Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10439
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol OLFM1   Gene   UCSC   Ensembl
Aliases AMY, NOE1, NOELIN1, OlfA
Gene name olfactomedin 1
Alternate names noelin, neuroblastoma protein, neuronal olfactomedin-related ER localized protein, olfactomedin related ER localized protein, pancortin 1,
Gene location 9q34.3 (135075242: 135121183)     Exons: 9     NC_000009.12
Gene summary(Entrez) This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 605366

Protein Summary

Protein general information Q99784  

Name: Noelin (Neuronal olfactomedin related ER localized protein) (Olfactomedin 1)

Length: 485  Mass: 55,343

Sequence MSVPLLKIGVVLSTMAMITNWMSQTLPSLVGLNTTKLSAAGGGTLDRSTGVLPTNPEESWQVYSSAQDSEGRCIC
TVVAPQQTMCSRDARTKQLRQLLEKVQNMSQSIEVLDRRTQRDLQYVEKMENQMKGLESKFKQVEESHKQHLARQ
FKAIKAKMDELRPLIPVLEEYKADAKLVLQFKEEVQNLTSVLNELQEEIGAYDYDELQSRVSNLEERLRACMQKL
ACGKLTGISDPVTVKTSGSRFGSWMTDPLAPEGDNRVWYMDGYHNNRFVREYKSMVDFMNTDNFTSHRLPHPWSG
TGQVVYNGSIYFNKFQSHIIIRFDLKTETILKTRSLDYAGYNNMYHYAWGGHSDIDLMVDESGLWAVYATNQNAG
NIVVSRLDPVSLQTLQTWNTSYPKRSAGEAFIICGTLYVTNGYSGGTKVHYAYQTNASTYEYIDIPFQNKYSHIS
MLDYNPKDRALYAWNNGHQILYNVTLFHVIRSDEL
Structural information
Protein Domains
Olfactomedin-like. (226-478)
Interpro:  IPR031217 IPR022082 IPR003112 IPR011044 IPR015943
Prosite:   PS00014 PS51132

Pfam:  
PF12308 PF02191

PDB:  
4XAT
PDBsum:   4XAT
STRING:   ENSP00000252854;
Other Databases GeneCards:  OLFM1;  Malacards:  OLFM1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003190 atrioventricular valve fo
rmation
ISS biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
ISS cellular_component
GO:0005623 cell
ISS cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
ISS biological_process
GO:0010629 negative regulation of ge
ne expression
ISS biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
ISS biological_process
GO:0023041 neuronal signal transduct
ion
ISS biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0030424 axon
ISS cellular_component
GO:0030516 regulation of axon extens
ion
ISS biological_process
GO:0043025 neuronal cell body
ISS cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0044295 axonal growth cone
ISS cellular_component
GO:0045202 synapse
IEA cellular_component
GO:0060317 cardiac epithelial to mes
enchymal transition
ISS biological_process
GO:0003190 atrioventricular valve fo
rmation
ISS biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005615 extracellular space
ISS cellular_component
GO:0005623 cell
ISS cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
ISS biological_process
GO:0010629 negative regulation of ge
ne expression
ISS biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
ISS biological_process
GO:0023041 neuronal signal transduct
ion
ISS biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0030424 axon
ISS cellular_component
GO:0030424 axon
IEA cellular_component
GO:0030516 regulation of axon extens
ion
ISS biological_process
GO:0042995 cell projection
IEA cellular_component
GO:0043025 neuronal cell body
ISS cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0044295 axonal growth cone
ISS cellular_component
GO:0045202 synapse
IEA cellular_component
GO:0045202 synapse
IEA cellular_component
GO:0060317 cardiac epithelial to mes
enchymal transition
ISS biological_process
GO:0003190 atrioventricular valve fo
rmation
ISS biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
ISS cellular_component
GO:0005623 cell
ISS cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
ISS biological_process
GO:0010629 negative regulation of ge
ne expression
ISS biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
ISS biological_process
GO:0023041 neuronal signal transduct
ion
ISS biological_process
GO:0030424 axon
ISS cellular_component
GO:0030516 regulation of axon extens
ion
ISS biological_process
GO:0043025 neuronal cell body
ISS cellular_component
GO:0044295 axonal growth cone
ISS cellular_component
GO:0060317 cardiac epithelial to mes
enchymal transition
ISS biological_process

Diseases

Associated diseases References
Endometriosis PMID: 12810542
Female infertility INFBASE12810542
Implantation defects INFBASE12810542
Endometriosis INFBASE12810542
Implantation failure PMID: 12810542

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12810542 Endometrio
sis


IL-15
proline-rich protein
B61
Dickkopf-1
glycodelin
N-acetylglucosamine-6-O-sulfotransferase
G0S2 protein
purine nucleoside phosphorylase
semaphorin E
neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA
Sam68-like phospho
Show abstract