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Protein

F-box and leucine-rich protein 22

Gene

FBXL22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC).1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

  • ubiquitin protein ligase activity Source: MGI

GO - Biological processi

  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: MGI
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box and leucine-rich protein 22
Gene namesi
Name:FBXL22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:27537. FBXL22.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134959373.

Polymorphism and mutation databases

BioMutaiFBXL22.
DMDMi519668655.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 247247F-box and leucine-rich protein 22PRO_0000247149Add
BLAST

Proteomic databases

PaxDbiQ6P050.
PRIDEiQ6P050.

Expressioni

Tissue specificityi

Enriched in cardiac muscle.1 Publication

Gene expression databases

BgeeiQ6P050.
CleanExiHS_FBXL22.
ExpressionAtlasiQ6P050. baseline and differential.

Organism-specific databases

HPAiHPA047624.
HPA054627.

Interactioni

Subunit structurei

Directly interacts with SKP1 and CUL1.1 Publication

Protein-protein interaction databases

BioGridi129675. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ6P050.
SMRiQ6P050. Positions 7-54.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini6 – 5247F-boxAdd
BLAST

Sequence similaritiesi

Contains 1 F-box domain.Curated

Phylogenomic databases

eggNOGiENOG410JR3A. Eukaryota.
ENOG410ZQWR. LUCA.
GeneTreeiENSGT00390000003748.
HOGENOMiHOG000112678.
InParanoidiQ6P050.
KOiK10288.
OMAiPDHSEFA.
OrthoDBiEOG7BW0KN.
PhylomeDBiQ6P050.
TreeFamiTF332457.

Family and domain databases

InterProiIPR001810. F-box_dom.
[Graphical view]
PfamiPF12937. F-box-like. 1 hit.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6P050-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWPLLTMHIT QLNRECLLHL FSFLDKDSRK SLARTCSQLH DVFEDPALWS
60 70 80 90 100
LLHFRSLTEL QKDNFLLGPA LRSLSICWHS SRVQVCSIED WLKSAFQRSI
110 120 130 140 150
CSRHESLVND FLLRVCDRLS AVRSPRRREA PAPSSGTPIA VGPKSPRWGG
160 170 180 190 200
PDHSEFADLR SGVTGARAAA RRGLGSLRAE RPSETPPAPG VSWGPPPPGA
210 220 230 240
PVVISVKQEE GKQGRTGRRS HRAAPPCGFA RTRVCPPTFP GADAFPQ
Length:247
Mass (Da):27,269
Last modified:June 26, 2013 - v2
Checksum:i9966D98688B8FF26
GO

Sequence cautioni

The sequence AAH65833.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151V → L.
Corresponds to variant rs8035931 [ dbSNP | Ensembl ].
VAR_033940

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC118274 Genomic DNA. No translation available.
BC065833 mRNA. Translation: AAH65833.1. Different initiation.
CCDSiCCDS10187.2.
RefSeqiNP_976307.2. NM_203373.2.
UniGeneiHs.631163.
Hs.656997.

Genome annotation databases

EnsembliENST00000360587; ENSP00000353794; ENSG00000197361.
GeneIDi283807.
KEGGihsa:283807.
UCSCiuc002amn.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC118274 Genomic DNA. No translation available.
BC065833 mRNA. Translation: AAH65833.1. Different initiation.
CCDSiCCDS10187.2.
RefSeqiNP_976307.2. NM_203373.2.
UniGeneiHs.631163.
Hs.656997.

3D structure databases

ProteinModelPortaliQ6P050.
SMRiQ6P050. Positions 7-54.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129675. 4 interactions.

Polymorphism and mutation databases

BioMutaiFBXL22.
DMDMi519668655.

Proteomic databases

PaxDbiQ6P050.
PRIDEiQ6P050.

Protocols and materials databases

DNASUi283807.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360587; ENSP00000353794; ENSG00000197361.
GeneIDi283807.
KEGGihsa:283807.
UCSCiuc002amn.5. human.

Organism-specific databases

CTDi283807.
GeneCardsiFBXL22.
H-InvDBHIX0012331.
HIX0172844.
HGNCiHGNC:27537. FBXL22.
HPAiHPA047624.
HPA054627.
MIMi609088. gene.
neXtProtiNX_Q6P050.
PharmGKBiPA134959373.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JR3A. Eukaryota.
ENOG410ZQWR. LUCA.
GeneTreeiENSGT00390000003748.
HOGENOMiHOG000112678.
InParanoidiQ6P050.
KOiK10288.
OMAiPDHSEFA.
OrthoDBiEOG7BW0KN.
PhylomeDBiQ6P050.
TreeFamiTF332457.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

GenomeRNAii283807.
PROiQ6P050.
SOURCEiSearch...

Gene expression databases

BgeeiQ6P050.
CleanExiHS_FBXL22.
ExpressionAtlasiQ6P050. baseline and differential.

Family and domain databases

InterProiIPR001810. F-box_dom.
[Graphical view]
PfamiPF12937. F-box-like. 1 hit.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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].
    Tissue: Testis.
  3. "Systematic analysis and nomenclature of mammalian F-box proteins."
    Jin J., Cardozo T., Lovering R.C., Elledge S.J., Pagano M., Harper J.W.
    Genes Dev. 18:2573-2580(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NOMENCLATURE.
  4. "F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo."
    Spaich S., Will R.D., Just S., Spaich S., Kuhn C., Frank D., Berger I.M., Wiemann S., Korn B., Koegl M., Backs J., Katus H.A., Rottbauer W., Frey N.
    Circ. Res. 111:1504-1516(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, SUBUNIT.

Entry informationi

Entry nameiFXL22_HUMAN
AccessioniPrimary (citable) accession number: Q6P050
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: June 26, 2013
Last modified: June 8, 2016
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-7 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.