Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9UKA2

- FBXL4_HUMAN

UniProt

Q9UKA2 - FBXL4_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

F-box/LRR-repeat protein 4

Gene

FBXL4

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

Functioni

GO - Biological processi

  1. ubiquitin-dependent protein catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Names & Taxonomyi

Protein namesi
Recommended name:
F-box/LRR-repeat protein 4
Alternative name(s):
F-box and leucine-rich repeat protein 4
F-box protein FBL4/FBL5
Gene namesi
Name:FBXL4
Synonyms:FBL4, FBL5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:13601. FBXL4.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial intermembrane space Source: UniProtKB
  2. nucleus Source: HPA
  3. ubiquitin ligase complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]: An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051I → T in MTDPS13. 1 Publication
VAR_070858
Natural varianti482 – 4821R → W in MTDPS13. 1 Publication
VAR_070859
Natural varianti551 – 5511I → N in MTDPS13. 1 Publication
VAR_070860
Natural varianti565 – 5651D → G in MTDPS13. 1 Publication
VAR_070861
Natural varianti568 – 5681G → A in MTDPS13. 1 Publication
VAR_070862
Natural varianti597 – 5971Q → P in MTDPS13. 1 Publication
VAR_070863

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615471. phenotype.
Orphaneti369897. Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
PharmGKBiPA28024.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 621621F-box/LRR-repeat protein 4PRO_0000119844Add
BLAST

Proteomic databases

MaxQBiQ9UKA2.
PaxDbiQ9UKA2.
PRIDEiQ9UKA2.

PTM databases

PhosphoSiteiQ9UKA2.

Expressioni

Tissue specificityi

Expressed in heart, kidney, liver, lung, pancreas, and placenta, but not in skeletal muscle.1 Publication

Gene expression databases

BgeeiQ9UKA2.
CleanExiHS_FBXL4.
GenevestigatoriQ9UKA2.

Organism-specific databases

HPAiCAB033362.
HPA029140.

Interactioni

Subunit structurei

Part of a SCF (SKP1-cullin-F-box) protein ligase complex.By similarity

Protein-protein interaction databases

BioGridi117626. 6 interactions.
IntActiQ9UKA2. 1 interaction.
STRINGi9606.ENSP00000229971.

Structurei

3D structure databases

ProteinModelPortaliQ9UKA2.
SMRiQ9UKA2. Positions 388-606.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini277 – 33256F-boxPROSITE-ProRule annotationAdd
BLAST
Repeati376 – 39722LRR 1Add
BLAST
Repeati402 – 42120LRR 2Add
BLAST
Repeati427 – 44822LRR 3Add
BLAST
Repeati452 – 47423LRR 4Add
BLAST
Repeati480 – 50122LRR 5Add
BLAST
Repeati504 – 52421LRR 6Add
BLAST
Repeati532 – 55827LRR 7Add
BLAST
Repeati559 – 58325LRR 8Add
BLAST
Repeati584 – 60926LRR 9Add
BLAST

Sequence similaritiesi

Contains 1 F-box domain.PROSITE-ProRule annotation
Contains 9 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiNOG287004.
GeneTreeiENSGT00760000119059.
HOGENOMiHOG000006948.
HOVERGENiHBG051588.
InParanoidiQ9UKA2.
KOiK10270.
OMAiFNHIAKL.
OrthoDBiEOG79GT73.
PhylomeDBiQ9UKA2.
TreeFamiTF323721.

Family and domain databases

InterProiIPR001810. F-box_dom.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view]
PfamiPF00646. F-box. 1 hit.
[Graphical view]
SMARTiSM00256. FBOX. 1 hit.
SM00367. LRR_CC. 1 hit.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UKA2-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSPVFPMLTV LTMFYYICLR RRARTATRGE MMNTHRAIES NSQTSPLNAE
60 70 80 90 100
VVQYAKEVVD FSSHYGSENS MSYTMWNLAG VPNVFPSSGD FTQTAVFRTY
110 120 130 140 150
GTWWDQCPSA SLPFKRTPPN FQSQDYVELT FEQQVYPTAV HVLETYHPGA
160 170 180 190 200
VIRILACSAN PYSPNPPAEV RWEILWSERP TKVNASQARQ FKPCIKQINF
210 220 230 240 250
PTNLIRLEVN SSLLEYYTEL DAVVLHGVKD KPVLSLKTSL IDMNDIEDDA
260 270 280 290 300
YAEKDGCGMD SLNKKFSSAV LGEGPNNGYF DKLPYELIQL ILNHLTLPDL
310 320 330 340 350
CRLAQTCKLL SQHCCDPLQY IHLNLQPYWA KLDDTSLEFL QSRCTLVQWL
360 370 380 390 400
NLSWTGNRGF ISVAGFSRFL KVCGSELVRL ELSCSHFLNE TCLEVISEMC
410 420 430 440 450
PNLQALNLSS CDKLPPQAFN HIAKLCSLKR LVLYRTKVEQ TALLSILNFC
460 470 480 490 500
SELQHLSLGS CVMIEDYDVI ASMIGAKCKK LRTLDLWRCK NITENGIAEL
510 520 530 540 550
ASGCPLLEEL DLGWCPTLQS STGCFTRLAH QLPNLQKLFL TANRSVCDTD
560 570 580 590 600
IDELACNCTR LQQLDILGTR MVSPASLRKL LESCKDLSLL DVSFCSQIDN
610 620
RAVLELNASF PKVFIKKSFT Q
Length:621
Mass (Da):70,097
Last modified:May 27, 2002 - v2
Checksum:iD8FD51A5C4F922D3
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51F → Y in AAF03699. (PubMed:10531037)Curated
Sequence conflicti42 – 421S → G in AAF09247. (PubMed:10945468)Curated
Sequence conflicti122 – 1221Q → K in AAF03699. (PubMed:10531037)Curated
Sequence conflicti126 – 1261Y → I in AAF03699. (PubMed:10531037)Curated
Sequence conflicti219 – 2191E → G in AAF03699. (PubMed:10531037)Curated
Sequence conflicti232 – 2321P → A in AAF03699. (PubMed:10531037)Curated
Sequence conflicti533 – 5331P → L in BAG35902. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051I → T in MTDPS13. 1 Publication
VAR_070858
Natural varianti482 – 4821R → W in MTDPS13. 1 Publication
VAR_070859
Natural varianti551 – 5511I → N in MTDPS13. 1 Publication
VAR_070860
Natural varianti565 – 5651D → G in MTDPS13. 1 Publication
VAR_070861
Natural varianti568 – 5681G → A in MTDPS13. 1 Publication
VAR_070862
Natural varianti597 – 5971Q → P in MTDPS13. 1 Publication
VAR_070863

