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

Gene ID: 54850, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See FBXL12 in Genome Data Viewer
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_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 846 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:9889978-9890153 Neighboring gene ubiquitin conjugating enzyme E2 L4 (pseudogene) Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:9894821-9895652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:9895653-9896484 Neighboring gene uncharacterized LOC100505555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10041 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:9903248-9903748 Neighboring gene uncharacterized LOC124904635 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:9903749-9904249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10046 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene ribosomal protein L10 pseudogene 15

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. The intronic region of Fbxl12 functions as an alternative promoter regulated by UV irradiation. Tsuruta F, et al. Biochem Biophys Rep, 2015 Sep. PMID 29124172, Free PMC Article
  2. FBXL12 degrades FANCD2 to regulate replication recovery and promote cancer cell survival under conditions of replication stress. Brunner A, et al. Mol Cell, 2023 Oct 19. PMID 37591242, Free PMC Article
  3. A new ubiquitin ligase involved in p57KIP2 proteolysis regulates osteoblast cell differentiation. Kim M, et al. EMBO Rep, 2008 Sep. PMID 18660753, Free PMC Article
  4. An SCF complex containing Fbxl12 mediates DNA damage-induced Ku80 ubiquitylation. Postow L, et al. Cell Cycle, 2013 Feb 15. PMID 23324393, Free PMC Article
  5. SCFFbl12 Increases p21Waf1/Cip1 Expression Level through Atypical Ubiquitin Chain Synthesis. Tsuruta F, et al. Mol Cell Biol, 2016 Aug 15. PMID 27215384, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20188

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 SCF-dependent proteasomal 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
  
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
F-box/LRR-repeat protein 12
Names
F-box protein FBL12

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    9810270..9819079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    9936413..9946656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321327.1 → XP_054177302.1  F-box/LRR-repeat protein 12 isoform X2

  2. XM_054321328.1 → XP_054177303.1  F-box/LRR-repeat protein 12 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NXK8.1 GenPept UniProtKB/Swiss-Prot:Q9NXK8

Gene LinkOut

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