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Aliases for TULP4 Gene

Aliases for TULP4 Gene

  • Tubby Like Protein 4 2 3 5
  • Tubby Superfamily Protein 3 4
  • TUSP 3 4
  • Tubby Super-Family Protein 3
  • Tubby-Related Protein 4 3
  • Tubby-Like Protein 4 4
  • KIAA1397 4
  • TUBL4 4

External Ids for TULP4 Gene

Previous GeneCards Identifiers for TULP4 Gene

  • GC06P158567
  • GC06P158642
  • GC06P158704
  • GC06P158653
  • GC06P158733
  • GC06P156205

Summaries for TULP4 Gene

GeneCards Summary for TULP4 Gene

TULP4 (Tubby Like Protein 4) is a Protein Coding gene. Diseases associated with TULP4 include Diabetes Mellitus, Insulin-Dependent, 5 and Cranioectodermal Dysplasia 1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is WDR35.

UniProtKB/Swiss-Prot for TULP4 Gene

  • May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TULP4 Gene

Genomics for TULP4 Gene

Regulatory Elements for TULP4 Gene

Enhancers for TULP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G158283 1.4 Ensembl ENCODE 28.9 +53.4 53362 4.9 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 SLC30A9 TULP4 ENSG00000238019 ENSG00000274023
GH06G158289 1.1 Ensembl ENCODE 25.1 +58.4 58447 1.9 PKNOX1 BMI1 ZBTB40 ZNF121 ZNF766 CBX5 ETV6 CAVIN1 CBFB TBX21 TULP4 ENSG00000238019 ENSG00000274023
GH06G158230 1.1 ENCODE 23 +0.3 278 3.1 HDGF PKNOX1 ARNT MLX AGO1 SIN3A ARID4B DMAP1 ZNF2 YY1 TULP4 LOC100420839 ENSG00000238019 SYTL3 DYNLT1 SYNJ2 GC06M158238
GH06G158375 1.2 Ensembl ENCODE 18.6 +145.2 145223 4.0 FOXA2 PKNOX1 ARID4B SIN3A FEZF1 YY1 GLIS2 GATA2 SP5 MXD4 TULP4 ENSG00000238019 ENSG00000274023
GH06G158337 0.9 ENCODE 22.5 +107.3 107253 3.1 FOXA2 MLX RARA EGR1 CREM MIXL1 EGR2 THAP11 SMARCA5 PAF1 TULP4 ENSG00000238019 ENSG00000274023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TULP4 on UCSC Golden Path with GeneCards custom track

Promoters for TULP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000206056 64 2201 HDGF PKNOX1 ARNT AGO1 SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for TULP4 Gene

Chromosome:
6
Start:
158,232,236 bp from pter
End:
158,511,828 bp from pter
Size:
279,593 bases
Orientation:
Plus strand

Genomic View for TULP4 Gene

Genes around TULP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TULP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TULP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TULP4 Gene

Proteins for TULP4 Gene

  • Protein details for TULP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRJ4-TULP4_HUMAN
    Recommended name:
    Tubby-related protein 4
    Protein Accession:
    Q9NRJ4
    Secondary Accessions:
    • Q5T3M2
    • Q5T3M3
    • Q9HD22
    • Q9P2F0

    Protein attributes for TULP4 Gene

    Size:
    1543 amino acids
    Molecular mass:
    169000 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF87975.1; Type=Frameshift; Positions=740, 744; Evidence={ECO:0000305}; Sequence=BAA92635.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TULP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TULP4 Gene

Post-translational modifications for TULP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TULP4 Gene

Domains & Families for TULP4 Gene

Gene Families for TULP4 Gene

Suggested Antigen Peptide Sequences for TULP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRJ4

UniProtKB/Swiss-Prot:

TULP4_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
  • Belongs to the TUB family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Family:
  • Belongs to the TUB family.
genes like me logo Genes that share domains with TULP4: view

Function for TULP4 Gene

Molecular function for TULP4 Gene

UniProtKB/Swiss-Prot Function:
May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Ontology (GO) - Molecular Function for TULP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with TULP4: view
genes like me logo Genes that share phenotypes with TULP4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TULP4 Gene

Localization for TULP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TULP4 Gene

Cytoplasm.

