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Aliases for TRIM44 Gene

Aliases for TRIM44 Gene

  • Tripartite Motif Containing 44 2 3 5
  • DIPB 3 4
  • Tripartite Motif-Containing Protein 44 3
  • Tripartite Motif-Containing 44 2
  • Protein DIPB 4
  • HSA249128 3
  • AN3 3
  • MC7 3

External Ids for TRIM44 Gene

Previous GeneCards Identifiers for TRIM44 Gene

  • GC11P036362
  • GC11P035723
  • GC11P035648
  • GC11P035640
  • GC11P035382

Summaries for TRIM44 Gene

Entrez Gene Summary for TRIM44 Gene

  • This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

GeneCards Summary for TRIM44 Gene

TRIM44 (Tripartite Motif Containing 44) is a Protein Coding gene. Diseases associated with TRIM44 include Aniridia 3 and Isolated Aniridia.

UniProtKB/Swiss-Prot for TRIM44 Gene

  • May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRIM44 Gene

Genomics for TRIM44 Gene

Regulatory Elements for TRIM44 Gene

Enhancers for TRIM44 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
GH11G035617 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -41.6 -41648 7.3 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 GATA2 FOS SP3 REST TRIM44 COMMD9 FJX1 PAMR1 ENSG00000254686
GH11G035629 1.4 Ensembl ENCODE dbSUPER 11.4 -32.5 -32513 1.8 INSM2 SIN3A KLF17 FEZF1 BRCA1 ZNF2 ZEB1 RFX5 GATA2 ZNF366 TRIM44 FJX1 ENSG00000254686
GH11G035579 1.5 Ensembl ENCODE dbSUPER 9.5 -80.5 -80466 5.6 ATF1 ARNT ZNF766 ELK1 FOS CREB3 MAFF SMARCA4 STAT3 NBN PAMR1 TRIM44 GC11P035579 ENSG00000254669
GH11G036108 1.4 Ensembl ENCODE dbSUPER 9.5 +447.8 447816 4.2 FEZF1 RAD21 ZNF143 FOS ETV6 CREM ZNF654 CBFB JUNB REST LDLRAD3 TRIM44 PRR5L PIR54286 LOC101928510
GH11G035641 1.1 ENCODE 11.7 -21.1 -21102 0.7 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 ENSG00000251194 CD44-AS1 TRIM44 COMMD9 ENSG00000254686 FJX1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRIM44 on UCSC Golden Path with GeneCards custom track

Promoters for TRIM44 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000038932 -192 1401 PKNOX1 FOXA2 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143

Genomic Location for TRIM44 Gene

Chromosome:
11
Start:
35,662,692 bp from pter
End:
35,818,007 bp from pter
Size:
155,316 bases
Orientation:
Plus strand

Genomic View for TRIM44 Gene

Genes around TRIM44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIM44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIM44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIM44 Gene

Proteins for TRIM44 Gene

  • Protein details for TRIM44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DX7-TRI44_HUMAN
    Recommended name:
    Tripartite motif-containing protein 44
    Protein Accession:
    Q96DX7
    Secondary Accessions:
    • D3DR14
    • Q96QY2
    • Q9UGK0

    Protein attributes for TRIM44 Gene

    Size:
    344 amino acids
    Molecular mass:
    38472 Da
    Quaternary structure:
    • Interacts (via coiled coil) with TRIM17 (via coiled coil).

neXtProt entry for TRIM44 Gene

Post-translational modifications for TRIM44 Gene

  • Ubiquitination at Lys231, isoforms=256, isoforms=268, and isoforms=314
  • Modification sites at PhosphoSitePlus

Other Protein References for TRIM44 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TRIM44 Gene

Domains & Families for TRIM44 Gene

Gene Families for TRIM44 Gene

Protein Domains for TRIM44 Gene

Suggested Antigen Peptide Sequences for TRIM44 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TRIM44: view

No data available for UniProtKB/Swiss-Prot for TRIM44 Gene

Function for TRIM44 Gene

Molecular function for TRIM44 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807).

