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Protein

F-box only protein 38

Gene

FBXO38

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

Functioni

Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

SIGNORiQ6PIJ6.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box only protein 38
Alternative name(s):
Modulator of KLF7 activity homolog
Short name:
MoKA
Gene namesi
Name:FBXO38
ORF Names:SP329
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:28844. FBXO38.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuronopathy, distal hereditary motor, 2D (HMN2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal.
See also OMIM:615575
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070923206C → R in HMN2D; unable to promote activation of KLF7 target genes including CDKN1A and L1CAM in both cultured cells and patient-derived cells. 1 PublicationCorresponds to variant rs398122838dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi81545.
MalaCardsiFBXO38.
MIMi615575. phenotype.
OpenTargetsiENSG00000145868.
Orphaneti139525. Distal hereditary motor neuropathy type 2.
PharmGKBiPA134929999.

Polymorphism and mutation databases

DMDMi116241362.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001199331 – 1188F-box only protein 38Add BLAST1188

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei591PhosphothreonineBy similarity1
Modified residuei598PhosphoserineBy similarity1
Modified residuei600PhosphoserineBy similarity1
Modified residuei606PhosphoserineBy similarity1
Modified residuei736PhosphoserineCombined sources1
Modified residuei740PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6PIJ6.
MaxQBiQ6PIJ6.
PaxDbiQ6PIJ6.
PeptideAtlasiQ6PIJ6.
PRIDEiQ6PIJ6.

PTM databases

iPTMnetiQ6PIJ6.
PhosphoSitePlusiQ6PIJ6.

Expressioni

Gene expression databases

BgeeiENSG00000145868.
CleanExiHS_FBXO38.
GenevisibleiQ6PIJ6. HS.

Organism-specific databases

HPAiHPA034821.
HPA041444.

Interactioni

Subunit structurei

Interacts with KLF7. Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity).By similarity

Protein-protein interaction databases

BioGridi123513. 16 interactors.
IntActiQ6PIJ6. 10 interactors.
STRINGi9606.ENSP00000342023.

Structurei

3D structure databases

ProteinModelPortaliQ6PIJ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 75F-boxAdd BLAST46

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni59 – 119Interaction with KLF7By similarityAdd BLAST61

Domaini

The N-terminal region aa 1-349 seems to be involved in cytoplasmic localization.By similarity
The C-terminal region aa 473-1194 seems to be involved in nuclear localization.By similarity

