The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008] See more...

Aliases for FJX1 Gene

Aliases for FJX1 Gene

  • Four-Jointed Box Kinase 1 2 3 5
  • Putative Secreted Ligand Homologous To Fjx1 2 3
  • Four-Jointed Protein Homolog 3 4
  • Four-Jointed Box Protein 1 3 4
  • Four Jointed Box 1 2 3
  • Four Jointed Box 1 (Drosophila) 2

External Ids for FJX1 Gene

Previous GeneCards Identifiers for FJX1 Gene

  • GC11P037192
  • GC11P036317
  • GC11P035678
  • GC11P035604
  • GC11P035596
  • GC11P035338

Summaries for FJX1 Gene

Entrez Gene Summary for FJX1 Gene

  • The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for FJX1 Gene

FJX1 (Four-Jointed Box Kinase 1) is a Protein Coding gene. Diseases associated with FJX1 include Cystic Kidney Disease.

UniProtKB/Swiss-Prot Summary for FJX1 Gene

Additional gene information for FJX1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FJX1 Gene

Genomics for FJX1 Gene

GeneHancer (GH) Regulatory Elements for FJX1 Gene

Promoters and enhancers for FJX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J035618 Enhancer 0.7 ENCODE dbSUPER 750.6 -1.5 -1479 0 ZBTB6 CTCF ZXDB OSR2 KLF8 FEZF1 PRDM6 GLIS1 FJX1 lnc-PAMR1-2
GH11J035616 Enhancer 0.7 ENCODE dbSUPER 750.6 -1.8 -1809 0.1 CTCF RAD21 PKNOX1 ARID2 REST TRIM22 SMC3 FJX1 lnc-PAMR1-2
GH11J035661 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 +45.3 45314 4.2 ZNF24 ZBTB40 RBPJ SMARCE1 POLR2A USF2 HDAC2 NR2F1 NR2F6 CREB1 TRIM44 TRAF6 ENSG00000251194 CD44-AS1 FJX1 piR-38351-070
GH11J035617 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.7 +2.9 2857 7.3 CTCF POLR2A HDAC2 L3MBTL2 ZNF121 MNT ZNF148 ZNF384 MAFK SP7 TRAF6 TRIM44 FJX1 PAMR1 ENSG00000254686
GH11J036384 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +770.9 770914 9.8 ZNF652 SP7 ZNF680 ZNF10 OSR2 RUNX3 IKZF1 FOS CTCF BATF PRR5L ENSG00000255060 COMMD9 FJX1 TRAF6 ENSG00000255186 lnc-RAG1-5 piR-36756-017
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FJX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FJX1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • POU6F1 (c2)

Genomic Locations for FJX1 Gene

Genomic Locations for FJX1 Gene
chr11:35,618,187-35,620,873
(GRCh38/hg38)
Size:
2,687 bases
Orientation:
Plus strand
chr11:35,639,735-35,642,421
(GRCh37/hg19)
Size:
2,687 bases
Orientation:
Plus strand

Genomic View for FJX1 Gene

Genes around FJX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FJX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FJX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FJX1 Gene

Proteins for FJX1 Gene

  • Protein details for FJX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VR8-FJX1_HUMAN
    Recommended name:
    Four-jointed box protein 1
    Protein Accession:
    Q86VR8
    Secondary Accessions:
    • B2RCA9
    • Q9UGK6

    Protein attributes for FJX1 Gene

    Size:
    437 amino acids
    Molecular mass:
    48507 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB53246.1; Type=Frameshift; Positions=436; Evidence={ECO:0000305};

neXtProt entry for FJX1 Gene

Post-translational modifications for FJX1 Gene

Other Protein References for FJX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FJX1 Gene

Domains & Families for FJX1 Gene

Gene Families for FJX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for FJX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FJX1 Gene

GenScript: Design optimal peptide antigens:
  • Four-jointed protein homolog (FJX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86VR8

UniProtKB/Swiss-Prot:

FJX1_HUMAN :
  • Belongs to the FJX1/FJ family.
Family:
  • Belongs to the FJX1/FJ family.
genes like me logo Genes that share domains with FJX1: view

Function for FJX1 Gene

Molecular function for FJX1 Gene

UniProtKB/Swiss-Prot Function:
Acts as an inhibitor of dendrite extension and branching.
GENATLAS Biochemistry:
putative secreted ligand,homolog to Drosophila four jointed box 1,and to murine Fjx1,coding for a putative secreted protein,expressed in restricted domains of the developing and adult brain

Phenotypes From GWAS Catalog for FJX1 Gene

genes like me logo Genes that share phenotypes with FJX1: view

Animal Models for FJX1 Gene

MGI Knock Outs for FJX1:
  • Fjx1 Fjx1<tm1.1(KOMP)Vlcg>
  • Fjx1 Fjx1<tm1Awp>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for FJX1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FJX1 Gene

Localization for FJX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FJX1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FJX1 gene
Compartment Confidence
extracellular 3
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FJX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA,IEA 21873635
genes like me logo Genes that share ontologies with FJX1: view

Pathways & Interactions for FJX1 Gene

PathCards logo

SuperPathways for FJX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FJX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling IBA 21873635
GO:0010842 retina layer formation IEA --
genes like me logo Genes that share ontologies with FJX1: view

No data available for Pathways by source and SIGNOR curated interactions for FJX1 Gene

Drugs & Compounds for FJX1 Gene

No Compound Related Data Available

Transcripts for FJX1 Gene

mRNA/cDNA for FJX1 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(47) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for FJX1

Alternative Splicing Database (ASD) splice patterns (SP) for FJX1 Gene

No ASD Table

Relevant External Links for FJX1 Gene

GeneLoc Exon Structure for
FJX1
ECgene alternative splicing isoforms for
FJX1

Expression for FJX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FJX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FJX1 Gene



Protein tissue co-expression partners for FJX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FJX1 Gene:

FJX1

SOURCE GeneReport for Unigene cluster for FJX1 Gene:

Hs.39384

Evidence on tissue expression from TISSUES for FJX1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with FJX1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FJX1 Gene

Orthologs for FJX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FJX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FJX1 33 32
  • 99.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FJX1 33 32
  • 91.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FJX1 33 32
  • 89.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fjx1 17 33 32
  • 88.23 (n)
rat
(Rattus norvegicus)
Mammalia Fjx1 32
  • 88.05 (n)
oppossum
(Monodelphis domestica)
Mammalia FJX1 33
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FJX1 33
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fjx1 32
  • 60.61 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100001423 32
  • 56.38 (n)
FJX1 33
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008093 32
  • 52.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta fj 33 32
  • 51.04 (n)
OneToOne
Species where no ortholog for FJX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FJX1 Gene

ENSEMBL:
Gene Tree for FJX1 (if available)
TreeFam:
Gene Tree for FJX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FJX1: view image

Paralogs for FJX1 Gene

No data available for Paralogs for FJX1 Gene

Variants for FJX1 Gene

Sequence variations from dbSNP and Humsavar for FJX1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000120545 -- 35,618,812(+) C/A coding_sequence_variant, missense_variant
rs1000472809 -- 35,618,960(+) G/A coding_sequence_variant, synonymous_variant
rs1000970506 -- 35,618,324(+) GGGGGG/GGGGGGG upstream_transcript_variant
rs1001022845 -- 35,618,151(+) C/T upstream_transcript_variant
rs1001233177 -- 35,618,747(+) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for FJX1 Gene

Variant ID Type Subtype PubMed ID
nsv1042014 CNV loss 25217958
nsv1070021 CNV deletion 25765185
nsv1070022 CNV deletion 25765185
nsv1118209 CNV deletion 24896259
nsv832121 CNV gain 17160897

Variation tolerance for FJX1 Gene

Gene Damage Index Score: 4.86; 67.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FJX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FJX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FJX1 Gene

Disorders for FJX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FJX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cystic kidney disease
  • renal cyst
- elite association - COSMIC cancer census association via MalaCards
Search FJX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FJX1

genes like me logo Genes that share disorders with FJX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FJX1 Gene

Publications for FJX1 Gene

  1. Fjx1, the murine homologue of the Drosophila four-jointed gene, codes for a putative secreted protein expressed in restricted domains of the developing and adult brain. (PMID: 10072791) Ashery-Padan R … Gruss P (Mechanisms of development 1999) 2 3 56
  2. A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1. (PMID: 10568747) Gawin B … Gessler M (Genome research 1999) 3 4 56
  3. CpG island clones for chromosome 11p--a resource for mapping and gene identification. (PMID: 7647465) Thäte C … Gessler M (Mammalian genome : official journal of the International Mammalian Genome Society 1995) 2 3 56
  4. Overexpression of Four Joint Box-1 Protein (FJX1) in Eutopic Endometrium From Women With Endometriosis. (PMID: 28673206) Chang HJ … Jeong JW (Reproductive sciences (Thousand Oaks, Calif.) 2018) 3 56
  5. FAT1 cadherin is multiply phosphorylated on its ectodomain but phosphorylation is not catalysed by the four-jointed homologue. (PMID: 25150169) Sadeqzadeh E … Thorne RF (FEBS letters 2014) 3 56

Products for FJX1 Gene

Sources for FJX1 Gene