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176699 mRNA. Translation: AAF03699.1.
AF174590 mRNA. Translation: AAF04511.1.
AF199355 mRNA. Translation: AAF09247.1.
AK313076 mRNA. Translation: BAG35902.1.
AL022395 Genomic DNA. Translation: CAB37981.1.
CH471051 Genomic DNA. Translation: EAW48489.1.
CH471051 Genomic DNA. Translation: EAW48490.1.
BC055010 mRNA. Translation: AAH55010.1.
BC091484 mRNA. Translation: AAH91484.1.
CCDSiCCDS5041.1.
RefSeqiNP_001265645.1. NM_001278716.1.
NP_036292.2. NM_012160.4.
XP_006715521.1. XM_006715458.1.
UniGeneiHs.536850.

Genome annotation databases

EnsembliENST00000229971; ENSP00000229971; ENSG00000112234.
ENST00000369244; ENSP00000358247; ENSG00000112234.
GeneIDi26235.
KEGGihsa:26235.
UCSCiuc003ppf.1. human.

Polymorphism databases

DMDMi21263631.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176699 mRNA. Translation: AAF03699.1 .
AF174590 mRNA. Translation: AAF04511.1 .
AF199355 mRNA. Translation: AAF09247.1 .
AK313076 mRNA. Translation: BAG35902.1 .
AL022395 Genomic DNA. Translation: CAB37981.1 .
CH471051 Genomic DNA. Translation: EAW48489.1 .
CH471051 Genomic DNA. Translation: EAW48490.1 .
BC055010 mRNA. Translation: AAH55010.1 .
BC091484 mRNA. Translation: AAH91484.1 .
CCDSi CCDS5041.1.
RefSeqi NP_001265645.1. NM_001278716.1.
NP_036292.2. NM_012160.4.
XP_006715521.1. XM_006715458.1.
UniGenei Hs.536850.

3D structure databases

ProteinModelPortali Q9UKA2.
SMRi Q9UKA2. Positions 388-606.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117626. 6 interactions.
IntActi Q9UKA2. 1 interaction.
STRINGi 9606.ENSP00000229971.

PTM databases

PhosphoSitei Q9UKA2.

Polymorphism databases

DMDMi 21263631.

Proteomic databases

MaxQBi Q9UKA2.
PaxDbi Q9UKA2.
PRIDEi Q9UKA2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000229971 ; ENSP00000229971 ; ENSG00000112234 .
ENST00000369244 ; ENSP00000358247 ; ENSG00000112234 .
GeneIDi 26235.
KEGGi hsa:26235.
UCSCi uc003ppf.1. human.

Organism-specific databases

CTDi 26235.
GeneCardsi GC06M099316.
HGNCi HGNC:13601. FBXL4.
HPAi CAB033362.
HPA029140.
MIMi 605654. gene.
615471. phenotype.
neXtProti NX_Q9UKA2.
Orphaneti 369897. Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
PharmGKBi PA28024.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287004.
GeneTreei ENSGT00760000119059.
HOGENOMi HOG000006948.
HOVERGENi HBG051588.
InParanoidi Q9UKA2.
KOi K10270.
OMAi FNHIAKL.
OrthoDBi EOG79GT73.
PhylomeDBi Q9UKA2.
TreeFami TF323721.

Miscellaneous databases

ChiTaRSi FBXL4. human.
GenomeRNAii 26235.
NextBioi 35467702.
PROi Q9UKA2.
SOURCEi Search...

Gene expression databases

Bgeei Q9UKA2.
CleanExi HS_FBXL4.
Genevestigatori Q9UKA2.

Family and domain databases

InterProi IPR001810. F-box_dom.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view ]
Pfami PF00646. F-box. 1 hit.
[Graphical view ]
SMARTi SM00256. FBOX. 1 hit.
SM00367. LRR_CC. 1 hit.
[Graphical view ]
SUPFAMi SSF81383. SSF81383. 1 hit.
PROSITEi PS50181. FBOX. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "cDNA cloning and expression analysis of new members of the mammalian F-box protein family."
    Ilyin G.P., Rialland M., Pigeon C., Guguen-Guillouzo C.
    Genomics 67:40-47(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "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].
    Tissue: Hippocampus.
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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: Eye and PNS.
  8. Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MTDPS13.
  9. Cited for: SUBCELLULAR LOCATION, VARIANTS MTDPS13 THR-205; TRP-482; ASN-551; GLY-565; ALA-568 AND PRO-597.

Entry informationi

Entry nameiFBXL4_HUMAN
AccessioniPrimary (citable) accession number: Q9UKA2
Secondary accession number(s): B2R7Q5
, E1P530, O95919, Q5BJH0, Q9UJU0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 27, 2002
Last modified: November 26, 2014
This is version 123 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3