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FBXL19 F-box and leucine rich repeat protein 19 [ Homo sapiens (human) ]

Gene ID: 54620, updated on 4-Jan-2025

Summary

Official Symbol
FBXL19provided by HGNC
Official Full Name
F-box and leucine rich repeat protein 19provided by HGNC
Primary source
HGNC:HGNC:25300
See related
Ensembl:ENSG00000099364 MIM:609085; AllianceGenome:HGNC:25300
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Fbl19; CXXC11; JHDM1C
Summary
This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Broad expression in testis (RPKM 9.4), brain (RPKM 5.2) and 23 other tissues See more
Orthologs
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Genomic context

See FBXL19 in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30922851..30948783)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31310313..31336246)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30934172..30960104)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30907105-30907608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915408-30915908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915909-30916409 Neighboring gene cardiotrophin 1 Neighboring gene cardiotrophin 2, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chr16:30932963-30933931 and GRCh37_chr16:30933932-30934899 Neighboring gene FBXL19 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 7559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7401 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30953885-30954827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30960708-30961226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30961745-30962262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30964322-30964887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30968383-30969146 Neighboring gene ORAI calcium release-activated calcium modulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7406 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30974870-30975017 Neighboring gene SET domain containing 1A, histone lysine methyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analysis identifies three psoriasis susceptibility loci.
EBI GWAS Catalog

Interactions

General gene information

Clone Names

  • MGC50505, DKFZp434K0410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone demethylase activity  
enables protein binding PubMed 
enables transcription coregulator activity  
enables ubiquitin-like ligase-substrate adaptor activity PubMed 
enables unmethylated CpG binding PubMed 
enables zinc ion binding PubMed 
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex PubMed 
is_active_in cytoplasm PubMed 
located_in cytosol  
located_in nucleus  

General protein information

Preferred Names
F-box/LRR-repeat protein 19
Names
jumonji C domain-containing histone demethylase 1C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001099784.3NP_001093254.2  F-box/LRR-repeat protein 19 isoform 1

    See identical proteins and their annotated locations for NP_001093254.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK098777, BC059173, CX781342, DC401737
    Consensus CDS
    CCDS45465.1
    UniProtKB/Swiss-Prot
    A8MT10, Q6PCT2, Q8N789, Q9NT14
    UniProtKB/TrEMBL
    B7Z7Y9
    Related
    ENSP00000455529.2, ENST00000562319.7
    Conserved Domains (5) summary
    pfam02008
    Location:5077
    zf-CXXC; CXXC zinc finger domain
    sd00034
    Location:510533
    LRR_AMN1; leucine-rich repeat [structural motif]
    cd15645
    Location:87148
    PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)
    pfam12937
    Location:424465
    F-box-like; F-box-like
    cl28166
    Location:466665
    AMN1; Antagonist of mitotic exit network protein 1
  2. NM_001282351.1NP_001269280.1  F-box/LRR-repeat protein 19 isoform 3

    See identical proteins and their annotated locations for NP_001269280.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG, and the resulting isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK127701, AL137589, DA244744
    Consensus CDS
    CCDS73873.1
    UniProtKB/TrEMBL
    H3BVB1
    Related
    ENSP00000458033.1, ENST00000471231.6
    Conserved Domains (3) summary
    cd09293
    Location:154353
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:198221
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:112153
    F-box-like
  3. NM_001382779.1NP_001369708.1  F-box/LRR-repeat protein 19 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC135048
    Consensus CDS
    CCDS92142.1
    UniProtKB/TrEMBL
    B7Z7Y9, H3BPZ0
    Related
    ENSP00000339712.4, ENST00000338343.10
    Conserved Domains (5) summary
    cd09293
    Location:446645
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:490513
    LRR_AMN1; leucine-rich repeat [structural motif]
    cd15645
    Location:67128
    PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)
    pfam02008
    Location:3057
    zf-CXXC; CXXC zinc finger domain
    pfam12937
    Location:404445
    F-box-like
  4. NM_001382780.1NP_001369709.1  F-box/LRR-repeat protein 19 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC135048
    UniProtKB/TrEMBL
    B7Z7Y9
    Conserved Domains (5) summary
    cd09293
    Location:425624
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:469492
    LRR_AMN1; leucine-rich repeat [structural motif]
    cd15645
    Location:89150
    PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)
    pfam02008
    Location:5279
    zf-CXXC; CXXC zinc finger domain
    pfam12937
    Location:383424
    F-box-like
  5. NM_001382781.1NP_001369710.1  F-box/LRR-repeat protein 19 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC135048
    UniProtKB/TrEMBL
    H7C112
    Related
    ENSP00000397913.1, ENST00000427128.5
    Conserved Domains (5) summary
    cd09293
    Location:403602
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:447470
    LRR_AMN1; leucine-rich repeat [structural motif]
    cd15645
    Location:67128
    PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)
    pfam02008
    Location:3057
    zf-CXXC; CXXC zinc finger domain
    pfam12937
    Location:361402
    F-box-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    30922851..30948783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31310313..31336246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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