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

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FBXL19AS1 promotes the progression of nasopharyngeal carcinoma by acting as a competing endogenous RNA to sponge miR431 and upregulate PBOV1.
Title: FBXL19‑AS1 promotes the progression of nasopharyngeal carcinoma by acting as a competing endogenous RNA to sponge miR‑431 and upregulate PBOV1.
Long noncoding RNA FBXL19-AS1 induces tumor growth and metastasis by sponging miR-203a-3p in lung adenocarcinoma.
Title: Long noncoding RNA FBXL19-AS1 induces tumor growth and metastasis by sponging miR-203a-3p in lung adenocarcinoma.
Collectively these data unveil that FBXL19 functions as an antagonist of Rac3 by regulating its stability and regulates the TGFbeta1-induced E-cadherin down-regulation.
Title: F-box protein complex FBXL19 regulates TGFβ1-induced E-cadherin down-regulation by mediating Rac3 ubiquitination and degradation.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association analysis identifies three psoriasis susceptibility loci.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay 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 chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_001099784.3 → NP_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:50 → 77

zf-CXXC; CXXC zinc finger domain

sd00034
Location:510 → 533

LRR_AMN1; leucine-rich repeat [structural motif]

cd15645
Location:87 → 148

PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)

pfam12937
Location:424 → 465

F-box-like; F-box-like

cl28166
Location:466 → 665

AMN1; Antagonist of mitotic exit network protein 1
NM_001282351.1 → NP_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:154 → 353

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:198 → 221

LRR_AMN1; leucine-rich repeat [structural motif]

pfam12937
Location:112 → 153

F-box-like
NM_001382779.1 → NP_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:446 → 645

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:490 → 513

LRR_AMN1; leucine-rich repeat [structural motif]

cd15645
Location:67 → 128

PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)

pfam02008
Location:30 → 57

zf-CXXC; CXXC zinc finger domain

pfam12937
Location:404 → 445

F-box-like
NM_001382780.1 → NP_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:425 → 624

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:469 → 492

LRR_AMN1; leucine-rich repeat [structural motif]

cd15645
Location:89 → 150

PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)

pfam02008
Location:52 → 79

zf-CXXC; CXXC zinc finger domain

pfam12937
Location:383 → 424

F-box-like
NM_001382781.1 → NP_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:403 → 602

AMN1; Antagonist of mitotic exit network protein 1

sd00034
Location:447 → 470

LRR_AMN1; leucine-rich repeat [structural motif]

cd15645
Location:67 → 128

PHD_FXL19; PHD finger found in F-box and leucine-rich repeat protein 19 (FBXL19)

pfam02008
Location:30 → 57

zf-CXXC; CXXC zinc finger domain

pfam12937
Location:361 → 402

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

30922851..30948783

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

31310313..31336246

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.