FEM1B fem-1 homolog B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FEM1Bprovided by HGNC
Official Full Name: fem-1 homolog Bprovided by HGNC
Primary source: HGNC:HGNC:3649
See related: Ensembl:ENSG00000169018 MIM:613539; AllianceGenome:HGNC:3649
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: F1AA; F1A-ALPHA; FEM1-beta
Summary: This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in brain (RPKM 18.1), endometrium (RPKM 14.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q23

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (68277745..68295862)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (66096484..66114581)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (68570083..68588200)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Title: A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Structural insights into the ubiquitylation strategy of the oligomeric CRL2[FEM1B] E3 ubiquitin ligase.
Title: Structural insights into the ubiquitylation strategy of the oligomeric CRL2(FEM1B) E3 ubiquitin ligase.
Structural insights into SMCR8 C-degron recognition by FEM1B.
Title: Structural insights into SMCR8 C-degron recognition by FEM1B.
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.
These findings have implications for understanding the cellular functions of Fem1b, and the regulation of Gli1 oncoprotein activity.
Title: Fem1b promotes ubiquitylation and suppresses transcriptional activity of Gli1.
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.
the proapoptotic protein Fem1b is downregulated by the proteasome in malignant colon cancer cells and mediates proteasome inhibitor-induced apoptosis of these cells
Title: Fem1b, a proapoptotic protein, mediates proteasome inhibitor-induced apoptosis of human colon cancer cells.
FEM1B is required for Rad9 recruitment and CHK1 activation in response to replication stress.
Title: Human FEM1B is required for Rad9 recruitment and CHK1 activation in response to replication stress.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. 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

D15S1093 (e-PCR)
- UniSTS:20019

WI-19633 (e-PCR)
- UniSTS:74401

RH44821 (e-PCR)
- UniSTS:943

FEM1B_9044 (e-PCR)
- UniSTS:468413

D15S785 (e-PCR)
- UniSTS:2287

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables death receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables death receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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 apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in branching involved in prostate gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell maturation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA damage checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	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 B

Names: FEM-1-like death receptor binding protein; fem-1-like death receptor-binding protein alpha; fem-1-like in apoptotic pathway protein alpha

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.