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

Gene ID: 54620, updated on 12-Oct-2019

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

Genomic context

See FBXL19 in Genome Data Viewer
Location:
16p11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30923055..30948783)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30934392..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 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?

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

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
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001099784.2NP_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
    ENSP00000369666.2, ENST00000380310.6
    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
    sd00034
    Location:198221
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:112153
    F-box-like; F-box-like
    cl28166
    Location:154353
    AMN1; Antagonist of mitotic exit network protein 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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
    30923055..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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