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Gene id 54386
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol TERF2IP   Gene   UCSC   Ensembl
Aliases DRIP5, RAP1
Gene name TERF2 interacting protein
Alternate names telomeric repeat-binding factor 2-interacting protein 1, TERF2-interacting telomeric protein 1, TRF2-interacting telomeric RAP1 protein, dopamine receptor-interacting protein 5, repressor/activator protein 1 homolog,
Gene location 16q23.1 (75647736: 75657441)     Exons: 3     NC_000016.10
Gene summary(Entrez) The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
OMIM 605061

Protein Summary
Protein general information Q9NYB0  

Name: Telomeric repeat binding factor 2 interacting protein 1 (TERF2 interacting telomeric protein 1) (TRF2 interacting telomeric protein 1) (Dopamine receptor interacting protein 5) (Repressor/activator protein 1 homolog) (RAP1 homolog) (hRap1)

Length: 399  Mass: 44260

Tissue specificity: Ubiquitous. Highly expressed.

Sequence MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPGAVLLAQPGEALAEAS
GDFISTQYILDCVERNERLELEAYRLGPASAADTGSEAKPGALAEGAAEPEPQRHAGRIAFTDADDVAILTYVKE
NARSPSSVTGNALWKAMEKSSLTQHSWQSLKDRYLKHLRGQEHKYLLGDAPVSPSSQKLKRKAEEDPEAADSGEP
QNKRTPDLPEEEYVKEEIQENEEAVKKMLVEATREFEEVVVDESPPDFEIHITMCDDDPPTPEEDSETQPDEEEE
EEEEKVSQPEVGAAIKIIRQLMEKFNLDLSTVTQAFLKNSGELEATSAFLASGQRADGYPIWSRQDDIDLQKDDE
DTREALVKKFGAQNVARRIEFRKK
Structural information
Protein Domains
 (78..10-)
(/note="BRCT-)
(128..18-)
(/note="Myb-like"-)
Interpro:  IPR001357  IPR036420  IPR009057  IPR021661  IPR038104  
IPR015010  IPR039595  

PDB:  		 1FEX 3K6G 4RQI
PDBsum:   1FEX 3K6G 4RQI

DIP:  
34868
MINT:  
STRING:   ENSP00000300086
Other Databases GeneCards:  TERF2IP  Malacards:  TERF2IP

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:1901224 positive regulation of NI
K/NF-kappaB signaling
 IMP biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IMP biological process
GO:0005737 cytoplasm
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0001933 negative regulation of pr
otein phosphorylation
 IMP biological process
GO:0019902 phosphatase binding
 IPI molecular function
GO:0032205 negative regulation of te
lomere maintenance
 IDA biological process
GO:0005634 nucleus
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:1901985 positive regulation of pr
otein acetylation
 IMP biological process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
 IMP biological process
GO:0000723 telomere maintenance
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0070187 shelterin complex
 IBA cellular component
GO:0010833 telomere maintenance via
telomere lengthening
 IBA biological process
GO:0000723 telomere maintenance
 IBA biological process
GO:0042162 telomeric DNA binding
 IBA molecular function
GO:0006355 regulation of transcripti
on, DNA-templated
 IBA biological process
GO:0003677 DNA binding
 IBA molecular function
GO:0000781 chromosome, telomeric reg
ion
 IEA cellular component
GO:0005694 chromosome
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0000228 nuclear chromosome
 TAS cellular component
GO:0007004 telomere maintenance via
telomerase
 TAS biological process
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0016233 telomere capping
 TAS biological process
GO:0016233 telomere capping
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0000781 chromosome, telomeric reg
ion
 IEA cellular component
GO:0010569 regulation of double-stra
nd break repair via homol
ogous recombination
 IEA biological process
GO:0010833 telomere maintenance via
telomere lengthening
 IEA biological process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IEA biological process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IEA biological process
GO:0000784 nuclear chromosome, telom
eric region
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005635 nuclear envelope
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0048239 negative regulation of DN
A recombination at telome
re
 IEA biological process
GO:0000784 nuclear chromosome, telom
eric region
 IDA cellular component
GO:0042162 telomeric DNA binding
 IDA molecular function
GO:0000784 nuclear chromosome, telom
eric region
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0070187 shelterin complex
 IDA cellular component
GO:0070187 shelterin complex
 IDA cellular component
GO:0000784 nuclear chromosome, telom
eric region
 IDA cellular component
GO:0098505 G-rich strand telomeric D
NA binding
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0070187 shelterin complex
 IDA cellular component
GO:0000784 nuclear chromosome, telom
eric region
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0000784 nuclear chromosome, telom
eric region
 HDA cellular component
GO:0042162 telomeric DNA binding
 TAS NOT|molecular function
GO:0000723 telomere maintenance
 IDA biological process
GO:0000781 chromosome, telomeric reg
ion
 IDA cellular component
GO:0000783 nuclear telomere cap comp
lex
 IDA cellular component
GO:0000783 nuclear telomere cap comp
lex
 IDA cellular component
GO:0000784 nuclear chromosome, telom
eric region
 IDA cellular component
GO:0030870 Mre11 complex
 IDA colocalizes with
GO:0031848 protection from non-homol
ogous end joining at telo
mere
 IMP biological process
GO:0032204 regulation of telomere ma
intenance
 IMP biological process
GO:0070198 protein localization to c
hromosome, telomeric regi
on
 IMP biological process
GO:0005694 chromosome
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0000781 chromosome, telomeric reg
ion
 IEA cellular component
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 ISS biological process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 ISS biological process
GO:0010833 telomere maintenance via
telomere lengthening
 ISS biological process
GO:0010569 regulation of double-stra
nd break repair via homol
ogous recombination
 ISS biological process
GO:0000781 chromosome, telomeric reg
ion
 ISS cellular component
GO:0048239 negative regulation of DN
A recombination at telome
re
 ISS biological process
GO:0031848 protection from non-homol
ogous end joining at telo
mere
 ISS NOT|biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 ISS biological process
GO:0005737 cytoplasm
 ISS cellular component
GO:0005634 nucleus
 ISS cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005654 nucleoplasm
 IDA cellular component
GO:0016604 nuclear body
 IDA cellular component
GO:0005829 cytosol
 IDA cellular component

Diseases

Expand All | Collapse All
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract