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Protein

PIN2/TERF1-interacting telomerase inhibitor 1

Gene

PINX1

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

Functioni

Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor.6 Publications

GO - Molecular functioni

  • protein-containing complex binding Source: BHF-UCL
  • telomerase inhibitor activity Source: BHF-UCL
  • telomerase RNA binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

SIGNORiQ96BK5

Names & Taxonomyi

Protein namesi
Recommended name:
PIN2/TERF1-interacting telomerase inhibitor 1
Alternative name(s):
Liver-related putative tumor suppressor
Pin2-interacting protein X1
Protein 67-11-3
TRF1-interacting protein 1
Gene namesi
Name:PINX1
Synonyms:LPTL, LPTS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000254093.8
HGNCiHGNC:30046 PINX1
MIMi606505 gene
neXtProtiNX_Q96BK5

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

Centromere, Chromosome, Kinetochore, Nucleus, Telomere

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi291L → A: Abolishes interaction with TERF1. 1 Publication1
Mutagenesisi293P → A: Does not affect interaction with TERF1. 1 Publication1

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi54984
OpenTargetsiENSG00000254093
PharmGKBiPA165585852

Polymorphism and mutation databases

BioMutaiPINX1
DMDMi21542178

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000584431 – 328PIN2/TERF1-interacting telomerase inhibitor 1Add BLAST328

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei270PhosphoserineBy similarity1
Modified residuei273PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96BK5
MaxQBiQ96BK5
PaxDbiQ96BK5
PeptideAtlasiQ96BK5
PRIDEiQ96BK5
ProteomicsDBi76086
76087 [Q96BK5-2]

PTM databases

iPTMnetiQ96BK5
PhosphoSitePlusiQ96BK5

Expressioni

Tissue specificityi

Ubiquitous; expressed at low levels. Not detectable in a number of hepatocarcinoma cell lines.

Gene expression databases

BgeeiENSG00000254093 Expressed in 193 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ96BK5 baseline and differential
GenevisibleiQ96BK5 HS

Organism-specific databases

HPAiHPA023139

Interactioni

Subunit structurei

Interacts with MCRS1, TERT, TERF1, NCL/nucleolin, and the telomerase RNA.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF1P542743EBI-721782,EBI-710997

Protein-protein interaction databases

BioGridi120319, 51 interactors
ELMiQ96BK5
IntActiQ96BK5, 22 interactors
MINTiQ96BK5
STRINGi9606.ENSP00000318966

Structurei

3D structure databases

ProteinModelPortaliQ96BK5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 72G-patchPROSITE-ProRule annotationAdd BLAST47

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni254 – 328Telomerase inhibitory domain (TID)Add BLAST75

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi287 – 297TBMAdd BLAST11

Domaini

The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibit its activity.1 Publication
The TBM domain mediates interaction with TERF1.1 Publication

Sequence similaritiesi

Belongs to the PINX1 family.Curated

Phylogenomic databases

eggNOGiKOG2809 Eukaryota
ENOG4111IXK LUCA
GeneTreeiENSGT00450000040279
HOVERGENiHBG061365
InParanoidiQ96BK5
KOiK11135
OMAiDPNNTKW
OrthoDBiEOG091G0SES
PhylomeDBiQ96BK5
TreeFamiTF321918

Family and domain databases

InterProiView protein in InterPro
IPR000467 G_patch_dom
PfamiView protein in Pfam
PF01585 G-patch, 1 hit
SMARTiView protein in SMART
SM00443 G_patch, 1 hit
PROSITEiView protein in PROSITE
PS50174 G_PATCH, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96BK5-1) [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
MSMLAERRRK QKWAVDPQNT AWSNDDSKFG QRMLEKMGWS KGKGLGAQEQ
60 70 80 90 100
GATDHIKVQV KNNHLGLGAT INNEDNWIAH QDDFNQLLAE LNTCHGQETT
110 120 130 140 150
DSSDKKEKKS FSLEEKSKIS KNRVHYMKFT KGKDLSSRSK TDLDCIFGKR
160 170 180 190 200
QSKKTPEGDA SPSTPEENET TTTSAFTIQE YFAKRMAALK NKPQVPVPGS
210 220 230 240 250
DISETQVERK RGKKRNKEAT GKDVESYLQP KAKRHTEGKP ERAEAQERVA
260 270 280 290 300
KKKSAPAEEQ LRGPCWDQSS KASAQDAGDH VQPPEGRDFT LKPKKRRGKK
310 320
KLQKPVEIAE DATLEETLVK KKKKKDSK
Length:328
Mass (Da):37,035
Last modified:June 20, 2002 - v2
Checksum:iA298B31AEA6D18E1
GO
Isoform 2 (identifier: Q96BK5-2) [UniParc]FASTAAdd to basket
Also known as: PINY1

The sequence of this isoform differs from the canonical sequence as follows:
     133-174: KDLSSRSKTD...PEENETTTTS → RCQSLHSRGE...EQAPGSSSRV
     175-328: Missing.

Show »
Length:174
Mass (Da):19,714
Checksum:iC569D5959A04362C
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RJG9E5RJG9_HUMAN
PIN2/TERF1-interacting telomerase i...
PINX1
134Annotation score:
E5RGR1E5RGR1_HUMAN
PIN2/TERF1-interacting telomerase i...
PINX1
198Annotation score:
H0YBF0H0YBF0_HUMAN
PIN2/TERF1-interacting telomerase i...
PINX1
19Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti50Q → H in AAH15479 (PubMed:15489334).Curated1
Sequence conflicti185 – 186RM → PV in AAK31790 (PubMed:11701125).Curated2
Sequence conflicti204E → V in CAC51436 (Ref. 3) Curated1
Sequence conflicti205T → A in AAS19507 (Ref. 6) Curated1
Sequence conflicti259E → K in AAK31790 (PubMed:11701125).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054024206Q → H. Corresponds to variant dbSNP:rs35530857Ensembl.1
Natural variantiVAR_054025215R → I1 PublicationCorresponds to variant dbSNP:rs17855458Ensembl.1
Natural variantiVAR_054026220T → A. Corresponds to variant dbSNP:rs17711777Ensembl.1
Natural variantiVAR_054027254S → C1 PublicationCorresponds to variant dbSNP:rs1078543Ensembl.1
Natural variantiVAR_054028315E → A. Corresponds to variant dbSNP:rs34656824Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003945133 – 174KDLSS…TTTTS → RCQSLHSRGERNHDNQRLHH PGVLCQADGSTEEQAPGSSS RV in isoform 2. 2 PublicationsAdd BLAST42
Alternative sequenceiVSP_003946175 – 328Missing in isoform 2. 2 PublicationsAdd BLAST154

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF205718 mRNA Translation: AAG18009.1
AY029161 mRNA Translation: AAK31790.1
AJ344104 mRNA Translation: CAC51436.1
AF418553 mRNA Translation: AAN31333.1
AY238941 mRNA Translation: AAP37006.1
AY523566 mRNA Translation: AAS19507.1
AK000572 mRNA Translation: BAA91263.1
AK313715 mRNA Translation: BAG36458.1
CH471157 Genomic DNA Translation: EAW65596.1
BC015479 mRNA Translation: AAH15479.1
BC093762 mRNA Translation: AAH93762.1
CCDSiCCDS47801.1 [Q96BK5-1]
CCDS64825.1 [Q96BK5-2]
RefSeqiNP_001271285.1, NM_001284356.1 [Q96BK5-2]
NP_060354.4, NM_017884.5 [Q96BK5-1]
UniGeneiHs.490991

Genome annotation databases

EnsembliENST00000314787; ENSP00000318966; ENSG00000254093 [Q96BK5-1]
ENST00000519088; ENSP00000428853; ENSG00000254093 [Q96BK5-2]
GeneIDi54984
KEGGihsa:54984
UCSCiuc003wth.4 human [Q96BK5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF205718 mRNA Translation: AAG18009.1
AY029161 mRNA Translation: AAK31790.1
AJ344104 mRNA Translation: CAC51436.1
AF418553 mRNA Translation: AAN31333.1
AY238941 mRNA Translation: AAP37006.1
AY523566 mRNA Translation: AAS19507.1
AK000572 mRNA Translation: BAA91263.1
AK313715 mRNA Translation: BAG36458.1
CH471157 Genomic DNA Translation: EAW65596.1
BC015479 mRNA Translation: AAH15479.1
BC093762 mRNA Translation: AAH93762.1
CCDSiCCDS47801.1 [Q96BK5-1]
CCDS64825.1 [Q96BK5-2]
RefSeqiNP_001271285.1, NM_001284356.1 [Q96BK5-2]
NP_060354.4, NM_017884.5 [Q96BK5-1]
UniGeneiHs.490991

3D structure databases

ProteinModelPortaliQ96BK5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120319, 51 interactors
ELMiQ96BK5
IntActiQ96BK5, 22 interactors
MINTiQ96BK5
STRINGi9606.ENSP00000318966

PTM databases

iPTMnetiQ96BK5
PhosphoSitePlusiQ96BK5

Polymorphism and mutation databases

BioMutaiPINX1
DMDMi21542178

Proteomic databases

EPDiQ96BK5
MaxQBiQ96BK5
PaxDbiQ96BK5
PeptideAtlasiQ96BK5
PRIDEiQ96BK5
ProteomicsDBi76086
76087 [Q96BK5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314787; ENSP00000318966; ENSG00000254093 [Q96BK5-1]
ENST00000519088; ENSP00000428853; ENSG00000254093 [Q96BK5-2]
GeneIDi54984
KEGGihsa:54984
UCSCiuc003wth.4 human [Q96BK5-1]

Organism-specific databases

CTDi54984
DisGeNETi54984
EuPathDBiHostDB:ENSG00000254093.8
GeneCardsiPINX1
HGNCiHGNC:30046 PINX1
HPAiHPA023139
MIMi606505 gene
neXtProtiNX_Q96BK5
OpenTargetsiENSG00000254093
PharmGKBiPA165585852
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2809 Eukaryota
ENOG4111IXK LUCA
GeneTreeiENSGT00450000040279
HOVERGENiHBG061365
InParanoidiQ96BK5
KOiK11135
OMAiDPNNTKW
OrthoDBiEOG091G0SES
PhylomeDBiQ96BK5
TreeFamiTF321918

Enzyme and pathway databases

SIGNORiQ96BK5

Miscellaneous databases

GeneWikiiPINX1
GenomeRNAii54984
PROiPR:Q96BK5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000254093 Expressed in 193 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ96BK5 baseline and differential
GenevisibleiQ96BK5 HS

Family and domain databases

InterProiView protein in InterPro
IPR000467 G_patch_dom
PfamiView protein in Pfam
PF01585 G-patch, 1 hit
SMARTiView protein in SMART
SM00443 G_patch, 1 hit
PROSITEiView protein in PROSITE
PS50174 G_PATCH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPINX1_HUMAN
AccessioniPrimary (citable) accession number: Q96BK5
Secondary accession number(s): B2R9B1
, Q548A5, Q6QWG9, Q7Z7J8, Q96QD7, Q9HBU7, Q9NWW2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: June 20, 2002
Last modified: November 7, 2018
This is version 148 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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