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

Gene ID: 54850, updated on 21-Dec-2019

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
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

Genomic context

See FBXL12 in Genome Data Viewer
Location:
19p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (9810267..9820528, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (9920943..9930101, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 846 Neighboring gene ubiquitin conjugating enzyme E2 L4 (pseudogene) Neighboring gene uncharacterized LOC100505555 Neighboring gene ribosomal protein L10 pseudogene 15 Neighboring gene uncharacterized LOC100996288 Neighboring gene ubiquitin like 5

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20188

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001316936.2NP_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:7192
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:88193
    AMN1; Antagonist of mitotic exit network protein 1
  2. NM_001316937.2NP_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 (2) summary
    sd00034
    Location:5172
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:68173
    AMN1; Antagonist of mitotic exit network protein 1
  3. NM_001316938.2NP_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 (2) summary
    sd00034
    Location:5172
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:68173
    AMN1; Antagonist of mitotic exit network protein 1
  4. NM_001316939.2NP_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 (2) summary
    sd00034
    Location:5172
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:68173
    AMN1; Antagonist of mitotic exit network protein 1
  5. NM_001316940.2NP_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 (2) summary
    sd00034
    Location:5172
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:68173
    AMN1; Antagonist of mitotic exit network protein 1
  6. NM_001316941.2NP_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 (2) summary
    sd00034
    Location:5172
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:68173
    AMN1; Antagonist of mitotic exit network protein 1
  7. NM_001316942.2NP_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 (2) summary
    sd00034
    Location:5172
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl28166
    Location:68173
    AMN1; Antagonist of mitotic exit network protein 1
  8. NM_017703.3NP_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
    Q9NXK8
    Related
    ENSP00000247977.3, ENST00000247977.9
    Conserved Domains (3) summary
    sd00034
    Location:104125
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:448
    F-box-like; F-box-like
    cl28166
    Location:121226
    AMN1; Antagonist of mitotic exit network protein 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    9810267..9820528 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026912.2XP_016882401.1  F-box/LRR-repeat protein 12 isoform X1

  2. XM_006722782.4XP_006722845.2  F-box/LRR-repeat protein 12 isoform X2

    See identical proteins and their annotated locations for XP_006722845.2

    Conserved Domains (2) summary
    cd09293
    Location:79184
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:6283
    LRR_AMN1; leucine-rich repeat [structural motif]
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