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Protein

Tudor-interacting repair regulator protein

Gene

NUDT16L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Key regulator of TP53BP1 required to stabilize TP53BP1 and regulate its recruitment to chromatin (PubMed:28241136). In absence of DNA damage, interacts with the tandem Tudor-like domain of TP53BP1, masking the region that binds histone H4 dimethylated at 'Lys-20' (H4K20me2), thereby preventing TP53BP1 recruitment to chromatin and maintaining TP53BP1 localization to the nucleus (PubMed:28241136). Following DNA damage, ATM-induced phosphorylation of TP53BP1 and subsequent recruitment of RIF1 leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking the tandem Tudor-like domain and allowing recruitment of TP53BP1 to DNA double strand breaks (DSBs) (PubMed:28241136). Binds U8 snoRNA (PubMed:18820299).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei10Required for interaction with TP53BP11 Publication1

GO - Molecular functioni

  • hydrolase activity Source: InterPro
  • RNA binding Source: UniProtKB
  • snoRNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionRNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Tudor-interacting repair regulator protein1 Publication
Alternative name(s):
NUDT16-like protein 1Imported
Protein syndesmos1 Publication
Gene namesi
Name:NUDT16L1Imported
Synonyms:SDOSBy similarity, TIRR1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:28154. NUDT16L1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi10K → E: Abolishes interaction with TP53BP1. 1 Publication1
Mutagenesisi151K → E: Still able to interact with TP53BP1. 1 Publication1

Organism-specific databases

PharmGKBiPA134977238.

Polymorphism and mutation databases

BioMutaiNUDT16L1.
DMDMi68566060.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000976481 – 211Tudor-interacting repair regulator proteinAdd BLAST211

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki10Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki151Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9BRJ7.
MaxQBiQ9BRJ7.
PaxDbiQ9BRJ7.
PeptideAtlasiQ9BRJ7.
PRIDEiQ9BRJ7.

PTM databases

iPTMnetiQ9BRJ7.
PhosphoSitePlusiQ9BRJ7.

Expressioni

Gene expression databases

BgeeiENSG00000168101.
CleanExiHS_NUDT16L1.
ExpressionAtlasiQ9BRJ7. baseline and differential.
GenevisibleiQ9BRJ7. HS.

Organism-specific databases

HPAiHPA044186.
HPA063605.

Interactioni

Subunit structurei

Homodimer (PubMed:28241136). Interacts with TP53BP1 (via the Tudor-like domain); interaction is abolished following DNA damage and TP53BP1 phosphorylation by ATM (PubMed:28241136). Interacts (via the cytoplasmic part) with SDC4 (By similarity). Interacts with TGFB1I1 and PXN (By similarity).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124035. 22 interactors.
IntActiQ9BRJ7. 13 interactors.
MINTiMINT-5009616.
STRINGi9606.ENSP00000306670.

Structurei

Secondary structure

1211
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi14 – 17Combined sources4
Beta strandi25 – 40Combined sources16
Turni41 – 43Combined sources3
Beta strandi44 – 55Combined sources12
Beta strandi63 – 67Combined sources5
Turni69 – 71Combined sources3
Helixi74 – 80Combined sources7
Helixi93 – 95Combined sources3
Beta strandi96 – 101Combined sources6
Beta strandi108 – 116Combined sources9
Helixi119 – 130Combined sources12
Turni136 – 138Combined sources3
Beta strandi139 – 145Combined sources7
Helixi157 – 161Combined sources5
Helixi169 – 179Combined sources11
Helixi185 – 206Combined sources22

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3KVHX-ray1.70A6-211[»]
ProteinModelPortaliQ9BRJ7.
SMRiQ9BRJ7.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BRJ7.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni118 – 205Interaction with PXNBy similarityAdd BLAST88

Sequence similaritiesi

Belongs to the Nudix hydrolase family. TIRR subfamily.Curated

Phylogenomic databases

eggNOGiENOG410IYGP. Eukaryota.
ENOG4111QA1. LUCA.
GeneTreeiENSGT00390000016224.
HOGENOMiHOG000007083.
HOVERGENiHBG067297.
InParanoidiQ9BRJ7.
KOiK16867.
OMAiMMPSEKL.
OrthoDBiEOG091G0XY4.
PhylomeDBiQ9BRJ7.

Family and domain databases

InterProiView protein in InterPro
IPR015797. NUDIX_hydrolase_dom-like.
SUPFAMiSSF55811. SSF55811. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BRJ7-1) [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
MSTAAVPELK QISRVEAMRL GPGWSHSCHA MLYAANPGQL FGRIPMRFSV
60 70 80 90 100
LMQMRFDGLL GFPGGFVDRR FWSLEDGLNR VLGLGLGCLR LTEADYLSSH
110 120 130 140 150
LTEGPHRVVA HLYARQLTLE QLHAVEISAV HSRDHGLEVL GLVRVPLYTQ
160 170 180 190 200
KDRVGGFPNF LSNAFVSTAK CQLLFALKVL NMMPEEKLVE ALAAATEKQK
210
KALEKLLPAS S
Length:211
Mass (Da):23,338
Last modified:June 1, 2001 - v1
Checksum:iB20AA5AE1E7F7C8C
GO
Isoform 2 (identifier: Q9BRJ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-211: LGLVRVPLYT...ALEKLLPASS → GPPPGPRPPP...SGDCLGSWET

Note: No experimental confirmation available.
Show »
Length:247
Mass (Da):25,975
Checksum:iD69A7CCD02DC54C1
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014276140 – 211LGLVR…LPASS → GPPPGPRPPPRGLALAPWKA PMGNTSPEGPLAGLGRVSLS PAMGWGEGSGAGRPGKEGRG WGPALGLPQGCVTSALLPAI ANPGSGGVGSVGRKGWGRSG DCLGSWET in isoform 2. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092642 mRNA. Translation: BAC03933.1.
BC006223 mRNA. Translation: AAH06223.1.
CCDSiCCDS10519.1. [Q9BRJ7-1]
RefSeqiNP_115725.1. NM_032349.3. [Q9BRJ7-1]
UniGeneiHs.513315.

Genome annotation databases

EnsembliENST00000304301; ENSP00000306670; ENSG00000168101. [Q9BRJ7-1]
ENST00000405142; ENSP00000458144; ENSG00000168101. [Q9BRJ7-2]
GeneIDi84309.
KEGGihsa:84309.
UCSCiuc002cxe.4. human. [Q9BRJ7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiTIRR_HUMAN
AccessioniPrimary (citable) accession number: Q9BRJ7
Secondary accession number(s): Q8NAI2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: June 1, 2001
Last modified: June 7, 2017
This is version 118 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

Caution

Although strongly related to the nudix NUDT16 protein, lacks the Nudix box and is therefore not related to the rest of the family (PubMed:18820299, PubMed:21070968). Gene organization and evolutionary distribution suggest that syndesmos NUDT16L1 probably originated as a gene duplication event of the more ancient U8 snoRNA-decapping enzyme NUDT16 (PubMed:18820299). Although similar to U8 snoRNA-decapping enzyme NUDT16, lacks a number of residues which are necessary for hydrolase activity and does not play a role in U8 snoRNA decapping activity (PubMed:21070968).2 Publications

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families