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Q96BK5 (PINX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PINX1
Synonyms:LPTL, LPTS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length328 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.11 Ref.12 Ref.15 Ref.16 Ref.17 Ref.18

Subunit structure

Interacts with MCRS1, TERT, TERF1, NCL/nucleolin, and the telomerase RNA. Ref.10 Ref.11 Ref.14 Ref.15

Subcellular location

Nucleus. Nucleusnucleolus. Chromosometelomere. Chromosomecentromerekinetochore. Note: Localizes in nucleoli, at telomere speckles and to the outer plate of kinetochores. Localization to the kinetochore is mediated by its central region and depends on NDC80 and CENPE. Ref.15 Ref.17 Ref.18

Tissue specificity

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

Domain

The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibit its activity. Ref.14

The TBM domain mediates interaction with TERF1. Ref.14

Sequence similarities

Belongs to the PINX1 family.

Contains 1 G-patch domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96BK5-1)

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.
Isoform 2 (identifier: Q96BK5-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 328328PIN2/TERF1-interacting telomerase inhibitor 1
PRO_0000058443

Regions

Domain26 – 7247G-patch
Region254 – 32875Telomerase inhibitory domain (TID)
Motif287 – 29711TBM

Natural variations

Alternative sequence133 – 17442KDLSS…TTTTS → RCQSLHSRGERNHDNQRLHH PGVLCQADGSTEEQAPGSSS RV in isoform 2.
VSP_003945
Alternative sequence175 – 328154Missing in isoform 2.
VSP_003946
Natural variant2061Q → H.
Corresponds to variant rs35530857 [ dbSNP | Ensembl ].
VAR_054024
Natural variant2151R → I. Ref.7
Corresponds to variant rs17855458 [ dbSNP | Ensembl ].
VAR_054025
Natural variant2201T → A.
Corresponds to variant rs17711777 [ dbSNP | Ensembl ].
VAR_054026
Natural variant2541S → C. Ref.2
Corresponds to variant rs1078543 [ dbSNP | Ensembl ].
VAR_054027
Natural variant3151E → A.
Corresponds to variant rs34656824 [ dbSNP | Ensembl ].
VAR_054028

Experimental info

Mutagenesis2911L → A: Abolishes interaction with TERF1. Ref.14
Mutagenesis2931P → A: Does not affect interaction with TERF1. Ref.14
Sequence conflict501Q → H in AAH15479. Ref.9
Sequence conflict185 – 1862RM → PV in AAK31790. Ref.2
Sequence conflict2041E → V in CAC51436. Ref.3
Sequence conflict2051T → A in AAS19507. Ref.6
Sequence conflict2591E → K in AAK31790. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 20, 2002. Version 2.
Checksum: A298B31AEA6D18E1

FASTA32837,035
        10         20         30         40         50         60 
MSMLAERRRK QKWAVDPQNT AWSNDDSKFG QRMLEKMGWS KGKGLGAQEQ GATDHIKVQV 

        70         80         90        100        110        120 
KNNHLGLGAT INNEDNWIAH QDDFNQLLAE LNTCHGQETT DSSDKKEKKS FSLEEKSKIS 

       130        140        150        160        170        180 
KNRVHYMKFT KGKDLSSRSK TDLDCIFGKR QSKKTPEGDA SPSTPEENET TTTSAFTIQE 

       190        200        210        220        230        240 
YFAKRMAALK NKPQVPVPGS DISETQVERK RGKKRNKEAT GKDVESYLQP KAKRHTEGKP 

       250        260        270        280        290        300 
ERAEAQERVA KKKSAPAEEQ LRGPCWDQSS KASAQDAGDH VQPPEGRDFT LKPKKRRGKK 

       310        320 
KLQKPVEIAE DATLEETLVK KKKKKDSK 

« Hide

Isoform 2 (PINY1) [UniParc].

Checksum: C569D5959A04362C
Show »

FASTA17419,714

References

« Hide 'large scale' references
[1]"Identification of the gene for a novel liver-related putative tumor suppressor at a high-frequency loss of heterozygosity region of chromosome 8p23 in human hepatocellular carcinoma."
Liao C., Zhao M., Song H., Uchida K., Yokoyama K.K., Li T.P.
Hepatology 32:721-727(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Liver.
[2]"The Pin2/TRF1-interacting protein PinX1 is a potent telomerase inhibitor."
Zhou X.Z., Lu K.P.
Cell 107:347-359(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CYS-254.
Tissue: Cervix carcinoma.
[3]Schmidt T.
Thesis (2001), University of Goettingen, Germany
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"Identification of the gene LPTL, encoding for a new isoform of human putative tumor suppressor LPTS."
Liao C., Zhao M., Li T.P.
Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]Qiang F.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[6]Fu Q., Cao Y., Zuo A., Liang D., Zhang Y., Wang B., Huang H., Wu Y., Zhu L., Wang P., Guo S., Guo G., Zhang J., Wang X.
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-215.
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[10]"Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length."
Song H., Li Y., Chen G., Xing Z., Zhao J., Yokoyama K.K., Li T., Zhao M.
Biochem. Biophys. Res. Commun. 316:1116-1123(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MCRS1.
[11]"Characterization of interactions between PinX1 and human telomerase subunits hTERT and hTR."
Banik S.S.R., Counter C.M.
J. Biol. Chem. 279:51745-51748(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH TERT AND THE TELOMERASE RNA.
[12]"Characterization of a novel effect of hPinX1 on hTERT nucleolar localization."
Lin J., Jin R., Zhang B., Yang P.X., Chen H., Bai Y.X., Xie Y., Huang C., Huang J.
Biochem. Biophys. Res. Commun. 353:946-952(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[13]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins."
Chen Y., Yang Y., van Overbeek M., Donigian J.R., Baciu P., de Lange T., Lei M.
Science 319:1092-1096(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TERF1, DOMAIN TBM, MUTAGENESIS OF LEU-291 AND PRO-293.
[15]"PinX1 is recruited to the mitotic chromosome periphery by nucleolin and facilitates chromosome congression."
Li N., Yuan K., Yan F., Huo Y., Zhu T., Liu X., Guo Z., Yao X.
Biochem. Biophys. Res. Commun. 384:76-81(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NCL/NUCLEOLIN.
[16]"Silencing PinX1 compromises telomere length maintenance as well as tumorigenicity in telomerase-positive human cancer cells."
Zhang B., Bai Y.X., Ma H.H., Feng F., Jin R., Wang Z.L., Lin J., Sun S.P., Yang P., Wang X.X., Huang P.T., Huang C.F., Peng Y., Chen Y.C., Kung H.F., Huang J.J.
Cancer Res. 69:75-83(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[17]"PinX1 is a novel microtubule-binding protein essential for accurate chromosome segregation."
Yuan K., Li N., Jiang K., Zhu T., Huo Y., Wang C., Lu J., Shaw A., Thomas K., Zhang J., Mann D., Liao J., Jin C., Yao X.
J. Biol. Chem. 284:23072-23082(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, FUNCTION.
[18]"Human PinX1 mediates TRF1 accumulation in nucleolus and enhances TRF1 binding to telomeres."
Yoo J.E., Oh B.-K., Park Y.N.
J. Mol. Biol. 388:928-940(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, FUNCTION.
[19]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[20]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001271285.1. NM_001284356.1.
NP_060354.4. NM_017884.5.
UniGeneHs.490991.
Hs.583894.

3D structure databases

ProteinModelPortalQ96BK5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120319. 26 interactions.
IntActQ96BK5. 9 interactions.
MINTMINT-221403.

PTM databases

PhosphoSiteQ96BK5.

Polymorphism databases

DMDM21542178.

Proteomic databases

PaxDbQ96BK5.
PRIDEQ96BK5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314787; ENSP00000318966; ENSG00000254093. [Q96BK5-1]
ENST00000519088; ENSP00000428853; ENSG00000254093. [Q96BK5-2]
GeneID54984.
KEGGhsa:54984.
UCSCuc003wth.2. human. [Q96BK5-1]
uc003wti.2. human. [Q96BK5-2]

Organism-specific databases

CTD54984.
GeneCardsGC08M010659.
HGNCHGNC:30046. PINX1.
HPAHPA023139.
MIM606505. gene.
neXtProtNX_Q96BK5.
PharmGKBPA165585852.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242943.
HOVERGENHBG061365.
InParanoidQ96BK5.
KOK11135.
OMAEDCVWPP.
OrthoDBEOG789CCG.
PhylomeDBQ96BK5.
TreeFamTF321918.

Gene expression databases

ArrayExpressQ96BK5.
BgeeQ96BK5.
GenevestigatorQ96BK5.

Family and domain databases

InterProIPR000467. G_patch_dom.
[Graphical view]
PfamPF01585. G-patch. 1 hit.
[Graphical view]
SMARTSM00443. G_patch. 1 hit.
[Graphical view]
PROSITEPS50174. G_PATCH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPINX1.
GenomeRNAi54984.
NextBio58258.
PROQ96BK5.
SOURCESearch...

Entry information

Entry namePINX1_HUMAN
AccessionPrimary (citable) accession number: Q96BK5
Secondary accession number(s): B2R9B1 expand/collapse secondary AC list , Q548A5, Q6QWG9, Q7Z7J8, Q96QD7, Q9HBU7, Q9NWW2
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: June 20, 2002
Last modified: April 16, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM