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FBXW8 F-box and WD repeat domain containing 8 [ Homo sapiens (human) ]

Gene ID: 26259, updated on 17-Nov-2020

Summary

Official Symbol
FBXW8provided by HGNC
Official Full Name
F-box and WD repeat domain containing 8provided by HGNC
Primary source
HGNC:HGNC:13597
See related
Ensembl:ENSG00000174989 MIM:609073
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBW6; FBW8; FBX29; FBXW6; FBXO29
Summary
This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 4.3), ovary (RPKM 2.4) and 25 other tissues See more
Orthologs

Genomic context

See FBXW8 in Genome Data Viewer
Location:
12q24.22
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (116910949..117032498)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117348756..117468953)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene harakiri, BCL2 interacting protein Neighboring gene ribosomal protein L36 pseudogene 15 Neighboring gene uncharacterized LOC100506551 Neighboring gene tescalcin Neighboring gene uncharacterized LOC105370010 Neighboring gene TESC antisense RNA 1 (head to head)

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of common variants associated with human hippocampal and intracranial volumes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33534

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IGI
Inferred from Genetic Interaction
more info
PubMed 
Golgi organization ISS
Inferred from Sequence or Structural Similarity
more info
 
cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
labyrinthine layer blood vessel development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dendrite morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription factor catabolic process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with 3M complex IDA
Inferred from Direct Assay
more info
PubMed 
Cul7-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
SCF ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
F-box/WD repeat-containing protein 8
Names
F-box and WD-40 domain protein 8
F-box and WD-40 domain-containing protein 8
F-box only protein 29

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_012174.2NP_036306.1  F-box/WD repeat-containing protein 8 isoform 2

    See identical proteins and their annotated locations for NP_036306.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 5' coding region, as compared to variant 1. It encodes isoform 2, which is missing an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC026368, AC083806, AC127164
    Consensus CDS
    CCDS44988.1
    UniProtKB/Swiss-Prot
    Q8N3Y1
    Related
    ENSP00000389144.2, ENST00000455858.2
    Conserved Domains (4) summary
    COG2319
    Location:125504
    WD40; WD40 repeat [General function prediction only]
    pfam12937
    Location:5296
    F-box-like; F-box-like
    sd00039
    Location:147187
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:129435
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_153348.3NP_699179.2  F-box/WD repeat-containing protein 8 isoform 1

    See identical proteins and their annotated locations for NP_699179.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC026368, AC083806, AC127164
    Consensus CDS
    CCDS9182.1
    UniProtKB/Swiss-Prot
    Q8N3Y1
    Related
    ENSP00000498999.1, ENST00000652555.1
    Conserved Domains (4) summary
    COG2319
    Location:191570
    WD40; WD40 repeat [General function prediction only]
    pfam12937
    Location:118162
    F-box-like; F-box-like
    sd00039
    Location:213253
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:195501
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    116910949..117032498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019176.1XP_016874665.1  F-box/WD repeat-containing protein 8 isoform X3

  2. XM_017019177.1XP_016874666.1  F-box/WD repeat-containing protein 8 isoform X4

  3. XM_005253868.3XP_005253925.1  F-box/WD repeat-containing protein 8 isoform X5

    See identical proteins and their annotated locations for XP_005253925.1

    Conserved Domains (3) summary
    COG2319
    Location:82383
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:255291
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:39349
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. XM_005253867.2XP_005253924.1  F-box/WD repeat-containing protein 8 isoform X5

    See identical proteins and their annotated locations for XP_005253924.1

    Conserved Domains (3) summary
    COG2319
    Location:82383
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:255291
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:39349
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_024448937.1XP_024304705.1  F-box/WD repeat-containing protein 8 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:123502
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:145185
    7WD40; WD40 repeat [structural motif]
    pfam12937
    Location:5092
    F-box-like
  6. XM_017019175.2XP_016874664.1  F-box/WD repeat-containing protein 8 isoform X2

    Related
    ENSP00000310686.6, ENST00000309909.10
    Conserved Domains (4) summary
    COG2319
    Location:110489
    WD40; WD40 repeat [General function prediction only]
    pfam12937
    Location:3781
    F-box-like; F-box-like
    sd00039
    Location:132172
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:114420
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  7. XM_017019178.2XP_016874667.1  F-box/WD repeat-containing protein 8 isoform X6

RNA

  1. XR_001748653.1 RNA Sequence

  2. XR_001748654.1 RNA Sequence

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