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

    Gene ID: 54850, updated on 14-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
    mouse all
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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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    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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    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

    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 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

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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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