FBXO38

Protein identityUniProt · HPA

UniProt accession

Q6PIJ6

Gene

FBXO38

Ensembl

ENSG00000145868

Chromosome

5

Canonical length

1188 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Plasma membrane,Primary cilium,Basal body

OverviewNCBI Gene

This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Canonical amino-acid sequenceUniProt

1188 residues, UniProt reviewed canonical sequence.

>Q6PIJ6|FBXO38
     1  MGPRKKSVKT CIMNNEIPEE MTADETKDYM NQLSHEVLCH IFRYLPLQDI MCMECLSRKL
    61  KEAVTLYLRV VRVVDLCAGR WWEYMPSGFT DASFLTLLKK MPDVEQLYGL HPRYLERRRV
   121  RGHEAFSIPG VLEALQACPN LVGVETSHLE LVESIWTYMP HVHILGKFRN RNGAFPIPPE
   181  NKLKIPIGAK IQTLHLVGVN VPEIPCIPML RHLYMKWVRL TKPQPFKDFL CISLRTFVMR
   241  NCAGPTNSLK YVPLVTGLAS ARNLEHLEMV RVPFLGGLIQ HVVEDSWRSG GFRNLHTIVL
   301  GACKNALEVD LGYLIITAAR RLHEVRIQPS LTKDGVFSAL KMAELEFPQF ETLHLGYVDE
   361  FLLQSRMANA DLVKYGLADV VENPGIITDI GMKAVNEVFS CIKYLAIYNC PHLHNPYNWI
   421  SDHSRWTRLV DINLVRCHAL KLDSFGQFIE LLPSLEFISL DQMFREPPKG CARVGLSAGT
   481  GIGVSSALVS NQNSNNDDNN AQNNNANIHD NNHHHPDDSD EENDFRQDLQ PGEQQFAADA
   541  LNEMEDIVQE DGEVVAESGN NTPAHSQAII PVDVDEEQAG PSGLQRVVKP TSITVHDSES
   601  DDEEDSLELQ EVWIPKNGTR RYSEREEKTG ESVQSRELSV SGKGKTPLRK RYNSHQMGQS
   661  KQFPLEESSC EKGCQVTSEQ IKADMKAARD IPEKKKNKDV YPSCSSTTAS TVGNSSSHNT
   721  ASQSPDFVRT VNSGGSSEPS PTEVDVSRQC ACSPGGSEDS EAMEEGDAES SVCPRCCCHR
   781  PQESQRRTSR CSDEERPSTS RACVVNGPDG TRSAFSFRTL PQGGSSGPAH DERTNGSGSG
   841  ATGEDRRGSS QPESCDVQSN EDYPRRPLTR ARSRLSHVLL VSESEVAKTK PRHAMKRKRT
   901  ADKSTSTSDP VIEDDHVQVL VLKSKNLVGV TMTNCGITDL VLKDCPKMMF IHATRCRVLK
   961  HLKVENAPIV NRFDYAQCKK LNMDQVLDQI LRMPPERNRI IYLRPMQQVD TLTLEQKLFS
  1021  GPYPYHICII HEFSNPPNVR NKVRIRSWMD TIANINQELI KYEFFPEATR SEEDLKKYPK
  1081  YPWGREIYTL EGVVDGAPYS MISDFPWLRS LRAAEPNSFA RYDFEDDEES TIYAPRRKGQ
  1141  LSADICMETI GEEISEMRQM KKGVFQRVVA IFIHYCDVNG EPVEDDYI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FBXO38 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FBXO38.

Disease | AllUniProt

Conditions FBXO38 is implicated in, by any mechanism.

• Neuronopathy, distal hereditary motor, autosomal dominant 6 (HMND6) MIM:615575

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 839 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neuronopathy, distal hereditary motor, type 2D
• Distal hereditary motor neuropathy type 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.27

gnomAD pLI

1

gnomAD missense Z

2.81

DepMap mean gene effect

0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adaptive immune response
• positive regulation of neuron projection development
• positive regulation of T cell activation
• positive regulation of T cell mediated immune response to tumor cell
• protein K48-linked ubiquitination
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

Molecular functions

• ubiquitin-like ligase-substrate adaptor activity

Cellular components

• cytoplasm
• cytosol
• nucleus
• SCF ubiquitin ligase complex

Protein domainsUniProt · Pfam · InterPro

• F-box domain
• Leucine-rich repeat domain superfamily
• F-box-like domain superfamily
• F-box domain
• F-box only protein 38

KeywordsUniProt

• Adaptive immunity
• Cytoplasm
• Immunity
• Neurodegeneration
• Neuropathy
• Nucleus
• Phosphoprotein
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of FBXO38 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KLF7