Endometriosis Knowledgebase

Search Result

Gene id

5947

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

RBP1 Gene UCSC Ensembl

Aliases

CRABP-I, CRBP, CRBP1, CRBPI, RBPC

Gene name

retinol binding protein 1

Alternate names

retinol-binding protein 1, CRBP-I, cellular retinol binding protein 1, cellular retinol-binding protein I, retinol-binding protein 1, cellular,

Gene location

3q23 (139539828: 139517433) Exons: 6 NC_000003.12

Gene summary(Entrez)

This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

OMIM

180260

Protein Summary

Protein general information

P09455

Name: Retinol binding protein 1 (Cellular retinol binding protein) (CRBP) (Cellular retinol binding protein I) (CRBP I)

Length: 135 Mass: 15,850

Tissue specificity: Detected in nearly all the tissues with higher expression in adult ovary, pancreas, pituitary gland and adrenal gland, and fetal liver. {ECO

Sequence

MPVDFTGYWKMLVNENFEEYLRALDVNVALRKIANLLKPDKEIVQDGDHMIIRTLSTFRNYIMDFQVGKEFEEDL
TGIDDRKCMTTVSWDGDKLQCVQKGEKEGRGWTQWIEGDELHLEMRVEGVVCKQVFKKVQ

Structural information

Interpro:	IPR012674 IPR031264 IPR000463 IPR031259 IPR000566
Prosite:	PS00214
Pfam:	PF00061
PDB:	5H8T 5H9A 5HA1 5HBS 5LJB 5LJC 5LJD 5LJE 5LJG 5LJH 5LJK
PDBsum:	5H8T 5H9A 5HA1 5HBS 5LJB 5LJC 5LJD 5LJE 5LJG 5LJH 5LJK
STRING:	ENSP00000232219;

Other Databases

GeneCards: RBP1; Malacards: RBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0002138	retinoic acid biosyntheti c process	IEA	biological_process
GO:0005215	transporter activity	IEA	molecular_function
GO:0005501	retinoid binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006776	vitamin A metabolic proce ss	IEA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0016918	retinal binding	IEA	molecular_function
GO:0019841	retinol binding	IEA	molecular_function
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0002138	retinoic acid biosyntheti c process	IEA	biological_process
GO:0005215	transporter activity	IEA	molecular_function
GO:0005501	retinoid binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006776	vitamin A metabolic proce ss	IEA	biological_process
GO:0006776	vitamin A metabolic proce ss	TAS	biological_process
GO:0006810	transport	IEA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0008289	lipid binding	IEA	molecular_function
GO:0016918	retinal binding	IEA	molecular_function
GO:0019841	retinol binding	IEA	molecular_function
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0005501	retinoid binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006776	vitamin A metabolic proce ss	TAS	biological_process

Diseases

Associated diseases	References
Endometriosis	PMID: 25143356
Endometriosis	INFBASE25143356
Polycystic ovary syndrome (PCOS)	PMID: 27846214

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25143356	Endometrio sis			42 patients wit h pathologicall y confirmed end ometriosis	Female infertility		Show abstract