Q9NXK8 (FXL12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
F-box/LRR-repeat protein 12

Alternative name(s):
F-box and leucine-rich repeat protein 12
F-box protein FBL12

Gene names

Name:	FBXL12
Synonyms:	FBL12

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	326 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex By similarity.
Subunit structure	Interacts with SKP1 and CUL1 By similarity.
Sequence similarities	Contains 1 F-box domain. Contains 8 LRR (leucine-rich) repeats.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara ubiquitin ligase complex Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
RNF32	Q9H0A6	2	EBI-719790,EBI-724829

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NXK8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NXK8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 326	326	F-box/LRR-repeat protein 12		PRO_0000119857
Regions
	Domain	1 – 47	47	F-box
	Repeat	51 – 78	28	LRR 1
	Repeat	86 – 111	26	LRR 2
	Repeat	113 – 133	21	LRR 3
	Repeat	161 – 185	25	LRR 4
	Repeat	186 – 211	26	LRR 5
	Repeat	212 – 236	25	LRR 6
	Repeat	237 – 261	25	LRR 7
	Repeat	266 – 291	26	LRR 8
Natural variations
	Alternative sequence	1 – 53	53	Missing in isoform 2.		VSP_008859
	Natural variant	63	1	L → H Found in a renal cell carcinoma case; somatic mutation. Ref.5		VAR_064712

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 1BC5C2A40CB91D68	FASTA	326	37,026
	10 20 30 40 50 60 MATLVELPDS VLLEIFSYLP VRDRIRISRV CHRWKRLVDD RWLWRHVDLT LYTMRPKVMW 70 80 90 100 110 120 HLLRRYMASR LHSLRMGGYL FSGSQAPQLS PALLRALGQK CPNLKRLCLH VADLSMVPIT 130 140 150 160 170 180 SLPSTLRTLE LHSCEISMAW LHKQQDPTVL PLLECIVLDR VPAFRDEHLQ GLTRFRALRS 190 200 210 220 230 240 LVLGGTYRVT ETGLDAGLQE LSYLQRLEVL GCTLSADSTL LAISRHLRDV RKIRLTVRGL 250 260 270 280 290 300 SAPGLAVLEG MPALESLCLQ GPLVTPEMPS PTEILSSCLT MPKLRVLELQ GLGWEGQEAE 310 320 KILCKGLPHC MVIVRACPKE SMDWWM
	Isoform 2 [UniParc]. Checksum: 87CDD76DE2301514	FASTA	273	30,491
	10 20 30 40 50 60 MRPKVMWHLL RRYMASRLHS LRMGGYLFSG SQAPQLSPAL LRALGQKCPN LKRLCLHVAD 70 80 90 100 110 120 LSMVPITSLP STLRTLELHS CEISMAWLHK QQDPTVLPLL ECIVLDRVPA FRDEHLQGLT 130 140 150 160 170 180 RFRALRSLVL GGTYRVTETG LDAGLQELSY LQRLEVLGCT LSADSTLLAI SRHLRDVRKI 190 200 210 220 230 240 RLTVRGLSAP GLAVLEGMPA LESLCLQGPL VTPEMPSPTE ILSSCLTMPK LRVLELQGLG 250 260 270 WEGQEAEKIL CKGLPHCMVI VRACPKESMD WWM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Colon mucosa and Thymus.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lymph.
[4]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]	"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A. Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HIS-63.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK000195 mRNA. Translation: BAA91002.1. AK027004 mRNA. Translation: BAB15622.1. AK093760 mRNA. Translation: BAG52760.1. CH471106 Genomic DNA. Translation: EAW84051.1. BC001586 mRNA. Translation: AAH01586.1.
IPI	IPI00015011. IPI00394987.
RefSeq	NP_060173.1. NM_017703.1.
UniGene	Hs.12439.
3D structure databases
ProteinModelPortal	Q9NXK8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NXK8. 6 interactions.
MINT	MINT-1409594.
STRING	9606.ENSP00000247977.
PTM databases
PhosphoSite	Q9NXK8.
Polymorphism databases
DMDM	38257780.
Proteomic databases
PaxDb	Q9NXK8.
PeptideAtlas	Q9NXK8.
PRIDE	Q9NXK8.
Protocols and materials databases
DNASU	54850.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000247977; ENSP00000247977; ENSG00000127452. ENST00000585379; ENSP00000467359; ENSG00000127452. ENST00000591009; ENSP00000468369; ENSG00000127452.
GeneID	54850.
KEGG	hsa:54850.
UCSC	uc002mmd.3. human.
Organism-specific databases
CTD	54850.
GeneCards	GC19M009920.
H-InvDB	HIX0014728. HIX0174428.
HGNC	HGNC:13611. FBXL12.
MIM	609079. gene.
neXtProt	NX_Q9NXK8.
PharmGKB	PA134934043.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG113187.
HOGENOM	HOG000112675.
HOVERGEN	HBG051672.
InParanoid	Q9NXK8.
KO	K10278.
OMA	EQDPTVL.
OrthoDB	EOG415GF7.
PhylomeDB	Q9NXK8.
Gene expression databases
Bgee	Q9NXK8.
CleanEx	HS_FBXL12.
Genevestigator	Q9NXK8.
GermOnline	ENSG00000127452. Homo sapiens.
Family and domain databases
InterPro	IPR001810. F-box_dom_cyclin-like. [Graphical view]
SMART	SM00256. FBOX. 1 hit. [Graphical view]
SUPFAM	SSF81383. F-box_dom_Skp2-like. 1 hit.
PROSITE	PS50181. FBOX. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54850.
NextBio	57696.
SOURCE	Search...

Entry information

Entry name

FXL12_HUMAN

Accession

Primary (citable) accession number: Q9NXK8
Secondary accession number(s): B3KSJ8, Q9H5K4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 7, 2003
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 96 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.