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Protein

Telomeric repeat-binding factor 2-interacting protein 1

Gene

TERF2IP

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

Functioni

Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes.2 Publications

Miscellaneous

Shares a bidirectional promoter with KARS.1 Publication

Caution

Was reported to participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair in the absence of TERF2 (PubMed:19763083). However, this probably does not corresponds to its primary function and experiments in mouse showed that it is dispensible for such process and is required for repressiion of homology-directed repair (HDR).1 Publication

GO - Molecular functioni

  • G-rich strand telomeric DNA binding Source: BHF-UCL
  • phosphatase binding Source: CAFA
  • telomeric DNA binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence

Names & Taxonomyi

Protein namesi
Recommended name:
Telomeric repeat-binding factor 2-interacting protein 1
Short name:
TERF2-interacting telomeric protein 1
Short name:
TRF2-interacting telomeric protein 1
Alternative name(s):
Dopamine receptor-interacting protein 5
Repressor/activator protein 1 homolog
Short name:
RAP1 homolog
Short name:
hRap1
Gene namesi
Name:TERF2IP
Synonyms:DRIP5, RAP1
ORF Names:PP8000
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000166848.5
HGNCiHGNC:19246 TERF2IP
MIMi605061 gene
neXtProtiNX_Q9NYB0

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

Chromosome, Cytoplasm, Nucleus, Telomere

Pathology & Biotechi

Organism-specific databases

DisGeNETi54386
MalaCardsiTERF2IP
OpenTargetsiENSG00000166848
PharmGKBiPA134976325

Chemistry databases

ChEMBLiCHEMBL3751647

Polymorphism and mutation databases

BioMutaiTERF2IP
DMDMi21542267

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001971262 – 399Telomeric repeat-binding factor 2-interacting protein 1Add BLAST398

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei36PhosphoserineCombined sources1
Modified residuei43PhosphoserineCombined sources1
Cross-linki114Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei154PhosphoserineCombined sources1
Modified residuei156PhosphoserineCombined sources1
Cross-linki194Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei203PhosphoserineCombined sources1
Modified residuei206PhosphoserineCombined sources1
Cross-linki208Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki212Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki372Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9NYB0
MaxQBiQ9NYB0
PaxDbiQ9NYB0
PeptideAtlasiQ9NYB0
PRIDEiQ9NYB0
ProteomicsDBi83206

PTM databases

iPTMnetiQ9NYB0
PhosphoSitePlusiQ9NYB0

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed.

Gene expression databases

BgeeiENSG00000166848 Expressed in 238 organ(s), highest expression level in pituitary gland
CleanExiHS_TERF2IP
ExpressionAtlasiQ9NYB0 baseline and differential
GenevisibleiQ9NYB0 HS

