FEM1A fem-1 homolog A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FEM1Aprovided by HGNC
Official Full Name: fem-1 homolog Aprovided by HGNC
Primary source: HGNC:HGNC:16934
See related: Ensembl:ENSG00000141965 MIM:613538; AllianceGenome:HGNC:16934
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPRAP
Summary: Enables EP4 subtype prostaglandin E2 receptor binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in negative regulation of inflammatory response and ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Part of Cul2-RING ubiquitin ligase complex. Is active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4791734..4801273)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4777196..4786749)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4791746..4801285)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular basis for ubiquitin ligase CRL2(FEM1C)-mediated recognition of C-degron.
Title: Molecular basis for ubiquitin ligase CRL2(FEM1C)-mediated recognition of C-degron.
Molecular basis for arginine C-terminal degron recognition by Cul2(FEM1) E3 ligase.
Title: Molecular basis for arginine C-terminal degron recognition by Cul2(FEM1) E3 ligase.
FEM1 proteins are ancient regulators of Stem-Loop Binding Protein.
Title: FEM1 proteins are ancient regulators of SLBP degradation.
Particular genotypes of the rs12460989 and rs8111933 loci of FEM1A gene are associated with PCOS in Chinese Han.
Title: [Polymorphisms of FEM1A gene in patients with polycystic ovary syndrome].
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
Title: Integrative predictive model of coronary artery calcification in atherosclerosis.
This study presents evidence suggesting a role for FEM1A and FEM1B in the pathogenesis of polycystic ovary syndrome.
Title: FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome.
PGE(2)-EP4 signaling augments NF-kappaB1 p105 protein stability through EPRAP after proinflammatory stimulation, limiting macrophage activation.
Title: Prostaglandin E receptor type 4-associated protein interacts directly with NF-kappaB1 and attenuates macrophage activation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Family-based analysis of candidate genes for polycystic ovary syndrome.
Fem1a downregulation may be involved in, and/or a marker of, an early cell fate defect fundamental to rhabdomyosarcoma pathogenesis
Title: The Fem1a gene is downregulated in Rhabdomyosarcoma.

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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

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

SHGC-63478 (e-PCR)
- UniSTS:70154

RH80896 (e-PCR)
- UniSTS:89363

D19S635E (e-PCR)
- UniSTS:150558

RH80153 (e-PCR)
- UniSTS:89380

D19S690E (e-PCR)
- UniSTS:150589

SHGC-63479 (e-PCR)
- UniSTS:1676

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables EP4 subtype prostaglandin E2 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein fem-1 homolog A

Names: FEM1-alpha; prostaglandin E receptor 4-associated protein

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_018708.3 → NP_061178.1 protein fem-1 homolog A

See identical proteins and their annotated locations for NP_061178.1

Status: VALIDATED

Source sequence(s)

AC005523

Consensus CDS

CCDS12135.1

UniProtKB/Swiss-Prot

B2RDI3, Q711P8, Q9BSK4, Q9NPN7, Q9NPW8

Related

ENSP00000269856.3, ENST00000269856.5

Conserved Domains (6) summary

smart00248
Location:43 → 70

ANK; ankyrin repeats

cd00204
Location:82 → 203

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:87 → 179

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:183 → 235

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:567 → 620

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:82 → 113

ANK; ANK repeat [structural motif]