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Protein

Pleckstrin homology domain-containing family N member 1

Gene

PLEKHN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:G66-30823-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family N member 1
Short name:
PH domain-containing family N member 1
Gene namesi
Name:PLEKHN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25284. PLEKHN1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2G → A: Localizes to intracellular organelles. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000187583.
PharmGKBiPA142671166.

Polymorphism and mutation databases

BioMutaiPLEKHN1.
DMDMi160419245.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00003093632 – 663Pleckstrin homology domain-containing family N member 1Add BLAST662

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei611PhosphoserineCombined sources1

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

MaxQBiQ494U1.
PeptideAtlasiQ494U1.
PRIDEiQ494U1.

PTM databases

iPTMnetiQ494U1.
PhosphoSitePlusiQ494U1.

Expressioni

Gene expression databases

BgeeiENSG00000187583.
CleanExiHS_PLEKHN1.
ExpressionAtlasiQ494U1. baseline and differential.
GenevisibleiQ494U1. HS.

Organism-specific databases

HPAiHPA031742.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
LPXNO607113EBI-10241513,EBI-744222
LZTS2Q9BRK43EBI-10241513,EBI-741037
RELQ048643EBI-10241513,EBI-307352
RFX6Q8HWS33EBI-10241513,EBI-746118
SPERTQ8NA613EBI-10241513,EBI-741724
TAX1BP1Q86VP13EBI-10241513,EBI-529518
TCF4P158843EBI-10241513,EBI-533224
TP53BP2Q13625-33EBI-10241513,EBI-10175039
TRAF1Q130773EBI-10241513,EBI-359224
TRIM27P143733EBI-10241513,EBI-719493

Protein-protein interaction databases

BioGridi123864. 10 interactors.
IntActiQ494U1. 22 interactors.
MINTiMINT-4725611.

Structurei

3D structure databases

ProteinModelPortaliQ494U1.
SMRiQ494U1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini96 – 232PH 1Add BLAST137
Domaini274 – 371PH 2Add BLAST98

Sequence similaritiesi

Contains 2 PH domains.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

GeneTreeiENSGT00390000003618.
HOGENOMiHOG000115562.
InParanoidiQ494U1.
OMAiYHLEKQM.
OrthoDBiEOG091G02CR.
PhylomeDBiQ494U1.
TreeFamiTF316105.

Family and domain databases

Gene3Di2.30.29.30. 3 hits.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
SMARTiSM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q494U1-1) [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
MGNSHCVPQA PRRLRASFSR KPSLKGNRED SARMSAGLPG PEAARSGDAA
60 70 80 90 100
ANKLFHYIPG TDILDLENQR ENLEQPFLSV FKKGRRRVPV RNLGKVVHYA
110 120 130 140 150
KVQLRFQHSQ DVSDCYLELF PAHLYFQAHG SEGLTFQGLL PLTELSVCPL
160 170 180 190 200
EGSREHAFQI TGVWDASRAP RGTPDPGLGE GPALWLRSTC VYVCALSALP
210 220 230 240 250
AGPLPAPLLV LCPSRAELDR WLYHLEKQTA LLGGPRRCHS APPQGSCGDE
260 270 280 290 300
LPWTLQRRLT RLRTASGHEP GGSAVCASRV KLQHLPAQEQ WDRLLVLYPT
310 320 330 340 350
SLAIFSEELD GLCFKGELPL RAVHINLEEK EKQIRSFLIE GPLINTIRVV
360 370 380 390 400
CASYEDYGHW LLCLRAVTHR EGAPPLPGAE SFPGSQVMGS GRGSLSSGGQ
410 420 430 440 450
TSWDSGCLAP PSTRTSHSLP ESSVPSTVGC SSQHTPDQAN SDRASIGRRR
460 470 480 490 500
TELRRSGSSR SPGSKARAEG RGPVTPLHLD LTQLHRLSLE SSPDAPDHTS
510 520 530 540 550
ETSHSPLYAD PYTPPATSHR RVTDVRGLEE FLSAMQSARG PTPSSPLPSV
560 570 580 590 600
PVSVPASDPR SCSSGPAGPY LLSKKGALQS RAAQRHRGSA KDGGPQPPDA
610 620 630 640 650
PQLVSSAREG SPEPWLPLTD GRSPRRSRDP GYDHLWDETL SSSHQKCPQL
660
GGPEASGGLV QWI
Length:663
Mass (Da):71,790
Last modified:November 13, 2007 - v2
Checksum:iE6D476D8688DFFE8
GO
Isoform 2 (identifier: Q494U1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-202: Missing.
     245-256: Missing.