Organism-specific databases

HPAiCAB018660
CAB018749
HPA006719

Interactioni

Subunit structurei

Associates with the I-kappa-B-kinase (IKK) core complex, composed of CHUK, IKBKB and IKBKG (By similarity). Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with TERF2; the interaction is direct. Does not interact with TERF1. Interacts with SLX4/BTBD12.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AIMP2Q131552EBI-750109,EBI-745226
AKR1A1P145502EBI-750109,EBI-372388
AKR1B10O602182EBI-750109,EBI-1572139
AKR7A3O951542EBI-750109,EBI-748869
AKT1P317492EBI-750109,EBI-296087
BABAM1Q9NWV82EBI-750109,EBI-745725
BCL7BQ9BQE92EBI-750109,EBI-2560588
C1orf174Q8IYL32EBI-750109,EBI-715898
C9orf78Q9NZ632EBI-750109,EBI-2557577
CALML3P274822EBI-750109,EBI-747537
CHMP2BQ9UQN32EBI-750109,EBI-718324
COTL1Q140192EBI-750109,EBI-79926
CPNE2Q96FN42EBI-750109,EBI-7097057
CRKP461082EBI-750109,EBI-886
CTBP1Q133632EBI-750109,EBI-908846
DHX38Q926202EBI-750109,EBI-1043041
ENAHQ8N8S72EBI-750109,EBI-2834410
EPS8L1Q8TE682EBI-750109,EBI-7487998
FABP2P121042EBI-750109,EBI-3905109
FAM122AQ96E092EBI-750109,EBI-9355758
GAGE5Q130692EBI-750109,EBI-745702
GPKOWQ929172EBI-750109,EBI-746309
HAGHQ167752EBI-750109,EBI-3905342
HMGB3O153472EBI-750109,EBI-2214136
HMGN4O004792EBI-750109,EBI-2867693
HNRNPKP619782EBI-750109,EBI-304185
IL1RNP185102EBI-750109,EBI-1026330
LANCL2Q9NS862EBI-750109,EBI-2510837
MAGOHBQ96A722EBI-750109,EBI-746778
MCM2P497362EBI-750109,EBI-374819
MRTO4Q9UKD22EBI-750109,EBI-1046493
MT1XP802972EBI-750109,EBI-11308402
MT3P257132EBI-750109,EBI-8084264
NASPP493212EBI-750109,EBI-716205
NUDT14O958482EBI-750109,EBI-536866
NUDT18Q6ZVK82EBI-750109,EBI-740486
NUMA1Q149802EBI-750109,EBI-521611
OGFRQ9NZT22EBI-750109,EBI-1044212
PCNPQ8WW122EBI-750109,EBI-10972020
PCP4P485392EBI-750109,EBI-4287270
PEA15Q151212EBI-750109,EBI-714410
PGLSO953362EBI-750109,EBI-11307753
POLD1P283402EBI-750109,EBI-716569
PPP6R3Q5H9R72EBI-750109,EBI-355498
PRXQ9BXM02EBI-750109,EBI-1753064
PTMAP064542EBI-750109,EBI-2682091
RABIFP472242EBI-750109,EBI-713992
RBBP9O758842EBI-750109,EBI-11310604
RGMAQ96B862EBI-750109,EBI-722102
RPP25Q9BUL92EBI-750109,EBI-366570
S100PP258152EBI-750109,EBI-743700
SCLYQ96I152EBI-750109,EBI-2823066
SLX4Q8IY924EBI-750109,EBI-2370740
SMARCC2Q8TAQ22EBI-750109,EBI-357418
TALDO1P378372EBI-750109,EBI-1056712
TBCAO753472EBI-750109,EBI-2686341
TERF2Q1555436EBI-750109,EBI-706637
TINF2Q9BSI4-33EBI-750109,EBI-717418
TMSB4YO146042EBI-750109,EBI-751196
TOR1AIP1Q5JTV82EBI-750109,EBI-2559665
TSSC4Q9Y5U22EBI-750109,EBI-717229
TWF2Q6IBS02EBI-750109,EBI-722204
UCHL1P099362EBI-750109,EBI-714860
VGLL4Q141352EBI-750109,EBI-5278589
WDR5P619642EBI-750109,EBI-540834
XAGE2Q96GT92EBI-750109,EBI-750167
XRCC6P129563EBI-750109,EBI-353208
ZNF414Q96IQ92EBI-750109,EBI-744257

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119942, 160 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiQ9NYB0
DIPiDIP-34868N
IntActiQ9NYB0, 150 interactors
MINTiQ9NYB0
STRINGi9606.ENSP00000300086

Chemistry databases

BindingDBiQ9NYB0

Structurei

Secondary structure

1399
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NYB0
SMRiQ9NYB0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NYB0

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini78 – 101BRCTAdd BLAST24
Domaini128 – 188Myb-likeAdd BLAST61

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi383 – 399Nuclear localization signalSequence analysisAdd BLAST17

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi214 – 304Asp/Glu-rich (acidic)Add BLAST91

