19804359

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

peptidyl-amino acid modification [inference]

peptidyl-tyrosine modification [inference]

peptidyl-tyrosine phosphorylation

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

peptidyl-amino acid modification [inference]

peptidyl-tyrosine modification [inference]

peptidyl-tyrosine phosphorylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

peptidyl-amino acid modification [inference]

peptidyl-tyrosine modification [inference]

peptidyl-tyrosine phosphorylation

macromolecule modification [inference]

protein modification process [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

peptidyl-amino acid modification [inference]

peptidyl-tyrosine modification [inference]

peptidyl-tyrosine phosphorylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

peptidyl-amino acid modification [inference]

peptidyl-tyrosine modification [inference]

peptidyl-tyrosine phosphorylation

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]

ERBB signaling pathway [inference]

epidermal growth factor receptor signaling pathway

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

protein phosphorylation [inference]

peptidyl-tyrosine phosphorylation

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

embryonic organ morphogenesis [inference]

embryonic eye morphogenesis

sensory organ morphogenesis [inference]

eye morphogenesis [inference]

embryonic morphogenesis [inference]

embryonic organ morphogenesis [inference]

embryonic eye morphogenesis

anatomical structure development [inference]

animal organ development [inference]

sensory organ development [inference]

eye development [inference]

camera-type eye development

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cartilage development [inference]

negative regulation of chondrocyte differentiation

negative regulation of multicellular organismal process [inference]

negative regulation of cartilage development [inference]

negative regulation of chondrocyte differentiation

regulation of developmental process [inference]

regulation of cell differentiation [inference]

regulation of chondrocyte differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cell differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cartilage development [inference]

negative regulation of chondrocyte differentiation

regulation of multicellular organismal development [inference]

regulation of cartilage development [inference]

regulation of chondrocyte differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cartilage development [inference]

negative regulation of chondrocyte differentiation

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]

ERBB signaling pathway [inference]

epidermal growth factor receptor signaling pathway

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of transcription, DNA-templated

regulation of cell differentiation [inference]

regulation of chondrocyte differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cell differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cellular process [inference]

negative regulation of cell differentiation [inference]

negative regulation of chondrocyte differentiation

regulation of multicellular organismal process [inference]

negative regulation of multicellular organismal process [inference]

negative regulation of cartilage development [inference]

negative regulation of chondrocyte differentiation

regulation of multicellular organismal development [inference]

regulation of cartilage development [inference]

regulation of chondrocyte differentiation [inference]

negative regulation of chondrocyte differentiation

negative regulation of cartilage development [inference]

negative regulation of chondrocyte differentiation

Displaying **all 5** entries
GO Term	Evidence Code	PMID
extracellular matrix	IMP	35998264
collagen-containing extracellular matrix	HDA	20551380 25037231 28675934
extracellular region	HDA TAS	27068509
extracellular space	HDA IDA	16502470 20005202 20551380
extracellular exosome	HDA	23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

external encapsulating structure [inference]

extracellular matrix

collagen-containing extracellular matrix

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

Displaying entries **1 - 5** of 6 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
protein binding	IPI	12620389 16189514 16713569 18985028 19275936 21653829 25416956 25910212 26871637 31515488 32296183 32814053
extracellular matrix structural constituent	RCA	20551380 25037231 28675934
epidermal growth factor receptor activity	IDA	19804359
epidermal growth factor receptor binding	IDA	19804359
calcium ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

kinase activity [inference]

protein kinase activity [inference]

protein tyrosine kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

transmembrane receptor protein kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

phosphotransferase activity, alcohol group as acceptor [inference]

protein kinase activity [inference]

protein tyrosine kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

transmembrane receptor protein kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

catalytic activity, acting on a protein [inference]

protein kinase activity [inference]

protein tyrosine kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

transmembrane receptor protein kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

structural molecule activity [inference]

extracellular matrix structural constituent

binding [inference]

protein binding

signaling receptor binding [inference]

receptor ligand activity [inference]

growth factor activity

growth factor receptor binding [inference]

epidermal growth factor receptor binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

molecular transducer activity [inference]

signaling receptor activity [inference]

transmembrane signaling receptor activity [inference]

transmembrane receptor protein kinase activity [inference]

transmembrane receptor protein tyrosine kinase activity [inference]

epidermal growth factor receptor activity

molecular function regulator activity [inference]

signaling receptor regulator activity [inference]

signaling receptor activator activity [inference]

receptor ligand activity [inference]

growth factor activity

molecular function activator activity [inference]

signaling receptor activator activity [inference]

receptor ligand activity [inference]

growth factor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Kinase

Functional Category

J: Translation, ribosomal structure and biogenesis
K: Transcription
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
ATP binding
kinase activity
nucleotide binding
phosphorylation

Displaying **all 2** entries
InterPro
Protein kinase domain
Protein kinase-like domain superfamily

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0060745	Doyne honeycomb retinal dystrophy	Alliance of Genome Resources
DOID:3070	high grade glioma	Alliance of Genome Resources
DOID:3144	cutis laxa	Alliance of Genome Resources
DOID:4448	macular degeneration	Alliance of Genome Resources
DOID:657	adenoma	Alliance of Genome Resources
DOID:684	hepatocellular carcinoma	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 83 in total

1

2

3

4

5

…

Next ›

Last »
Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	216616		MGI:1339998	MOUSE03426
Rattus norvegicus	305604		RGD:1308528	RATNO08027
Pan troglodytes	455416	9598_0:0009f0		PANTR27660
Canis lupus familiaris	474604			CANLF01855
Bos taurus	511566			BOVIN02414
Danio rerio	563864		ZFIN:ZDB-GENE-081104-245	DANRE23531
Macaca mulatta	718984			MACMU07575
Monodelphis domestica	100033335			MONDO03064
Danio rerio	100332567		ZFIN:ZDB-GENE-130403-1
Oryctolagus cuniculus	100345739			RABIT08625

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements