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Protein

Tripartite motif-containing protein 44

Gene

TRIM44

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

  • regulation of gene expression Source: UniProtKB

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.

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 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54765.
MalaCardsiTRIM44.
MIMi617142. phenotype.
OpenTargetsiENSG00000166326.
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.

PTM databases

iPTMnetiQ96DX7.
PhosphoSitePlusiQ96DX7.

Expressioni

Tissue specificityi

Highly expressed in testis.1 Publication

Gene expression databases

BgeeiENSG00000166326.
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

Show more details

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.
Gene3Di3.30.40.10. 1 hit.
InterProiView protein in InterPro
IPR000315. Znf_B-box.
IPR013083. Znf_RING/FYVE/PHD.
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 Publication1

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

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: October 25, 2017
This is version 117 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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot