UniProtKB - Q96DX7 (TRI44_HUMAN)
(max 400 entries)x
Your basket is currently empty. i
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
Protein
Tripartite motif-containing protein 44
Gene
TRIM44
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 174 – 215 | B box-typePROSITE-ProRule annotationAdd BLAST | 42 |
GO - Molecular functioni
- zinc ion binding Source: InterPro
GO - Biological processi
- negative regulation of protein K48-linked ubiquitination Source: BHF-UCL
- positive regulation of cytokine-mediated signaling pathway Source: BHF-UCL
- positive regulation of defense response to virus by host Source: BHF-UCL
- positive regulation of NIK/NF-kappaB signaling Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: BHF-UCL
- protein stabilization Source: BHF-UCL
- regulation of gene expression Source: UniProtKB
Keywordsi
Ligand | Metal-binding, Zinc |
Names & Taxonomyi
Protein namesi | Recommended name: Tripartite motif-containing protein 44Alternative name(s): Protein DIPB |
Gene namesi | Name:TRIM44 Synonyms:DIPB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000166326.6. |
HGNCi | HGNC:19016. TRIM44. |
MIMi | 612298. gene. |
neXtProti | NX_Q96DX7. |
Subcellular locationi
Pathology & Biotechi
Involvement in diseasei
Aniridia 3 (AN3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617142Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077853 | 155 | G → R in AN3; affects function and results in increased negative regulation of PAX6 expression compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs886039241Ensembl. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 54765. |
MalaCardsi | TRIM44. |
MIMi | 617142. phenotype. |
OpenTargetsi | ENSG00000166326. |
PharmGKBi | PA134906584. |
Polymorphism and mutation databases
BioMutai | TRIM44. |
DMDMi | 56404940. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000220372 | 1 – 344 | Tripartite motif-containing protein 44Add BLAST | 344 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 336 | PhosphoserineBy similarity | 1 | |
Modified residuei | 339 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96DX7. |
MaxQBi | Q96DX7. |
PaxDbi | Q96DX7. |
PeptideAtlasi | Q96DX7. |
PRIDEi | Q96DX7. |
PTM databases
iPTMneti | Q96DX7. |
PhosphoSitePlusi | Q96DX7. |
Expressioni
Tissue specificityi
Highly expressed in testis.1 Publication
Gene expression databases
Bgeei | ENSG00000166326. |
CleanExi | HS_TRIM44. |
Genevisiblei | Q96DX7. HS. |
Organism-specific databases
HPAi | HPA049053. HPA057633. |
Interactioni
Subunit structurei
Interacts (via coiled coil) with TRIM17 (via coiled coil).1 Publication
Binary interactionsi
Protein-protein interaction databases
BioGridi | 120140. 54 interactors. |
IntActi | Q96DX7. 6 interactors. |
STRINGi | 9606.ENSP00000299413. |
Structurei
3D structure databases
ProteinModelPortali | Q96DX7. |
SMRi | Q96DX7. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 290 – 325 | Sequence analysisAdd BLAST | 36 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 74 – 172 | Glu-richAdd BLAST | 99 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 174 – 215 | B box-typePROSITE-ProRule annotationAdd BLAST | 42 |
Keywords - Domaini
Coiled coil, Zinc-fingerPhylogenomic databases
eggNOGi | ENOG410IPQC. Eukaryota. ENOG4111H1M. LUCA. |
GeneTreei | ENSGT00440000034605. |
HOGENOMi | HOG000134694. |
HOVERGENi | HBG057191. |
InParanoidi | Q96DX7. |
KOi | K12020. |
OMAi | YVHGAQA. |
OrthoDBi | EOG091G0OGW. |
PhylomeDBi | Q96DX7. |
TreeFami | TF333911. |
Family and domain databases
CDDi | cd00021. BBOX. 1 hit. |
InterProi | View protein in InterPro IPR000315. Znf_B-box. |
Pfami | View protein in Pfam PF00643. zf-B_box. 1 hit. |
SMARTi | View protein in SMART SM00336. BBOX. 1 hit. |
PROSITEi | View protein in PROSITE PS50119. ZF_BBOX. 1 hit. |
i Sequence
Sequence statusi: Complete.
Q96DX7-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MASGVGAAFE ELPHDGTCDE CEPDEAPGAE EVCRECGFCY CRRHAEAHRQ
60 70 80 90 100
KFLSHHLAEY VHGSQAWTPP ADGEGAGKEE AEVKVEQERE IESEAGEESE
110 120 130 140 150
SEEESESEEE SETEEESEDE SDEESEEDSE EEMEDEQESE AEEDNQEEGE
160 170 180 190 200
SEAEGETEAE SEFDPEIEME AERVAKRKCP DHGLDLSTYC QEDRQLICVL
210 220 230 240 250
CPVIGAHQGH QLSTLDEAFE ELRSKDSGGL KAAMIELVER LKFKSSDPKV
260 270 280 290 300
TRDQMKMFIQ QEFKKVQKVI ADEEQKALHL VDIQEAMATA HVTEILADIQ
310 320 330 340
SHMDRLMTQM AQAKEQLDTS NESAEPKAEG DEEGPSGASE EEDT
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 41 | C → S in CAB65108 (Ref. 1) Curated | 1 | |
Sequence conflicti | 232 | A → G in CAB65108 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077852 | 64 | S → Y Polymorphism; does not affect function in negative regulation of PAX6 expression. 1 PublicationCorresponds to variant dbSNP:rs377117775Ensembl. | 1 | |
Natural variantiVAR_077853 | 155 | G → R in AN3; affects function and results in increased negative regulation of PAX6 expression compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs886039241Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ249128 mRNA. Translation: CAB65108.1. AL138812 Genomic DNA. No translation available. CH471064 Genomic DNA. Translation: EAW68133.1. CH471064 Genomic DNA. Translation: EAW68134.1. BC013166 mRNA. Translation: AAH13166.1. BC024031 mRNA. Translation: AAH24031.1. |
CCDSi | CCDS31461.1. |
RefSeqi | NP_060053.2. NM_017583.5. |
UniGenei | Hs.192103. Hs.715570. |
Genome annotation databases
Ensembli | ENST00000299413; ENSP00000299413; ENSG00000166326. |
GeneIDi | 54765. |
KEGGi | hsa:54765. |
UCSCi | uc001mwi.3. human. |
Similar proteinsi
Entry informationi
Entry namei | TRI44_HUMAN | |
Accessioni | Q96DX7Primary (citable) accession number: Q96DX7 Secondary accession number(s): D3DR14, Q96QY2, Q9UGK0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 7, 2004 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 28, 2018 | |
This is version 120 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |