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

Gene ID: 54620, updated on 23-Nov-2021

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
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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30922851..30948783)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30934172..30960104)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene cardiotrophin 1 Neighboring gene cardiotrophin 2, pseudogene Neighboring gene FBXL19 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 7559 Neighboring gene ORAI calcium release-activated calcium modulator 3 Neighboring gene SET domain containing 1A, histone lysine methyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis identifies three psoriasis susceptibility loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC50505, DKFZp434K0410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone demethylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables unmethylated CpG binding IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in histone demethylation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein demethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

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
    Q6PCT2
    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/Swiss-Prot
    Q6PCT2
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001271651.1: Suppressed sequence

    Description
    NM_001271651.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_019085.1: Suppressed sequence

    Description
    NM_019085.1: This RefSeq was permanently suppressed because it contains a partial CDS, and currently there is insufficient support to represent a full-length transcript.
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