Gene Ontology (GO) - Molecular Function for TRIM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17577209
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRIM44: view
genes like me logo Genes that share phenotypes with TRIM44: view

Human Phenotype Ontology for TRIM44 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TRIM44 Gene

miRTarBase miRNAs that target TRIM44

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TRIM44 Gene

Localization for TRIM44 Gene

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 TRIM44 gene
Compartment Confidence
nucleus 3
plasma membrane 2
cytosol 2
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TRIM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with TRIM44: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TRIM44 Gene

Pathways & Interactions for TRIM44 Gene

SuperPathways for TRIM44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRIM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010468 regulation of gene expression IMP 26394807
genes like me logo Genes that share ontologies with TRIM44: view

No data available for Pathways by source and SIGNOR curated interactions for TRIM44 Gene

Transcripts for TRIM44 Gene

mRNA/cDNA for TRIM44 Gene

Unigene Clusters for TRIM44 Gene

Tripartite motif containing 44:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRIM44 Gene

No ASD Table

Relevant External Links for TRIM44 Gene

GeneLoc Exon Structure for
TRIM44
ECgene alternative splicing isoforms for
TRIM44

Expression for TRIM44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRIM44 Gene

Protein differential expression in normal tissues from HIPED for TRIM44 Gene

This gene is overexpressed in Stomach (33.8) and Adrenal (27.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRIM44 Gene



NURSA nuclear receptor signaling pathways regulating expression of TRIM44 Gene:

TRIM44

SOURCE GeneReport for Unigene cluster for TRIM44 Gene:

Hs.192103

mRNA Expression by UniProt/SwissProt for TRIM44 Gene:

Q96DX7-TRI44_HUMAN
Tissue specificity: Highly expressed in testis.

Evidence on tissue expression from TISSUES for TRIM44 Gene

  • Nervous system(4.8)
  • Muscle(4.3)
  • Skin(4.2)
  • Kidney(2.1)
  • Lymph node(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with TRIM44: 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 tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIM44 Gene

Orthologs for TRIM44 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TRIM44 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRIM44 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia TRIM44 34 35
  • 89.22 (n)
mouse
(Mus musculus)
Mammalia Trim44 34 16 35
  • 86.39 (n)
dog
(Canis familiaris)
Mammalia TRIM44 34 35
  • 82.78 (n)
rat
(Rattus norvegicus)
Mammalia Trim44 34
  • 81.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRIM44 35
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRIM44 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRIM44 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trim44 34
  • 59.51 (n)
zebrafish
(Danio rerio)
Actinopterygii trim44 34 35
  • 53.7 (n)
Species where no ortholog for TRIM44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TRIM44 Gene

ENSEMBL:
Gene Tree for TRIM44 (if available)
TreeFam:
Gene Tree for TRIM44 (if available)

Paralogs for TRIM44 Gene

No data available for Paralogs for TRIM44 Gene

Variants for TRIM44 Gene

Sequence variations from dbSNP and Humsavar for TRIM44 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_077853 Aniridia 3 (AN3) [MIM:617142]
rs886039241 Pathogenic 35,663,574(+) CGGAG(A/G)GAGAA reference, missense
rs1000032206 -- 35,701,103(+) CTAAT(A/G)TAATA intron-variant
rs1000046041 -- 35,741,736(+) GAGCT(C/T)TATTC intron-variant
rs1000049481 -- 35,762,772(+) GCTTT(A/G)CCACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRIM44 Gene

Variant ID Type Subtype PubMed ID
esv3625936 CNV loss 21293372
esv3625937 CNV loss 21293372
esv3625939 CNV gain 21293372
nsv1042014 CNV loss 25217958
nsv832121 CNV gain 17160897

Variation tolerance for TRIM44 Gene

Residual Variation Intolerance Score: 23.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRIM44 Gene

Human Gene Mutation Database (HGMD)
TRIM44
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIM44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIM44 Gene

Disorders for TRIM44 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TRIM44 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aniridia 3
  • an3
isolated aniridia
aniridia
  • cataract with late-onset corneal dystrophy
iris hypoplasia
optic nerve hypoplasia
  • optic nerve hypoplasia, bilateral optic nerve aplasia, bilateral, included
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TRI44_HUMAN
  • Aniridia 3 (AN3) [MIM:617142]: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:26394807}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRIM44

Genetic Association Database (GAD)
TRIM44
Human Genome Epidemiology (HuGE) Navigator
TRIM44
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRIM44
genes like me logo Genes that share disorders with TRIM44: view

No data available for Genatlas for TRIM44 Gene

Publications for TRIM44 Gene

  1. Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. (PMID: 26394807) Zhang X. … Yu L. (Hum. Mutat. 2015) 3 4 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. Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K. … van den Oord E.J. (Biol. Psychiatry 2010) 3 46 64
  4. TRIM44 interacts with and stabilizes terf, a TRIM ubiquitin E3 ligase. (PMID: 19358823) Urano T. … Inoue S. (Biochem. Biophys. Res. Commun. 2009) 3 4 64
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4 64

Products for TRIM44 Gene

Sources for TRIM44 Gene

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