LOCUS       NP_995308               1188 aa            linear   PRI 05-DEC-2024
DEFINITION  F-box only protein 38 isoform b [Homo sapiens].
ACCESSION   NP_995308 XP_005268570
VERSION     NP_995308.1
DBSOURCE    REFSEQ: accession NM_205836.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1188)
  AUTHORS   Pegat,A., Chanson,J.B., Lozeron,P., Joubert,B., Bani-Sadr,A.,
            Quadrio,I., Vidoni,L. and Latour,P.
  TITLE     Identification of rare variants in the FBXO38 gene of patients with
            chronic inflammatory demyelinating polyradiculoneuropathy
  JOURNAL   J Neuroimmunol 392, 578381 (2024)
   PUBMED   38823119
  REMARK    GeneRIF: Identification of rare variants in the FBXO38 gene of
            patients with chronic inflammatory demyelinating
            polyradiculoneuropathy.
REFERENCE   2  (residues 1 to 1188)
  AUTHORS   Wu,Y., Lin,Y., Shen,F., Huang,R., Zhang,Z., Zhou,M., Fang,Y.,
            Shen,J. and Fan,X.
  TITLE     FBXO38 deficiency promotes lysosome-dependent STING degradation and
            inhibits cGAS-STING pathway activation
  JOURNAL   Neoplasia 49, 100973 (2024)
   PUBMED   38277817
  REMARK    GeneRIF: FBXO38 deficiency promotes lysosome-dependent STING
            degradation and inhibits cGAS-STING pathway activation.
REFERENCE   3  (residues 1 to 1188)
  AUTHORS   Zheng,X., Jiang,Q., Han,M., Ye,F., Wang,M., Qiu,Y., Wang,J.,
            Gao,M., Hou,F. and Wang,H.
  TITLE     FBXO38 regulates macrophage polarization to control the development
            of cancer and colitis
  JOURNAL   Cell Mol Immunol 20 (11), 1367-1378 (2023)
   PUBMED   37821621
  REMARK    GeneRIF: FBXO38 regulates macrophage polarization to control the
            development of cancer and colitis.
REFERENCE   4  (residues 1 to 1188)
  AUTHORS   Saferali,A., Yun,J.H., Parker,M.M., Sakornsakolpat,P., Chase,R.P.,
            Lamb,A., Hobbs,B.D., Boezen,M.H., Dai,X., de Jong,K., Beaty,T.H.,
            Wei,W., Zhou,X., Silverman,E.K., Cho,M.H., Castaldi,P.J. and
            Hersh,C.P.
  CONSRTM   COPDGene Investigators; International COPD Genetics Consortium
            Investigators
  TITLE     Analysis of genetically driven alternative splicing identifies
            FBXO38 as a novel COPD susceptibility gene
  JOURNAL   PLoS Genet 15 (7), e1008229 (2019)
   PUBMED   31269066
  REMARK    GeneRIF: Study found that a COPD associated alternative splicing
            variant of previously unknown function may contribute to the
            inclusion of a new exon in the FBXO38 gene.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1188)
  AUTHORS   Georges,A., Coyaud,E., Marcon,E., Greenblatt,J., Raught,B. and
            Frappier,L.
  TITLE     USP7 Regulates Cytokinesis through FBXO38 and KIF20B
  JOURNAL   Sci Rep 9 (1), 2724 (2019)
   PUBMED   30804394
  REMARK    GeneRIF: USP7 Regulates Cytokinesis through FBXO38 and KIF20B.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1188)
  AUTHORS   Shang,D., Dong,L., Zeng,L., Yang,R., Xu,J., Wu,Y., Xu,R., Tao,H.
            and Zhang,N.
