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Protein

Tripartite motif-containing protein 44

Gene

TRIM44

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri174 – 215B box-typePROSITE-ProRule annotationAdd BLAST42

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Tripartite motif-containing protein 44
Alternative name(s):
Protein DIPB
Gene namesi
Name:TRIM44
Synonyms:DIPB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000166326.6
HGNCiHGNC:19016 TRIM44
MIMi612298 gene
neXtProtiNX_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:617142
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077853155G → R in AN3; affects function and results in increased negative regulation of PAX6 expression compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs886039241EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54765
MalaCardsiTRIM44
MIMi617142 phenotype
OpenTargetsiENSG00000166326
Orphaneti250923 Isolated aniridia
PharmGKBiPA134906584

Polymorphism and mutation databases

BioMutaiTRIM44
DMDMi56404940

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002203721 – 344Tripartite motif-containing protein 44Add BLAST344

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei336PhosphoserineBy similarity1
Modified residuei339PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96DX7
MaxQBiQ96DX7
PaxDbiQ96DX7
PeptideAtlasiQ96DX7
PRIDEiQ96DX7
ProteomicsDBi76337

PTM databases

iPTMnetiQ96DX7
PhosphoSitePlusiQ96DX7

Expressioni

Tissue specificityi

Highly expressed in testis.1 Publication

Gene expression databases

BgeeiENSG00000166326 Expressed in 246 organ(s), highest expression level in cerebellum
CleanExiHS_TRIM44
GenevisibleiQ96DX7 HS

Organism-specific databases

HPAiHPA049053
HPA057633

Interactioni

Subunit structurei

Interacts (via coiled coil) with TRIM17 (via coiled coil).1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi120140, 54 interactors
IntActiQ96DX7, 6 interactors
STRINGi9606.ENSP00000299413

Structurei

3D structure databases

ProteinModelPortaliQ96DX7
SMRiQ96DX7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili290 – 325Sequence analysisAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi74 – 172Glu-richAdd BLAST99

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri174 – 215B box-typePROSITE-ProRule annotationAdd BLAST42

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IPQC Eukaryota
ENOG4111H1M LUCA
GeneTreeiENSGT00440000034605
HOGENOMiHOG000134694
HOVERGENiHBG057191
InParanoidiQ96DX7
KOiK12020
OMAiYVHGAQA
OrthoDBiEOG091G0OGW
PhylomeDBiQ96DX7
TreeFamiTF333911

Family and domain databases

CDDicd00021 BBOX, 1 hit
InterProiView protein in InterPro
IPR000315 Znf_B-box
PfamiView protein in Pfam
PF00643 zf-B_box, 1 hit
SMARTiView protein in SMART
SM00336 BBOX, 1 hit
PROSITEiView protein in PROSITE
PS50119 ZF_BBOX, 1 hit

Sequencei

Sequence statusi: Complete.

Q96DX7-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:344
Mass (Da):38,472
Last modified:December 1, 2001 - v1
Checksum:i5DC26DD73C347AF1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti41C → S in CAB65108 (Ref. 1) Curated1
Sequence conflicti232A → G in CAB65108 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07785264S → Y Polymorphism; does not affect function in negative regulation of PAX6 expression. 1 PublicationCorresponds to variant dbSNP:rs377117775Ensembl.1
Natural variantiVAR_077853155G → R in AN3; affects function and results in increased negative regulation of PAX6 expression compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs886039241EnsemblClinVar.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
CCDSiCCDS31461.1
RefSeqiNP_060053.2, NM_017583.5
UniGeneiHs.192103
Hs.715570

Genome annotation databases

EnsembliENST00000299413; ENSP00000299413; ENSG00000166326
GeneIDi54765
KEGGihsa:54765
UCSCiuc001mwi.3 human

Similar proteinsi

Cross-referencesi

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
CCDSiCCDS31461.1
RefSeqiNP_060053.2, NM_017583.5
UniGeneiHs.192103
Hs.715570

3D structure databases

ProteinModelPortaliQ96DX7
SMRiQ96DX7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120140, 54 interactors
IntActiQ96DX7, 6 interactors
STRINGi9606.ENSP00000299413

PTM databases

iPTMnetiQ96DX7
PhosphoSitePlusiQ96DX7

Polymorphism and mutation databases

BioMutaiTRIM44
DMDMi56404940

Proteomic databases

EPDiQ96DX7
MaxQBiQ96DX7
PaxDbiQ96DX7
PeptideAtlasiQ96DX7
PRIDEiQ96DX7
ProteomicsDBi76337

Protocols and materials databases

DNASUi54765
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299413; ENSP00000299413; ENSG00000166326
GeneIDi54765
KEGGihsa:54765
UCSCiuc001mwi.3 human

Organism-specific databases

CTDi54765
DisGeNETi54765
EuPathDBiHostDB:ENSG00000166326.6
GeneCardsiTRIM44
HGNCiHGNC:19016 TRIM44
HPAiHPA049053
HPA057633
MalaCardsiTRIM44
MIMi612298 gene
617142 phenotype
neXtProtiNX_Q96DX7
OpenTargetsiENSG00000166326
Orphaneti250923 Isolated aniridia
PharmGKBiPA134906584
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPQC Eukaryota
ENOG4111H1M LUCA
GeneTreeiENSGT00440000034605
HOGENOMiHOG000134694
HOVERGENiHBG057191
InParanoidiQ96DX7
KOiK12020
OMAiYVHGAQA
OrthoDBiEOG091G0OGW
PhylomeDBiQ96DX7
TreeFamiTF333911

Miscellaneous databases

ChiTaRSiTRIM44 human
GenomeRNAii54765
PROiPR:Q96DX7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166326 Expressed in 246 organ(s), highest expression level in cerebellum
CleanExiHS_TRIM44
GenevisibleiQ96DX7 HS

Family and domain databases

CDDicd00021 BBOX, 1 hit
InterProiView protein in InterPro
IPR000315 Znf_B-box
PfamiView protein in Pfam
PF00643 zf-B_box, 1 hit
SMARTiView protein in SMART
SM00336 BBOX, 1 hit
PROSITEiView protein in PROSITE
PS50119 ZF_BBOX, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTRI44_HUMAN
AccessioniPrimary (citable) accession number: Q96DX7
Secondary accession number(s): D3DR14, Q96QY2, Q9UGK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 123 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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