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FBXO27 Gene

protein-coding GIFtS: 48
GCID: GC19M039483

F-Box Protein 27

(Previous name: F-box only protein 27)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
F-Box Protein 27¹ ²		FBX27³ ⁵
FBG5² ³ ⁵		Fbx27²
F-Box Only Protein 27¹ ²		F-Box Protein FBG5²
F-Box/G-Domain Protein 5² ³

External Ids:	HGNC: 18753¹	Entrez Gene: 126433²	Ensembl: ENSG00000161243⁷	OMIM: 609099⁵	UniProtKB: Q8NI29³

Export aliases for FBXO27 gene to outside databases

Previous GC identifers: GC19M040127 GC19M039905 GC19M044190 GC19M044206 GC19M039516 GC19M035961

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FBXO27 Gene:

Members of the F-box protein family, such as FBXO27, 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)

GeneCards Summary for FBXO27 Gene:

FBXO27 (F-box protein 27) is a protein-coding gene. Diseases associated with FBXO27 include chronic myeloid leukemia, and myeloid leukemia. GO annotations related to this gene include glycoprotein binding. An important paralog of this gene is FBXO17.

UniProtKB/Swiss-Prot: FBX27_HUMAN, Q8NI29

Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000019.10 NT_011109.17 NC_018930.2

Regulatory elements:

Regulatory transcription factor binding sites in the FBXO27 gene promoter:
Sp1 MAZR SREBP-1c Pax-6 Lmo2 C/EBPalpha Roaz AREB6 ZIC2/Zic2 Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FBXO27 promoter sequence

Search Chromatin IP Primers for FBXO27

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXO27

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.2

FBXO27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO27 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M039483: view genomic region (about GC identifiers)

Start:	39,481,354 bp from pter	End:	39,523,425 bp from pter
Size:	42,072 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FBX27_HUMAN, Q8NI29 (See protein sequence)

Recommended Name: F-box only protein 27

Size: 283 amino acids; 31623 Da

Subunit: Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with SKP1 and CUL1

Secondary accessions: Q96C87

Explore the universe of human proteins at neXtProt for FBXO27: NX_Q8NI29

Explore proteomics data for FBXO27 at MOPED

See FBXO27 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_849142.1

ENSEMBL proteins:

ENSP00000471267 ENSP00000292853 ENSP00000470015 ENSP00000471772 ENSP00000437662

Reactome Protein details: Q8NI29

FBXO27 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

FBXO: F-boxes / "other"

3 InterPro protein domains:

IPR007397 F-box-assoc_dom

IPR008979 Galactose-bd-like

IPR001810 F-box_dom

Graphical View of Domain Structure for InterPro Entry Q8NI29

ProtoNet protein and cluster: Q8NI29

1 Blocks protein domain: IPB007397 F-box associated region

UniProtKB/Swiss-Prot: FBX27_HUMAN, Q8NI29

Similarity: Contains 1 F-box domain

Similarity: Contains 1 FBA (F-box associated) domain

FBXO27 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: FBX27_HUMAN, Q8NI29

Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IDA	18203720
GO:0005515	protein binding	IPI	18203720

FBXO27 for ontologies About GeneDecksing

Animal Models:

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		SwitchGear 3'UTR luciferase reporter plasmid: FBXO27 3' UTR sequence

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	2
nucleus	2
extracellular	1
peroxisome	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019005	SCF ubiquitin ligase complex	IDA	18203720

FBXO27 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for FBXO27 About

See pathways by source

SuperPath

Contained pathways About

Class I MHC mediated antigen processing and presentation

	Class I MHC mediated antigen processing and presentation	0.84			Adaptive Immune System	0.41
	Antigen processing- Ubiquitination and Proteasome degradation	0.84

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for FBXO27

Antigen processing: Ubiquitination & Proteasome degradation

FBXO27 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for FBXO27
Interactions:

Search GeneGlobe Interaction Network for FBXO27

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for FBXO27 (Q8NI29³ ENSP00000292853⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CUL1	Q13616³, ENSP00000326804⁴	I2D: score=1 STRING: ENSP00000326804
RBX1	P62877³, ENSP00000216225⁴	I2D: score=1 STRING: ENSP00000216225
STUB1	Q9UNE7³, ENSP00000219548⁴	I2D: score=1 STRING: ENSP00000219548
SKP1	P63208³, ENSP00000231487⁴	I2D: score=1 STRING: ENSP00000231487
FBXO44	ENSP00000251547⁴	STRING: ENSP00000251547

About this table

Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030163	protein catabolic process	IEA	--

FBXO27 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Browse Tocris compounds for FBXO27 (FBX27)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FBXO27 gene:

NM_178820.3

Unigene Cluster for FBXO27:

F-box protein 27

Hs.187461 [show with all ESTs]

Unigene Representative Sequence: NM_178820

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000598394 ENST00000292853(uc002okh.3) ENST00000600828 ENST00000594770

ENST00000595166 ENST00000593847 ENST00000509137

miRNA Products:		Block miRNA regulation of human, mouse, rat FBXO27 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate FBXO27 (see all 17):
		hsa-miR-1321 hsa-miR-185* hsa-miR-15a hsa-miR-124 hsa-miR-424 hsa-miR-506 hsa-miR-556-3p hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: FBXO27 3' UTR sequence

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		QuantiFast Probe-based Assays in human, mouse, rat FBXO27

Additional mRNA sequence:

AF436061.1 BC014527.2 BC030060.1

6 DOTS entries:

DT.405318 DT.100699149 DT.100768797 DT.100812612 DT.91653415 DT.99965435

Selected AceView cDNA sequences (see all 69):

AA421646 CR615928 BF809394 AW137280 BX506083 BI193057 BG327002 BI602178

BC014527 BG325859 BC030060 BU501973 BG832059 BF979780 NM_178820 BM045436

BE904722 BG183119 BE905203 BV195452 BX377759 BG830602 BG170755 BG830842

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for FBXO27 About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6
SP1:							-
SP2:							-
SP3:							-
SP4:

ECgene alternative splicing isoforms for FBXO27

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FBXO27 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

FBXO27 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

FBXO27 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.187461

UniProtKB/Swiss-Prot: FBX27_HUMAN, Q8NI29

Tissue specificity: Predominantly expressed in brain, heart and kidney. Expressed at lower levels in liver and

lung

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for FBXO27 gene from Selected species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fbxo27^{1 , 5}	F-box protein 27^{1, 5}	82(n)¹ 79.71(a)¹		7 (16.89 cM)⁵ 233040¹ NM_207238.3¹ NP_997121.1¹ 28692849⁵
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	49(a)	1 → many	GL343870.1(120044-129712)
tropical clawed frog (Xenopus tropicalis)	Amphibia	fbxo27¹	F-box protein 27	53.08(n) 51.07(a)		779735 NM_001078814.1 NP_001072282.1

ENSEMBL Gene Tree for FBXO27 (if available)
TreeFam Gene Tree for FBXO27 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for FBXO27 gene

FBXO17² FBXO6² FBXO2² FBXO44² NCCRP1²

5 SIMAP similar genes for FBXO27 using alignment to 4 protein entries: FBX27_HUMAN (see all proteins):

FBXO17 ETFA FBXO2 FBXO44 FBXO6

FBXO27 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7259800^1,2	C,F	--	35961350(+)	`CATGCT/GTTTCT`	1	--	int¹		2		WA NA	238
rs6508839^1,2	C,F,A,H	--	35961460(+)	`ACGGAA/GTCTCG`	1	--	int¹		9		NA WA EA	372
rs141247166^1,2		--	35961464(+)	`AGTCTC/TGCTCT`	1	--	int¹		0	--	--	--	--
rs187237602^1,2		--	35961465(+)	`GTCTCA/GCTCTT`	1	--	int¹		0	--	--	--	--
rs150810215^1,2		--	35961472(+)	`TCTTTC/TGCCCA`	1	--	int¹		0	--	--	--	--
rs139400376^1,2		--	35961487(+)	`GGAGCA/GCAGTG`	1	--	int¹		0	--	--	--	--
rs7258997^1,2	C	--	35961508(+)	`GGCTCA/TCTGCA`	1	--	int¹		0	--	--	--	--
rs6508840^1,2	C,F,A,H	--	35961558(+)	`CCTCCT/CGAGTA`	1	--	int¹		5		NA WA	10
rs189407319^1,2	C	--	35961574(+)	`GATTAC/TAGGCG`	1	--	int¹		0	--	--	--	--
rs139798126^1,2		--	35961588(+)	`GCCACC/TATGCC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FBXO27 (39481354 - 39523425 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for FBXO27: --

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing FBXO27

DNA2.0 Custom Variant and Variant Library Synthesis for FBXO27

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609099 OMIM disorders: --

5 diseases for FBXO27:
About MalaCards

chronic myeloid leukemia myeloid leukemia type 1 diabetes leukemia

neuroblastoma

FBXO27 for disorders About GeneDecksing

Genetic Association Database (GAD): FBXO27

Export disorders for FBXO27 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FBXO27 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with FBXO27)

Utopia: connect your pdf to the dynamic
world of online information

A new subfamily of structurally related human F-box proteins. (PubMed id 12383498)^{1, 2, 9} Ilyin G.P....Guguen-Guillouzo C. (Gene 2002)
Diversity in tissue expression, substrate binding, and SCF complex formation for a lectin family of ubiquitin ligases. (PubMed id 18203720)^{1, 2, 9} Glenn K.A.... Paulson H.L. (J. Biol. Chem. 2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
[Clinical conference: Thrombocythemic introduction to chronic myeloid leukemia]. (PubMed id 126433)^{1, 3} Bauters F. and Goudemand M. (Nouv Rev Fr Hematol 1975)
Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)¹ Scifo E....Lalowski M. (J. Proteome Res. 2013)
Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)¹ Taipale M....Lindquist S. (Cell 2012)
Skp1 stabilizes the conformation of F-box proteins. (PubMed id 21640084)¹ Yoshida Y....Tanaka K. (Biochem. Biophys. Res. Commun. 2011)
A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)⁴ Paterson A.D....Bull S.B. (Diabetes 2010)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (EMBO J. 2009)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (Genomics 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 126433	HGNC: 18753	AceView: FBXO27	Ensembl:ENSG00000161243	euGenes: HUgn126433
ECgene: FBXO27	H-InvDB: FBXO27

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FBXO27	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FBXO27 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FBXO27 gene:
Search GeneIP for patents involving FBXO27

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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FBXO27 Gene

F-Box Protein 27

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FBXO27 Gene

F-Box Protein 27

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