Sequence similaritiesi

Contains 1 F-box domain.Curated

Phylogenomic databases

eggNOGiENOG410IFU5. Eukaryota.
ENOG410XS1U. LUCA.
GeneTreeiENSGT00390000013163.
HOVERGENiHBG051579.
InParanoidiQ6PIJ6.
KOiK10313.
OMAiTRCRVLK.
OrthoDBiEOG091G00W1.
PhylomeDBiQ6PIJ6.
TreeFamiTF331125.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR001810. F-box_dom.
IPR032675. L_dom-like.
[Graphical view]
PfamiPF00646. F-box. 1 hit.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6PIJ6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGPRKKSVKT CIMNNEIPEE MTADETKDYM NQLSHEVLCH IFRYLPLQDI
60 70 80 90 100
MCMECLSRKL KEAVTLYLRV VRVVDLCAGR WWEYMPSGFT DASFLTLLKK
110 120 130 140 150
MPDVEQLYGL HPRYLERRRV RGHEAFSIPG VLEALQACPN LVGVETSHLE
160 170 180 190 200
LVESIWTYMP HVHILGKFRN RNGAFPIPPE NKLKIPIGAK IQTLHLVGVN
210 220 230 240 250
VPEIPCIPML RHLYMKWVRL TKPQPFKDFL CISLRTFVMR NCAGPTNSLK
260 270 280 290 300
YVPLVTGLAS ARNLEHLEMV RVPFLGGLIQ HVVEDSWRSG GFRNLHTIVL
310 320 330 340 350
GACKNALEVD LGYLIITAAR RLHEVRIQPS LTKDGVFSAL KMAELEFPQF
360 370 380 390 400
ETLHLGYVDE FLLQSRMANA DLVKYGLADV VENPGIITDI GMKAVNEVFS
410 420 430 440 450
CIKYLAIYNC PHLHNPYNWI SDHSRWTRLV DINLVRCHAL KLDSFGQFIE
460 470 480 490 500
LLPSLEFISL DQMFREPPKG CARVGLSAGT GIGVSSALVS NQNSNNDDNN
510 520 530 540 550
AQNNNANIHD NNHHHPDDSD EENDFRQDLQ PGEQQFAADA LNEMEDIVQE
560 570 580 590 600
DGEVVAESGN NTPAHSQAII PVDVDEEQAG PSGLQRVVKP TSITVHDSES
610 620 630 640 650
DDEEDSLELQ EVWIPKNGTR RYSEREEKTG ESVQSRELSV SGKGKTPLRK
660 670 680 690 700
RYNSHQMGQS KQFPLEESSC EKGCQVTSEQ IKADMKAARD IPEKKKNKDV
710 720 730 740 750
YPSCSSTTAS TVGNSSSHNT ASQSPDFVRT VNSGGSSEPS PTEVDVSRQC
760 770 780 790 800
ACSPGGSEDS EAMEEGDAES SVCPRCCCHR PQESQRRTSR CSDEERPSTS
810 820 830 840 850
RACVVNGPDG TRSAFSFRTL PQGGSSGPAH DERTNGSGSG ATGEDRRGSS
860 870 880 890 900
QPESCDVQSN EDYPRRPLTR ARSRLSHVLL VSESEVAKTK PRHAMKRKRT
910 920 930 940 950
ADKSTSTSDP VIEDDHVQVL VLKSKNLVGV TMTNCGITDL VLKDCPKMMF
960 970 980 990 1000
IHATRCRVLK HLKVENAPIV NRFDYAQCKK LNMDQVLDQI LRMPPERNRI
1010 1020 1030 1040 1050
IYLRPMQQVD TLTLEQKLFS GPYPYHICII HEFSNPPNVR NKVRIRSWMD
1060 1070 1080 1090 1100
TIANINQELI KYEFFPEATR SEEDLKKYPK YPWGREIYTL EGVVDGAPYS
1110 1120 1130 1140 1150
MISDFPWLRS LRAAEPNSFA RYDFEDDEES TIYAPRRKGQ LSADICMETI
1160 1170 1180
GEEISEMRQM KKGVFQRVVA IFIHYCDVNG EPVEDDYI
Length:1,188
Mass (Da):133,944
Last modified:October 17, 2006 - v3
Checksum:i863A0F7333E95A0C
GO
Isoform 2 (identifier: Q6PIJ6-2) [UniParc]FASTAAdd to basket
Also known as: a

The sequence of this isoform differs from the canonical sequence as follows:
     810-884: Missing.

Show »
Length:1,113
Mass (Da):125,957
Checksum:i553F472DCB0C01A0
GO
Isoform 3 (identifier: Q6PIJ6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     640-809: Missing.
     810-884: Missing.

Show »
Length:943
Mass (Da):107,703
Checksum:i0AB4372A4BE9C91E
GO

Sequence cautioni

The sequence AAG17983 differs from that shown. Reason: Frameshift at position 783.Curated
The sequence AAH56147 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAK34945 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14783 differs from that shown. Reason: Frameshift at position 349.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti137A → S in AAH33454 (PubMed:15489334).Curated1
Sequence conflicti264L → S in BAB14783 (PubMed:14702039).Curated1
Sequence conflicti315I → N in BAB14783 (PubMed:14702039).Curated1
Sequence conflicti480T → A in AAH33454 (PubMed:15489334).Curated1
Sequence conflicti498D → E in AAH33454 (PubMed:15489334).Curated1
Sequence conflicti775 – 776RC → DA in AAG17983 (PubMed:15498874).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070923206C → R in HMN2D; unable to promote activation of KLF7 target genes including CDKN1A and L1CAM in both cultured cells and patient-derived cells. 1 PublicationCorresponds to variant rs398122838dbSNPEnsembl.1
Natural variantiVAR_028099592S → P.2 PublicationsCorresponds to variant rs10043775dbSNPEnsembl.1
Natural variantiVAR_049049894A → T.Corresponds to variant rs11949133dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011448640 – 809Missing in isoform 3. 1 PublicationAdd BLAST170
Alternative sequenceiVSP_011449810 – 884Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC005849 mRNA. Translation: AAH05849.1.
BC005873 mRNA. Translation: AAH05873.1.
BC033454 mRNA. Translation: AAH33454.1.
BC050424 mRNA. Translation: AAH50424.1.
BC056147 mRNA. Translation: AAH56147.1. Different initiation.
AF251055 mRNA. Translation: AAK34945.1. Different initiation.
AK024024 mRNA. Translation: BAB14783.1. Frameshift.
AF177339 mRNA. Translation: AAG17983.1. Frameshift.
CCDSiCCDS43384.1. [Q6PIJ6-2]
CCDS64285.1. [Q6PIJ6-3]
RefSeqiNP_001258652.1. NM_001271723.1. [Q6PIJ6-3]
NP_110420.3. NM_030793.4. [Q6PIJ6-2]
XP_005268570.1. XM_005268513.1. [Q6PIJ6-1]
UniGeneiHs.483772.

