OLFM1 olfactomedin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OLFM1provided by HGNC
Official Full Name: olfactomedin 1provided by HGNC
Primary source: HGNC:HGNC:17187
See related: Ensembl:ENSG00000130558 MIM:605366; AllianceGenome:HGNC:17187
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMY; NOE1; OlfA; NOELIN1
Summary: 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]
Expression: Biased expression in brain (RPKM 118.4), adrenal (RPKM 7.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (135075505..135121184)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (147297503..147344934)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (137967351..138013030)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long Non-Coding RNA LPP-AS2 Plays an Anti-Tumor Role in Thyroid Carcinoma by Regulating the miR-132-3p/OLFM1 Axis.
Title: Long Non-Coding RNA LPP-AS2 Plays an Anti-Tumor Role in Thyroid Carcinoma by Regulating the miR-132-3p/OLFM1 Axis.
OLFM1 is a negative regulator of non-canonical NF-kappaB signalling by interacting with and inhibiting NIK. Thus, OLFM1 may serve as a valuable biomarker and therapeutic target for colorectal cancer (CRC) patients.
Title: Olfactomedin 1 negatively regulates NF-κB signalling and suppresses the growth and metastasis of colorectal cancer cells.
human chorionic gonadotropin stimulated miR-212, which down-regulated OLFM1 and CTBP1 expression in fallopian and endometrial epithelial cells to favor spheroid attachment
Title: MicroRNA-212 Regulates the Expression of Olfactomedin 1 and C-Terminal Binding Protein 1 in Human Endometrial Epithelial Cells to Enhance Spheroid Attachment In Vitro.
OLF domains from H. sapiens olfactomedin-1 and M. musculus gliomedin were biophysically, biochemically, and structurally characterized.
Title: Molecular Details of Olfactomedin Domains Provide Pathway to Structure-Function Studies.
Down-regulation of OLFM1 in fallopian tube epithelial cells enhances spheroid attachment to fallopian tube.
Title: Human chorionic gonadotropin stimulates spheroid attachment on fallopian tube epithelial cells through the mitogen-activated protein kinase pathway and down-regulation of olfactomedin-1.
Wnt activation suppresses Olfm-1 expression, and this may predispose a favorable microenvironment of the retained embryo in the Fallopian tube, leading to ectopic pregnancy in humans
Title: Wnt activation downregulates olfactomedin-1 in Fallopian tubal epithelial cells: a microenvironment predisposed to tubal ectopic pregnancy.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310711P2 (e-PCR)
- UniSTS:272643

SHGC-63472 (e-PCR)
- UniSTS:52745

WI-16144 (e-PCR)
- UniSTS:71711

SHGC-2407 (e-PCR)
- UniSTS:7727

SHGC-147780 (e-PCR)
- UniSTS:176007

SHGC-148221 (e-PCR)
- UniSTS:176267

D9S1770 (e-PCR)
- UniSTS:154262

SHGC-148670 (e-PCR)
- UniSTS:176537

D9S1017E (e-PCR)
- UniSTS:10973

SHGC-63473 (e-PCR)
- UniSTS:65761

G54602 (e-PCR)
- UniSTS:117737

D9S1074E (e-PCR)
- UniSTS:151292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in atrioventricular valve formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuronal signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of axon extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axonal growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: noelin

Names: neuroblastoma protein; neuronal olfactomedin-related ER localized protein; olfactomedin related ER localized protein; pancortin 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001282611.2 → NP_001269540.1 noelin isoform 4 precursor

See identical proteins and their annotated locations for NP_001269540.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (4) has distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK290478, AL390778, BU078731

Consensus CDS

CCDS65184.1

UniProtKB/Swiss-Prot

Q53XZ8, Q6IMJ4, Q6IMJ5, Q8N8R0, Q969S7, Q99452, Q99784

UniProtKB/TrEMBL

A8K104, A8K1K6

Related

ENSP00000360858.3, ENST00000371793.8

Conserved Domains (3) summary

smart00284
Location:228 → 478

OLF; Olfactomedin-like domains

PRK03918
Location:92 → 218

PRK03918; DNA double-strand break repair ATPase Rad50

pfam12308
Location:56 → 152

Noelin-1; Neurogenesis glycoprotein
NM_001282612.1 → NP_001269541.1 noelin isoform 5

See identical proteins and their annotated locations for NP_001269541.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (5) has distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK096304, AL390778, BU078731

Consensus CDS

CCDS65183.1

UniProtKB/TrEMBL

A8K104, A8K1K6

Related

ENSP00000360861.3, ENST00000371796.7

Conserved Domains (3) summary

smart00284
Location:201 → 451

OLF; Olfactomedin-like domains

pfam12308
Location:27 → 125

Noelin-1; Neurogenesis glycoprotein

cl25732
Location:65 → 191

SMC_N; RecF/RecN/SMC N terminal domain
NM_006334.6 → NP_006325.2 noelin isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a distinct 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus when compared to isoform 1.

Source sequence(s)

AL159992, AL390778

Consensus CDS

CCDS6987.1

Related

ENSP00000277415.11, ENST00000277415.15
NM_014279.7 → NP_055094.2 noelin isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL159992, AL390778

Consensus CDS

CCDS6986.1

Related

ENSP00000252854.4, ENST00000252854.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

135075505..135121184

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

147297503..147344934

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_058199.2: Suppressed sequence

Description

NM_058199.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.