Sequence similaritiesi

Belongs to the RAP1 family.Curated

Phylogenomic databases

eggNOGiENOG410IJNC Eukaryota
ENOG4111QPC LUCA
GeneTreeiENSGT00390000005351
HOGENOMiHOG000120115
HOVERGENiHBG054209
InParanoidiQ9NYB0
KOiK11113
OMAiGFEIHIT
OrthoDBiEOG091G0NZ2
PhylomeDBiQ9NYB0
TreeFamiTF332348

Family and domain databases

Gene3Di1.10.10.2170, 1 hit
3.40.50.10190, 1 hit
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR009057 Homeobox-like_sf
IPR021661 Rap1_C
IPR038104 Rap1_C_sf
IPR015010 Rap1_Myb_dom
PfamiView protein in Pfam
PF16589 BRCT_2, 1 hit
PF08914 Myb_DNA-bind_2, 1 hit
PF11626 Rap1_C, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9NYB0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEAMDLGKD PNGPTHSSTL FVRDDGSSMS FYVRPSPAKR RLSTLILHGG
60 70 80 90 100
GTVCRVQEPG AVLLAQPGEA LAEASGDFIS TQYILDCVER NERLELEAYR
110 120 130 140 150
LGPASAADTG SEAKPGALAE GAAEPEPQRH AGRIAFTDAD DVAILTYVKE
160 170 180 190 200
NARSPSSVTG NALWKAMEKS SLTQHSWQSL KDRYLKHLRG QEHKYLLGDA
210 220 230 240 250
PVSPSSQKLK RKAEEDPEAA DSGEPQNKRT PDLPEEEYVK EEIQENEEAV
260 270 280 290 300
KKMLVEATRE FEEVVVDESP PDFEIHITMC DDDPPTPEED SETQPDEEEE
310 320 330 340 350
EEEEKVSQPE VGAAIKIIRQ LMEKFNLDLS TVTQAFLKNS GELEATSAFL
360 370 380 390
ASGQRADGYP IWSRQDDIDL QKDDEDTREA LVKKFGAQNV ARRIEFRKK
Length:399
Mass (Da):44,260
Last modified:October 1, 2000 - v1
Checksum:iEAA615777F9D3D3D
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BMI8H3BMI8_HUMAN
Telomeric repeat-binding factor 2-i...
TERF2IP
99Annotation score:
H3BR63H3BR63_HUMAN
Telomeric repeat-binding factor 2-i...
TERF2IP
122Annotation score:

Sequence cautioni

The sequence AAL55783 differs from that shown. Reason: Frameshift at position 151.Curated
The sequence BAA91317 differs from that shown. Reason: Erroneous termination at position 299. Translated as Glu.Curated
The sequence BAG60996 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti83Y → H in BAA91317 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050195324K → E. Corresponds to variant dbSNP:rs4888444Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF262988 mRNA Translation: AAF72711.1
AF250393 mRNA Translation: AAQ14259.1
AF289599 mRNA Translation: AAL55783.1 Frameshift.
AK000669 mRNA Translation: BAA91317.1 Sequence problems.
AK298880 mRNA Translation: BAG60996.1 Different initiation.
AC025287 Genomic DNA No translation available.
CH471114 Genomic DNA Translation: EAW95616.1
CH471114 Genomic DNA Translation: EAW95618.1
BC004465 mRNA Translation: AAH04465.1
BC005841 mRNA Translation: AAH05841.1
BC022428 mRNA Translation: AAH22428.1
BC078171 mRNA Translation: AAH78171.1
CCDSiCCDS32491.1
RefSeqiNP_061848.2, NM_018975.3
UniGeneiHs.301419

Genome annotation databases

EnsembliENST00000300086; ENSP00000300086; ENSG00000166848
GeneIDi54386
KEGGihsa:54386
UCSCiuc002fet.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF262988 mRNA Translation: AAF72711.1
AF250393 mRNA Translation: AAQ14259.1
AF289599 mRNA Translation: AAL55783.1 Frameshift.
AK000669 mRNA Translation: BAA91317.1 Sequence problems.
AK298880 mRNA Translation: BAG60996.1 Different initiation.
AC025287 Genomic DNA No translation available.
CH471114 Genomic DNA Translation: EAW95616.1
CH471114 Genomic DNA Translation: EAW95618.1
BC004465 mRNA Translation: AAH04465.1
BC005841 mRNA Translation: AAH05841.1
BC022428 mRNA Translation: AAH22428.1
BC078171 mRNA Translation: AAH78171.1
CCDSiCCDS32491.1
RefSeqiNP_061848.2, NM_018975.3
UniGeneiHs.301419

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FEXNMR-A132-190[»]
3K6GX-ray1.95A/B/C303-399[»]
4RQIX-ray2.44E/F/G/H89-106[»]
ProteinModelPortaliQ9NYB0
SMRiQ9NYB0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119942, 160 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiQ9NYB0
DIPiDIP-34868N
IntActiQ9NYB0, 150 interactors
MINTiQ9NYB0
STRINGi9606.ENSP00000300086

Chemistry databases

BindingDBiQ9NYB0
ChEMBLiCHEMBL3751647

PTM databases

iPTMnetiQ9NYB0
PhosphoSitePlusiQ9NYB0

Polymorphism and mutation databases

BioMutaiTERF2IP
DMDMi21542267

Proteomic databases

EPDiQ9NYB0
MaxQBiQ9NYB0
PaxDbiQ9NYB0
PeptideAtlasiQ9NYB0
PRIDEiQ9NYB0
ProteomicsDBi83206

Protocols and materials databases

DNASUi54386
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300086; ENSP00000300086; ENSG00000166848
GeneIDi54386
KEGGihsa:54386
UCSCiuc002fet.3 human

Organism-specific databases

CTDi54386
DisGeNETi54386
EuPathDBiHostDB:ENSG00000166848.5
GeneCardsiTERF2IP
HGNCiHGNC:19246 TERF2IP
HPAiCAB018660
CAB018749
HPA006719
MalaCardsiTERF2IP
MIMi605061 gene
neXtProtiNX_Q9NYB0
OpenTargetsiENSG00000166848
PharmGKBiPA134976325
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJNC Eukaryota
ENOG4111QPC LUCA
GeneTreeiENSGT00390000005351
HOGENOMiHOG000120115
HOVERGENiHBG054209
InParanoidiQ9NYB0
KOiK11113
OMAiGFEIHIT
OrthoDBiEOG091G0NZ2
PhylomeDBiQ9NYB0
TreeFamiTF332348

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence

Miscellaneous databases

ChiTaRSiTERF2IP human
EvolutionaryTraceiQ9NYB0
GeneWikiiTERF2IP
GenomeRNAii54386
PROiPR:Q9NYB0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166848 Expressed in 238 organ(s), highest expression level in pituitary gland
CleanExiHS_TERF2IP
ExpressionAtlasiQ9NYB0 baseline and differential
GenevisibleiQ9NYB0 HS

Family and domain databases

Gene3Di1.10.10.2170, 1 hit
3.40.50.10190, 1 hit
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR009057 Homeobox-like_sf
IPR021661 Rap1_C
IPR038104 Rap1_C_sf
IPR015010 Rap1_Myb_dom
PfamiView protein in Pfam
PF16589 BRCT_2, 1 hit
PF08914 Myb_DNA-bind_2, 1 hit
PF11626 Rap1_C, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTE2IP_HUMAN
AccessioniPrimary (citable) accession number: Q9NYB0
Secondary accession number(s): B4DQN4
, Q4W4Y2, Q8WYZ3, Q9NWR2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 180 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

3D-structure, Complete proteome, Reference proteome

Documents

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