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 TULP4 gene
Compartment Confidence
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for TULP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA 11595174
GO:0005829 cytosol TAS --
GO:0005929 cilium IBA --
genes like me logo Genes that share ontologies with TULP4: view

Pathways & Interactions for TULP4 Gene

SuperPathways for TULP4 Gene

No Data Available

UniProtKB/Swiss-Prot Q9NRJ4-TULP4_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for TULP4 Gene

Gene Ontology (GO) - Biological Process for TULP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS --
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
GO:0061512 protein localization to cilium IBA --
genes like me logo Genes that share ontologies with TULP4: view

No data available for Pathways by source and SIGNOR curated interactions for TULP4 Gene

Drugs & Compounds for TULP4 Gene

No Compound Related Data Available

Transcripts for TULP4 Gene

Unigene Clusters for TULP4 Gene

Tubby like protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TULP4 Gene

No ASD Table

Relevant External Links for TULP4 Gene

GeneLoc Exon Structure for
TULP4
ECgene alternative splicing isoforms for
TULP4

Expression for TULP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TULP4 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TULP4 Gene



Protein tissue co-expression partners for TULP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TULP4 Gene:

TULP4

SOURCE GeneReport for Unigene cluster for TULP4 Gene:

Hs.486993

mRNA Expression by UniProt/SwissProt for TULP4 Gene:

Q9NRJ4-TULP4_HUMAN
Tissue specificity: Expressed mainly in the brain, skeletal muscle, testis and kidney.

Evidence on tissue expression from TISSUES for TULP4 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with TULP4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TULP4 Gene

Orthologs for TULP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TULP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TULP4 34 35
  • 99.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TULP4 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TULP4 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TULP4 34 35
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Tulp4 34
  • 87.7 (n)
mouse
(Mus musculus)
Mammalia Tulp4 34 16 35
  • 87.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TULP4 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TULP4 34 35
  • 77.97 (n)
lizard
(Anolis carolinensis)
Reptilia TULP4 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tulp4 34
  • 71.85 (n)
Str.12982 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18225 34
zebrafish
(Danio rerio)
Actinopterygii tulp4a 34 35
  • 68.86 (n)
tulp4b 35
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Tusp 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tub-2 35
  • 35 (a)
OneToOne
Species where no ortholog for TULP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • 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)

Evolution for TULP4 Gene

ENSEMBL:
Gene Tree for TULP4 (if available)
TreeFam:
Gene Tree for TULP4 (if available)

Paralogs for TULP4 Gene

Paralogs for TULP4 Gene

genes like me logo Genes that share paralogs with TULP4: view

Variants for TULP4 Gene

Sequence variations from dbSNP and Humsavar for TULP4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000001719 -- 158,292,667(+) ATCAA(C/T)GTTTA intron-variant
rs1000002267 -- 158,230,668(+) CAGGC(C/T)GGAGT upstream-variant-2KB
rs1000004803 -- 158,461,424(+) AAAAA(A/G)AAGGA intron-variant
rs1000040495 -- 158,329,922(+) GATCA(A/G)TATCT intron-variant
rs1000041505 -- 158,396,225(+) TTCCT(C/T)TCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TULP4 Gene

Variant ID Type Subtype PubMed ID
dgv1027e201 CNV deletion 23290073
dgv1072n67 CNV gain 20364138
esv2116186 CNV deletion 18987734
esv2235507 CNV deletion 18987734
esv2390619 CNV deletion 18987734
esv2605411 CNV deletion 19546169
esv2658826 CNV deletion 23128226
esv2732994 CNV deletion 23290073
esv2732996 CNV deletion 23290073
esv2732997 CNV deletion 23290073
esv2759482 CNV gain+loss 17122850
esv3305349 CNV mobile element insertion 20981092
esv3399270 CNV insertion 20981092
esv3540740 CNV deletion 23714750
esv3611396 CNV loss 21293372
esv4303 CNV loss 18987735
esv5051 CNV loss 18987735
nsv1028592 CNV loss 25217958
nsv1118004 CNV deletion 24896259
nsv1124138 CNV deletion 24896259
nsv1124139 CNV deletion 24896259
nsv1137169 CNV deletion 24896259
nsv1137170 CNV deletion 24896259
nsv1140719 CNV deletion 24896259
nsv349862 CNV deletion 16902084
nsv5560 CNV insertion 18451855
nsv5561 CNV insertion 18451855
nsv957540 CNV deletion 24416366

Variation tolerance for TULP4 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.89; 67.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TULP4 Gene

Human Gene Mutation Database (HGMD)
TULP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TULP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TULP4 Gene

Disorders for TULP4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TULP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 5
  • type 1 diabetes mellitus 5
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TULP4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TULP4

Genetic Association Database (GAD)
TULP4
Human Genome Epidemiology (HuGE) Navigator
TULP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TULP4
genes like me logo Genes that share disorders with TULP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TULP4 Gene

Publications for TULP4 Gene

  1. Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily. (PMID: 11595174) Li Q.-Z. … She J.-X. (Gene 2001) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 64

Products for TULP4 Gene

Sources for TULP4 Gene

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