  TITLE     Two-stage comprehensive evaluation of genetic susceptibility of
            common variants in FBXO38, AP3B2 and WHAMM to severe chronic
            periodontitis
  JOURNAL   Sci Rep 5, 17882 (2015)
   PUBMED   26643602
  REMARK    GeneRIF: Our findings provide direct evidence for the association
            of FBXO38 and AP3B2 with severe chronic periodontitis in the Han
            Chinese population.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1188)
  AUTHORS   Sumner,C.J., d'Ydewalle,C., Wooley,J., Fawcett,K.A., Hernandez,D.,
            Gardiner,A.R., Kalmar,B., Baloh,R.H., Gonzalez,M., Zuchner,S.,
            Stanescu,H.C., Kleta,R., Mankodi,A., Cornblath,D.R., Boylan,K.B.,
            Reilly,M.M., Greensmith,L., Singleton,A.B., Harms,M.B., Rossor,A.M.
            and Houlden,H.
  TITLE     A dominant mutation in FBXO38 causes distal spinal muscular atrophy
            with calf predominance
  JOURNAL   Am J Hum Genet 93 (5), 976-983 (2013)
   PUBMED   24207122
REFERENCE   8  (residues 1 to 1188)
  AUTHORS   Divaris,K., Monda,K.L., North,K.E., Olshan,A.F., Lange,E.M.,
            Moss,K., Barros,S.P., Beck,J.D. and Offenbacher,S.
  TITLE     Genome-wide association study of periodontal pathogen colonization
  JOURNAL   J Dent Res 91 (7 Suppl), 21S-28S (2012)
   PUBMED   22699663
REFERENCE   9  (residues 1 to 1188)
  AUTHORS   Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
            Harper,J.W.
  TITLE     Systematic analysis and nomenclature of mammalian F-box proteins
  JOURNAL   Genes Dev 18 (21), 2573-2580 (2004)
   PUBMED   15520277
REFERENCE   10 (residues 1 to 1188)
  AUTHORS   Smaldone,S., Laub,F., Else,C., Dragomir,C. and Ramirez,F.
  TITLE     Identification of MoKA, a novel F-box protein that modulates
            Kruppel-like transcription factor 7 activity
  JOURNAL   Mol Cell Biol 24 (3), 1058-1069 (2004)
   PUBMED   14729953
  REMARK    GeneRIF: This publication identifies the F-box protein 38 mouse
            ortholog and characterizes its interaction with KLF7 during
            regulation of cell cycle progression.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091948.3 and AC114939.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 11, 2018 this sequence version replaced XP_005268570.1.
            
            Summary: 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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.46644.1,
                                           SRR1660807.18548.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340253.10/ ENSP00000342023.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     Protein         1..1188
                     /product="F-box only protein 38 isoform b"
                     /note="F-box only protein 38; modulator of KLF7 activity
                     homolog"
                     /calculated_mol_wt=133813
     Region          30..73
                     /region_name="F-box_FBXO38"
                     /note="F-box domain found in F-box only protein 38
                     (FBXO38) and similar proteins; cd22107"
                     /db_xref="CDD:438879"
     Site            order(33,37,40..41,44..45,49,51..52,56..58,60)
                     /site_type="other"
                     /note="putative Skp1 binding site [polypeptide binding]"
                     /db_xref="CDD:438879"
     Region          59..119
                     /region_name="Interaction with KLF7.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          194..201
                     /region_name="Nuclear export signal 1.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          307..316
                     /region_name="Nuclear export signal 2.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          451..460
                     /region_name="Nuclear export signal 3.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          487..526
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Site            591
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0; propagated from
                     UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Site            598
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0; propagated from
                     UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Site            600
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0; propagated from
                     UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Site            606
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0; propagated from
                     UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          620..666
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          685..766
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Site            736
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Site            740
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          787..909
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     Region          896..899
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:Q8BMI0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PIJ6.3)"
     CDS             1..1188
                     /gene="FBXO38"
                     /gene_synonym="Fbx38; HMN2D; HMND6; MOKA; SP329"
                     /coded_by="NM_205836.3:146..3712"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS4290.1"
                     /db_xref="GeneID:81545"
                     /db_xref="HGNC:HGNC:28844"
                     /db_xref="MIM:608533"
ORIGIN      
        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
//
