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FBXW12 F-box and WD repeat domain containing 12 [ Homo sapiens (human) ]

Gene ID: 285231, updated on 13-Mar-2020

Summary

Official Symbol
FBXW12provided by HGNC
Official Full Name
F-box and WD repeat domain containing 12provided by HGNC
Primary source
HGNC:HGNC:20729
See related
Ensembl:ENSG00000164049 MIM:609075
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
FBW12; FBXO12; FBXO35
Summary
Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), 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
Low expression observed in reference dataset See more
Orthologs

Genomic context

See FBXW12 in Genome Data Viewer
Location:
3p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48372219..48394830)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48413709..48436190)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene FCF1 pseudogene 2 Neighboring gene NME/NM23 nucleoside diphosphate kinase 6 Neighboring gene serine peptidase inhibitor Kazal type 8 (putative) Neighboring gene microRNA 2115 Neighboring gene RNA, 7SL, cytoplasmic 321, pseudogene Neighboring gene plexin B1 Neighboring gene uncharacterized LOC105377077 Neighboring gene coiled-coil domain containing 51 Neighboring gene translation machinery associated 7 homolog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120385, MGC120386, MGC120387

Gene Ontology Provided by GOA

Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
F-box/WD repeat-containing protein 12
Names
F-box and WD-40 domain protein 12
F-box and WD-40 domain-containing protein 12
F-box only protein 35
F-box- and WD40-repeat-containing protein

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_001159927.1NP_001153399.1  F-box/WD repeat-containing protein 12 isoform 2

    See identical proteins and their annotated locations for NP_001153399.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to isoform 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC104448, AY247969, BC101304
    Consensus CDS
    CCDS54578.1
    UniProtKB/Swiss-Prot
    Q6X9E4
    Related
    ENSP00000414683.1, ENST00000415155.5
    Conserved Domains (1) summary
    pfam12937
    Location:446
    F-box-like; F-box-like
  2. NM_001159929.1NP_001153401.1  F-box/WD repeat-containing protein 12 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC104448, AY247969, BC101305
    Consensus CDS
    CCDS54577.1
    UniProtKB/Swiss-Prot
    Q6X9E4
    Related
    ENSP00000406139.1, ENST00000445170.5
  3. NM_207102.2NP_996985.2  F-box/WD repeat-containing protein 12 isoform 1

    See identical proteins and their annotated locations for NP_996985.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC104448, AY247969
    Consensus CDS
    CCDS2764.1
    UniProtKB/Swiss-Prot
    Q6X9E4
    Related
    ENSP00000296438.5, ENST00000296438.9
    Conserved Domains (1) summary
    pfam12937
    Location:448
    F-box-like; F-box-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    48372219..48394830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006224.1XP_016861713.1  F-box/WD repeat-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    Q6X9E4
    Conserved Domains (1) summary
    pfam12937
    Location:448
    F-box-like; F-box-like
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