FBXL12 F-box and leucine rich repeat protein 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXL12provided by HGNC
Official Full Name: F-box and leucine rich repeat protein 12provided by HGNC
Primary source: HGNC:HGNC:13611
See related: Ensembl:ENSG00000127452 MIM:609079; AllianceGenome:HGNC:13611
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: Fbl12
Summary: Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in placenta (RPKM 6.0), bone marrow (RPKM 5.9) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (9810270..9819079, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (9936413..9946656, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (9920946..9929755, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FBXL12 degrades FANCD2 to regulate replication recovery and promote cancer cell survival under conditions of replication stress.
Title: FBXL12 degrades FANCD2 to regulate replication recovery and promote cancer cell survival under conditions of replication stress.
Study found that Fbl12 binds and ubiquitinates p21 which allows its stability. In addition, Fbl12 regulates default degradation under basal conditions but not under UV-stimulated conditions. These findings elucidate novel mechanisms that underlie the regulation of p21 expression level in cells.
Title: SCFFbl12 Increases p21Waf1/Cip1 Expression Level through Atypical Ubiquitin Chain Synthesis.
FBXL12 plays a key role in the down-regulation of ALDH3 activity in trophoblast stem cells and thus initiates trophoblast differentiation during placental development.
Title: FBXL12-Mediated Degradation of ALDH3 is Essential for Trophoblast Differentiation During Placental Development.
Fbxl12-induced CaMKI degradation attenuates p27 phosphorylation at these sites in early G1 and iii) activation of CaMKI during G1 transition followed by p27 phosphorylation appears to be upstream to other p27 phosphorylation events
Title: Fbxl12 triggers G1 arrest by mediating degradation of calmodulin kinase I.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D19S698E (e-PCR)
- UniSTS:150598

STS-R38103 (e-PCR)
- UniSTS:35162

SHGC-36605 (e-PCR)
- UniSTS:35163

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 protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: F-box/LRR-repeat protein 12

Names: F-box protein FBL12

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001316936.2 → NP_001303865.1 F-box/LRR-repeat protein 12 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice junction and lacks an alternate exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AA524458, AC008752, AK000195, DB127388

UniProtKB/Swiss-Prot

Q9NXK8

Conserved Domains (2) summary

sd00034
Location:71 → 92

LRR_AMN1; leucine-rich repeat [structural motif]

cl28166
Location:88 → 193

AMN1; Antagonist of mitotic exit network protein 1
NM_001316937.2 → NP_001303866.1 F-box/LRR-repeat protein 12 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice junction and a downstream AUG start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, 5, 6, 7, and 8 all encode the same isoform (c).

Source sequence(s)

AC008752, AK000195, DB127388

Consensus CDS

CCDS82287.1

UniProtKB/Swiss-Prot

Q9NXK8

Conserved Domains (3) summary

cd09293
Location:68 → 173

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:51 → 72

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:114 → 238

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001316938.2 → NP_001303867.1 F-box/LRR-repeat protein 12 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate exon and uses a downstream AUG start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, 5, 6, 7, and 8 all encode the same isoform (c).

Source sequence(s)

AK000195, AK027004

Consensus CDS

CCDS82287.1

UniProtKB/Swiss-Prot

Q9NXK8

Conserved Domains (3) summary

cd09293
Location:68 → 173

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:51 → 72

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:114 → 238

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001316939.2 → NP_001303868.1 F-box/LRR-repeat protein 12 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses an alternate splice junction, contains an alternate exon, and uses a downstream AUG start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, 5, 6, 7, and 8 all encode the same isoform (c).

Source sequence(s)

AK000195, BM019575

Consensus CDS

CCDS82287.1

UniProtKB/Swiss-Prot

Q9NXK8

Related

ENSP00000468369.1, ENST00000591009.1

Conserved Domains (3) summary

cd09293
Location:68 → 173

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:51 → 72

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:114 → 238

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001316940.2 → NP_001303869.1 F-box/LRR-repeat protein 12 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (6) uses an alternate splice junction and a downstream AUG start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, 5, 6, 7, and 8 all encode the same isoform (c).

Source sequence(s)

AK000195, BP367273, DB127388

Consensus CDS

CCDS82287.1

UniProtKB/Swiss-Prot

Q9NXK8

Related

ENSP00000467359.1, ENST00000585379.5

Conserved Domains (3) summary

cd09293
Location:68 → 173

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:51 → 72

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:114 → 238

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001316941.2 → NP_001303870.1 F-box/LRR-repeat protein 12 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks an alternate exon and uses a downstream AUG start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, 5, 6, 7, and 8 all encode the same isoform (c).

Source sequence(s)

AC008752, AK000195, CN427140, DB127388

Consensus CDS

CCDS82287.1

UniProtKB/Swiss-Prot

Q9NXK8

Conserved Domains (3) summary

cd09293
Location:68 → 173

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:51 → 72

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:114 → 238

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001316942.2 → NP_001303871.1 F-box/LRR-repeat protein 12 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (8) uses an alternate splice junction, contains an alternate exon, and uses a downstream AUG start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 4, 5, 6, 7, and 8 all encode the same isoform (c).

Source sequence(s)

AC008752, AK000195, BI760557, DB127388

Consensus CDS

CCDS82287.1

UniProtKB/Swiss-Prot

Q9NXK8

Conserved Domains (3) summary

cd09293
Location:68 → 173

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:51 → 72

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:114 → 238

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_017703.3 → NP_060173.1 F-box/LRR-repeat protein 12 isoform a

See identical proteins and their annotated locations for NP_060173.1

Status: VALIDATED

Description

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

Source sequence(s)

AK000195, DB127388

Consensus CDS

CCDS12218.1

UniProtKB/Swiss-Prot

B3KSJ8, Q9H5K4, Q9NXK8

Related

ENSP00000247977.3, ENST00000247977.9

Conserved Domains (3) summary

cd09293
Location:121 → 226

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:104 → 125

LRR_AMN1; leucine-rich repeat [structural motif]

pfam12937
Location:4 → 48

F-box-like

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

9810270..9819079 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722782.5 → XP_006722845.2 F-box/LRR-repeat protein 12 isoform X1

See identical proteins and their annotated locations for XP_006722845.2

Conserved Domains (3) summary

cd09293
Location:79 → 184

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:62 → 83

LRR_AMN1; leucine-rich repeat [structural motif]

cd21340
Location:125 → 249

PPP1R42; protein phosphatase 1 regulatory subunit 42