Note: No experimental confirmation available.
Show »
Length:611
Mass (Da):66,409
Checksum:i4163BA09DF9525C9
GO
Isoform 3 (identifier: Q494U1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-202: Missing.
     437-483: Missing.

Note: No experimental confirmation available.
Show »
Length:576
Mass (Da):62,613
Checksum:i323FF81C7963CB97
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti612P → S in AAI01388 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036946539R → P.1 PublicationCorresponds to variant rs3829740dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029151163 – 202Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST40
Alternative sequenceiVSP_029152245 – 256Missing in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_029153437 – 483Missing in isoform 3. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136730 mRNA. Translation: CAB66664.1.
AL645608 Genomic DNA. Translation: CAI15570.1.
CH471183 Genomic DNA. Translation: EAW56299.1.
BC101386 mRNA. Translation: AAI01387.1.
BC101387 mRNA. Translation: AAI01388.1.
CCDSiCCDS4.1. [Q494U1-2]
CCDS53256.1. [Q494U1-3]
RefSeqiNP_001153656.1. NM_001160184.1. [Q494U1-3]
NP_115505.2. NM_032129.2. [Q494U1-2]
UniGeneiHs.528691.

Genome annotation databases

EnsembliENST00000379407; ENSP00000368717; ENSG00000187583. [Q494U1-3]
ENST00000379409; ENSP00000368719; ENSG00000187583. [Q494U1-1]
ENST00000379410; ENSP00000368720; ENSG00000187583. [Q494U1-2]
GeneIDi84069.
KEGGihsa:84069.
UCSCiuc001acd.4. human. [Q494U1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136730 mRNA. Translation: CAB66664.1.
AL645608 Genomic DNA. Translation: CAI15570.1.
CH471183 Genomic DNA. Translation: EAW56299.1.
BC101386 mRNA. Translation: AAI01387.1.
BC101387 mRNA. Translation: AAI01388.1.
CCDSiCCDS4.1. [Q494U1-2]
CCDS53256.1. [Q494U1-3]
RefSeqiNP_001153656.1. NM_001160184.1. [Q494U1-3]
NP_115505.2. NM_032129.2. [Q494U1-2]
UniGeneiHs.528691.

3D structure databases

ProteinModelPortaliQ494U1.
SMRiQ494U1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123864. 10 interactors.
IntActiQ494U1. 22 interactors.
MINTiMINT-4725611.

PTM databases

iPTMnetiQ494U1.
PhosphoSitePlusiQ494U1.

Polymorphism and mutation databases

BioMutaiPLEKHN1.
DMDMi160419245.

Proteomic databases

MaxQBiQ494U1.
PeptideAtlasiQ494U1.
PRIDEiQ494U1.

Protocols and materials databases

DNASUi84069.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379407; ENSP00000368717; ENSG00000187583. [Q494U1-3]
ENST00000379409; ENSP00000368719; ENSG00000187583. [Q494U1-1]
ENST00000379410; ENSP00000368720; ENSG00000187583. [Q494U1-2]
GeneIDi84069.
KEGGihsa:84069.
UCSCiuc001acd.4. human. [Q494U1-1]

Organism-specific databases

CTDi84069.
GeneCardsiPLEKHN1.
H-InvDBHIX0199925.
HGNCiHGNC:25284. PLEKHN1.
HPAiHPA031742.
neXtProtiNX_Q494U1.
OpenTargetsiENSG00000187583.
PharmGKBiPA142671166.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000003618.
HOGENOMiHOG000115562.
InParanoidiQ494U1.
OMAiYHLEKQM.
OrthoDBiEOG091G02CR.
PhylomeDBiQ494U1.
TreeFamiTF316105.

Enzyme and pathway databases

BioCyciZFISH:G66-30823-MONOMER.

Miscellaneous databases

GenomeRNAii84069.
PROiQ494U1.

Gene expression databases

BgeeiENSG00000187583.
CleanExiHS_PLEKHN1.
ExpressionAtlasiQ494U1. baseline and differential.
GenevisibleiQ494U1. HS.

Family and domain databases

Gene3Di2.30.29.30. 3 hits.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
SMARTiSM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiPKHN1_HUMAN
AccessioniPrimary (citable) accession number: Q494U1
Secondary accession number(s): Q494U2, Q5SV98, Q9H0M7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: November 30, 2016
This is version 94 of the entry and version 2 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.