Genome annotation databases

EnsembliENST00000296701; ENSP00000296701; ENSG00000145868. [Q6PIJ6-3]
ENST00000340253; ENSP00000342023; ENSG00000145868. [Q6PIJ6-1]
ENST00000394370; ENSP00000377895; ENSG00000145868. [Q6PIJ6-2]
ENST00000513826; ENSP00000426410; ENSG00000145868. [Q6PIJ6-3]
GeneIDi81545.
KEGGihsa:81545.
UCSCiuc003lpg.3. human. [Q6PIJ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC005849 mRNA. Translation: AAH05849.1.
BC005873 mRNA. Translation: AAH05873.1.
BC033454 mRNA. Translation: AAH33454.1.
BC050424 mRNA. Translation: AAH50424.1.
BC056147 mRNA. Translation: AAH56147.1. Different initiation.
AF251055 mRNA. Translation: AAK34945.1. Different initiation.
AK024024 mRNA. Translation: BAB14783.1. Frameshift.
AF177339 mRNA. Translation: AAG17983.1. Frameshift.
CCDSiCCDS43384.1. [Q6PIJ6-2]
CCDS64285.1. [Q6PIJ6-3]
RefSeqiNP_001258652.1. NM_001271723.1. [Q6PIJ6-3]
NP_110420.3. NM_030793.4. [Q6PIJ6-2]
XP_005268570.1. XM_005268513.1. [Q6PIJ6-1]
UniGeneiHs.483772.

3D structure databases

ProteinModelPortaliQ6PIJ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123513. 16 interactors.
IntActiQ6PIJ6. 10 interactors.
STRINGi9606.ENSP00000342023.

PTM databases

iPTMnetiQ6PIJ6.
PhosphoSitePlusiQ6PIJ6.

Polymorphism and mutation databases

DMDMi116241362.

Proteomic databases

EPDiQ6PIJ6.
MaxQBiQ6PIJ6.
PaxDbiQ6PIJ6.
PeptideAtlasiQ6PIJ6.
PRIDEiQ6PIJ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296701; ENSP00000296701; ENSG00000145868. [Q6PIJ6-3]
ENST00000340253; ENSP00000342023; ENSG00000145868. [Q6PIJ6-1]
ENST00000394370; ENSP00000377895; ENSG00000145868. [Q6PIJ6-2]
ENST00000513826; ENSP00000426410; ENSG00000145868. [Q6PIJ6-3]
GeneIDi81545.
KEGGihsa:81545.
UCSCiuc003lpg.3. human. [Q6PIJ6-1]

Organism-specific databases

CTDi81545.
DisGeNETi81545.
GeneCardsiFBXO38.
HGNCiHGNC:28844. FBXO38.
HPAiHPA034821.
HPA041444.
MalaCardsiFBXO38.
MIMi608533. gene.
615575. phenotype.
neXtProtiNX_Q6PIJ6.
OpenTargetsiENSG00000145868.
Orphaneti139525. Distal hereditary motor neuropathy type 2.
PharmGKBiPA134929999.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFU5. Eukaryota.
ENOG410XS1U. LUCA.
GeneTreeiENSGT00390000013163.
HOVERGENiHBG051579.
InParanoidiQ6PIJ6.
KOiK10313.
OMAiTRCRVLK.
OrthoDBiEOG091G00W1.
PhylomeDBiQ6PIJ6.
TreeFamiTF331125.

Enzyme and pathway databases

SIGNORiQ6PIJ6.

Miscellaneous databases

ChiTaRSiFBXO38. human.
GenomeRNAii81545.
PROiQ6PIJ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145868.
CleanExiHS_FBXO38.
GenevisibleiQ6PIJ6. HS.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR001810. F-box_dom.
IPR032675. L_dom-like.
[Graphical view]
PfamiPF00646. F-box. 1 hit.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFBX38_HUMAN
AccessioniPrimary (citable) accession number: Q6PIJ6
Secondary accession number(s): Q6PK72
, Q7Z2U0, Q86VN3, Q9BXY6, Q9H837, Q9HC40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 123 of the entry and version 3 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 5
    Human chromosome 5: 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

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.