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Protein

Zinc finger HIT domain-containing protein 3

Gene

ZNHIT3

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

Functioni

Caution

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri11 – 42HIT-typePROSITE-ProRule annotationAdd BLAST32

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • thyroid hormone receptor binding Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger HIT domain-containing protein 3
Alternative name(s):
HNF-4a coactivator
Thyroid hormone receptor interactor 3
Thyroid receptor-interacting protein 3
Short name:
TR-interacting protein 3
Short name:
TRIP-3
Gene namesi
Name:ZNHIT3
Synonyms:TRIP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000273611.4
HGNCiHGNC:12309 ZNHIT3
MIMi604500 gene
neXtProtiNX_Q15649

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

PEHO syndrome (PEHO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe mental retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death.
See also OMIM:260565
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07919331S → L in PEHO; increased protein degradation; decreased protein abundance; does not affect localization to cytoplasm and nucleus. 1 PublicationCorresponds to variant dbSNP:rs148890852Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi9326
MIMi260565 phenotype
OpenTargetsiENSG00000273611
PharmGKBiPA36987

Polymorphism and mutation databases

DMDMi46397898

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001735501 – 155Zinc finger HIT domain-containing protein 3Add BLAST155

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei80PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15649
MaxQBiQ15649
PaxDbiQ15649
PeptideAtlasiQ15649
PRIDEiQ15649

PTM databases

iPTMnetiQ15649
PhosphoSitePlusiQ15649

Expressioni

Gene expression databases

BgeeiENSG00000273611
CleanExiHS_ZNHIT3
ExpressionAtlasiQ15649 baseline and differential
GenevisibleiQ15649 HS

Organism-specific databases

HPAiHPA060019

Interactioni

Subunit structurei

Thyroid receptor interacting proteins (TRIPs) specifically interact with the ligand binding domain of the thyroid receptor (TR). Requires the presence of thyroid hormone for its interaction. Interacts with NUFIP1 (PubMed:28335020).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NUFIP1Q9UHK04EBI-2563564,EBI-2563549

GO - Molecular functioni

  • thyroid hormone receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi11473636 interactors.
IntActiQ15649 13 interactors.
STRINGi9606.ENSP00000225410

Structurei

Secondary structure

1155
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni12 – 14Combined sources3
Beta strandi19 – 21Combined sources3
Turni23 – 25Combined sources3
Beta strandi28 – 31Combined sources4
Helixi32 – 41Combined sources10
Helixi89 – 97Combined sources9
Helixi99 – 102Combined sources4
Turni103 – 106Combined sources4
Helixi108 – 119Combined sources12
Helixi123 – 129Combined sources7
Turni130 – 132Combined sources3
Helixi134 – 147Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQQNMR-A4-46[»]
5L85NMR-A85-155[»]
ProteinModelPortaliQ15649
SMRiQ15649
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15649

Family & Domainsi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri11 – 42HIT-typePROSITE-ProRule annotationAdd BLAST32

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG2857 Eukaryota
ENOG41123YY LUCA
GeneTreeiENSGT00390000010822
HOGENOMiHOG000230732
HOVERGENiHBG055775
InParanoidiQ15649
OMAiKCSAPYC
OrthoDBiEOG091G0VWN
PhylomeDBiQ15649
TreeFamiTF324673

Family and domain databases

InterProiView protein in InterPro
IPR007529 Znf_HIT
PfamiView protein in Pfam
PF04438 zf-HIT, 1 hit
PROSITEiView protein in PROSITE
PS51083 ZF_HIT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15649-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASLKCSTVV CVICLEKPKY RCPACRVPYC SVVCFRKHKE QCNPETRPVE
60 70 80 90 100
KKIRSALPTK TVKPVENKDD DDSIADFLNS DEEEDRVSLQ NLKNLGESAT
110 120 130 140 150
LRSLLLNPHL RQLMVNLDQG EDKAKLMRAY MQEPLFVEFA DCCLGIVEPS

QNEES
Length:155
Mass (Da):17,607
Last modified:April 13, 2004 - v2
Checksum:iA115FD0AA9321AB0
GO
Isoform 2 (identifier: Q15649-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-155: GESATLRSLL...IVEPSQNEES → DGLSSCHPGW...ATTPNQFLYF

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:148
Mass (Da):16,453
Checksum:iDBEB11E191297F8D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07919331S → L in PEHO; increased protein degradation; decreased protein abundance; does not affect localization to cytoplasm and nucleus. 1 PublicationCorresponds to variant dbSNP:rs148890852Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05515596 – 155GESAT…QNEES → DGLSSCHPGWSAAAQSRLTA TSPSQIQAILMPQPPEQLGL QAPATTPNQFLYF in isoform 2. CuratedAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF400652 mRNA Translation: AAM82423.1
AK290858 mRNA Translation: BAF83547.1
AC126327 Genomic DNA No translation available.
CH471199 Genomic DNA Translation: EAW57552.1
BC017931 mRNA Translation: AAH17931.1
L40410 mRNA Translation: AAC41737.1
CCDSiCCDS11312.1 [Q15649-1]
CCDS62156.1 [Q15649-2]
RefSeqiNP_001268361.1, NM_001281432.1 [Q15649-2]
NP_001268362.1, NM_001281433.1
NP_001268363.1, NM_001281434.1
NP_004764.1, NM_004773.3 [Q15649-1]
UniGeneiHs.2210

Genome annotation databases

EnsembliENST00000617429; ENSP00000484687; ENSG00000273611 [Q15649-1]
ENST00000619649; ENSP00000478183; ENSG00000278574 [Q15649-2]
ENST00000620324; ENSP00000479727; ENSG00000273611 [Q15649-2]
ENST00000620508; ENSP00000481504; ENSG00000278574 [Q15649-1]
GeneIDi9326
KEGGihsa:9326
UCSCiuc002hms.3 human [Q15649-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiZNHI3_HUMAN
AccessioniPrimary (citable) accession number: Q15649
Secondary accession number(s): A8K493, K7EQP1, Q8WVJ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 13, 2004
Last modified: April 25, 2018
This is version 140 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome