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Protein

PIH1 domain-containing protein 1

Gene

PIH1D1

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

Functioni

Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei57Interacts with TELO21 Publication1
Sitei64Interacts with TELO21 Publication1
Sitei113Interacts with TELO2By similarity1

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • histone binding Source: UniProtKB
  • phosphoprotein binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • RNA polymerase I CORE element sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
PIH1 domain-containing protein 1
Alternative name(s):
Nucleolar protein 17 homolog
Gene namesi
Name:PIH1D1
Synonyms:NOP17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104872.10
HGNCiHGNC:26075 PIH1D1
MIMi611480 gene
neXtProtiNX_Q9NWS0

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi54F → A: Abolishes binding to histone H4. 1 Publication1
Mutagenesisi55C → A: No effect on binding to histone H4. 1 Publication1
Mutagenesisi57K → A: Abolishes binding to TELO2. 1 Publication1
Mutagenesisi64K → A: Abolishes binding to ECD, EFTUD2, RPB1, TELO2 and UBR5. 1 Publication1
Mutagenesisi113K → A: Reduces binding to TELO2. 1 Publication1
Mutagenesisi163R → A: Reduces binding to TELO2. 1 Publication1
Mutagenesisi166K → A: Reduces binding to TELO2. 1 Publication1
Mutagenesisi168R → A: Abolishes binding to TELO2. 1 Publication1

Organism-specific databases

DisGeNETi55011
OpenTargetsiENSG00000104872
PharmGKBiPA162399535

Polymorphism and mutation databases

BioMutaiPIH1D1
DMDMi74719379

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003073281 – 290PIH1 domain-containing protein 1Add BLAST290

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineBy similarity1
Modified residuei173PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NWS0
MaxQBiQ9NWS0
PaxDbiQ9NWS0
PeptideAtlasiQ9NWS0
PRIDEiQ9NWS0
ProteomicsDBi82964

PTM databases

iPTMnetiQ9NWS0
PhosphoSitePlusiQ9NWS0

Expressioni

Tissue specificityi

Expressed at low levels in normal mammary epithelial cells (at protein level) (PubMed:24036451). Highest expression in lung, leukocyte and placenta. Expressed at lower levels in brain, prostate, colon, heart, small intestine, liver, ovary, pancreas, skeletal muscle, spleen, testis and thymus (PubMed:21078300).2 Publications

Gene expression databases

BgeeiENSG00000104872 Expressed in 221 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_PIH1D1
ExpressionAtlasiQ9NWS0 baseline and differential
GenevisibleiQ9NWS0 HS

Organism-specific databases

HPAiHPA047258

Interactioni

Subunit structurei

Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with phosphorylated TELO2 and mediates interaction of TELO2 with the R2TP complex (PubMed:20864032, PubMed:24656813). Interacts with phosphorylated ECD, EFTUD2/SNRP116, RPB1 and UBR5 and with RPB1 in a phosphorylation-independent manner (PubMed:24656813). Interacts with the core C/D box snoRNP particle components NOP58 and FBL and with RUVBL1/TIP49 (PubMed:17636026). Interacts with RPAP3 and WDR92 (PubMed:21078300). Interacts with histone H4 and with SWI/SNF complex member SMARCB1/SNF5 (PubMed:22368283). Interacts with the mTORC1 complex member RPTOR (PubMed:24036451).6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120343, 69 interactors
IntActiQ9NWS0, 68 interactors
MINTiQ9NWS0
STRINGi9606.ENSP00000262265

Structurei

Secondary structure

1290
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NWS0
SMRiQ9NWS0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.1 Publication

Sequence similaritiesi

Belongs to the PIH1 family.Curated

Phylogenomic databases

eggNOGiKOG4356 Eukaryota
ENOG410XQ8C LUCA
GeneTreeiENSGT00510000048192
HOGENOMiHOG000067888
HOVERGENiHBG108251
InParanoidiQ9NWS0
OMAiINQDFFQ
OrthoDBiEOG091G0I5K
PhylomeDBiQ9NWS0
TreeFamiTF324376

Family and domain databases

InterProiView protein in InterPro
IPR012981 PIH1_dom
PANTHERiPTHR22997 PTHR22997, 1 hit
PfamiView protein in Pfam
PF08190 PIH1, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 13 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q9NWS0-1) [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
MANPKLLGMG LSEAEAIGAD SARFEELLLQ ASKELQQAQT TRPESTQIQP
60 70 80 90 100
QPGFCIKTNS SEGKVFINIC HSPSIPPPAD VTEEELLQML EEDQAGFRIP
110 120 130 140 150
MSLGEPHAEL DAKGQGCTAY DVAVNSDFYR RMQNSDFLRE LVITIAREGL
160 170 180 190 200
EDKYNLQLNP EWRMMKNRPF MGSISQQNIR SEQRPRIQEL GDLYTPAPGR
210 220 230 240 250
AESGPEKPHL NLWLEAPDLL LAEVDLPKLD GALGLSLEIG ENRLVMGGPQ
260 270 280 290
QLYHLDAYIP LQINSHESKA AFHRKRKQLM VAMPLLPVPS
Length:290
Mass (Da):32,363
Last modified:October 1, 2000 - v1
Checksum:i074A9CD4037A4882
GO
Isoform 2 (identifier: Q9NWS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-290: ASKELQQAQT...VAMPLLPVPS → LSCIRIAPFE...ARDHHRQGGP

Show »
Length:180
Mass (Da):19,911
Checksum:iA5D8D025BB07B746
GO
Isoform 3 (identifier: Q9NWS0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-290: KGQGCTAYDV...VAMPLLPVPS → SQCPQRTQES...GGLGRVLFVH

Show »
Length:199
Mass (Da):21,376
Checksum:iEFAF44E772FDD8E1
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0J2M0R0J2_HUMAN
PIH1 domain-containing protein 1
PIH1D1
82Annotation score:
M0QXD5M0QXD5_HUMAN
PIH1 domain-containing protein 1
PIH1D1
236Annotation score:
M0R3A8M0R3A8_HUMAN
PIH1 domain-containing protein 1
PIH1D1
115Annotation score:
M0R2P8M0R2P8_HUMAN
PIH1 domain-containing protein 1
PIH1D1
114Annotation score:
M0QYF4M0QYF4_HUMAN
PIH1 domain-containing protein 1
PIH1D1
164Annotation score:
M0QYA2M0QYA2_HUMAN
PIH1 domain-containing protein 1
PIH1D1
273Annotation score:
M0QZ61M0QZ61_HUMAN
PIH1 domain-containing protein 1
PIH1D1
54Annotation score:
M0QZM3M0QZM3_HUMAN
PIH1 domain-containing protein 1
PIH1D1
129Annotation score:
M0R3A4M0R3A4_HUMAN
PIH1 domain-containing protein 1
PIH1D1
183Annotation score:
M0R028M0R028_HUMAN
PIH1 domain-containing protein 1
PIH1D1
87Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9 – 10MG → LE in AAH01108 (PubMed:15489334).Curated2
Sequence conflicti102S → G in BAG57848 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0354109M → L1 PublicationCorresponds to variant dbSNP:rs2293012Ensembl.1
Natural variantiVAR_03541110G → E1 PublicationCorresponds to variant dbSNP:rs2293013Ensembl.1
Natural variantiVAR_035412224V → I1 PublicationCorresponds to variant dbSNP:rs13394Ensembl.1
Natural variantiVAR_035413230D → E. Corresponds to variant dbSNP:rs34198213Ensembl.1
Natural variantiVAR_035414287P → L1 PublicationCorresponds to variant dbSNP:rs7462Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04442431 – 290ASKEL…LPVPS → LSCIRIAPFEEQMRGLMAQT PSLEVVFLYTGLEGAPASPD NQTRIDTNPASAWFLHKDQL LGREGFHQHLPLPLYPSSRR RDRGGAASDARGGPSWVSHP HESGRASCRTGCKRPGMYRL RRSCQQRLLPEDAEQRFLAG ARDHHRQGGP in isoform 2. 1 PublicationAdd BLAST260
Alternative sequenceiVSP_044425113 – 290KGQGC…LPVPS → SQCPQRTQESGPLGPFFPRT QESWAQDPPPSAPGDLAPRS DSFPYGRSLVPWTSHTRAVL VLPPGQAGTFPCPTPGPGGL GRVLFVH in isoform 3. 1 PublicationAdd BLAST178

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000650 mRNA Translation: BAA91307.1
AK294687 mRNA Translation: BAG57848.1
AK304476 mRNA Translation: BAG65289.1
BC001108 mRNA Translation: AAH01108.1
CCDSiCCDS12765.1 [Q9NWS0-1]
RefSeqiNP_060386.1, NM_017916.2 [Q9NWS0-1]
UniGeneiHs.5245

Genome annotation databases

EnsembliENST00000262265; ENSP00000262265; ENSG00000104872 [Q9NWS0-1]
ENST00000596049; ENSP00000470445; ENSG00000104872 [Q9NWS0-1]
GeneIDi55011
KEGGihsa:55011
UCSCiuc002pns.3 human [Q9NWS0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPIHD1_HUMAN
AccessioniPrimary (citable) accession number: Q9NWS0
Secondary accession number(s): B4DGN7, B4E2X7, Q9BVL0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 125 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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