UniProtKB - Q494U1 (PKHN1_HUMAN)
Pleckstrin homology domain-containing family N member 1
PLEKHN1
Functioni
Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010).
Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity).
Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylserine (PS) (PubMed:18191643).
Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon cancer cells (PubMed:29531808) (By similarity).
By similarity3 PublicationsGO - Molecular functioni
- cardiolipin binding Source: UniProtKB
- phosphatidic acid binding Source: UniProtKB
- phosphatidylinositol phosphate binding Source: UniProtKB
- phosphatidylserine binding Source: UniProtKB
GO - Biological processi
- 3'-UTR-mediated mRNA destabilization Source: UniProtKB
- positive regulation of apoptotic process Source: UniProtKB
- response to hypoxia Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q494U1 |
SignaLinki | Q494U1 |
Names & Taxonomyi
Protein namesi | Recommended name: Pleckstrin homology domain-containing family N member 1Short name: PH domain-containing family N member 1 Alternative name(s): Cardiolipin and phosphatidic acid-binding protein2 Publications |
Gene namesi | Name:PLEKHN1 Synonyms:CLPABP2 Publications |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25284, PLEKHN1 |
neXtProti | NX_Q494U1 |
VEuPathDBi | HostDB:ENSG00000187583 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Lipid-anchor 1 Publication
Mitochondrion
- Mitochondrion 2 Publications
- Mitochondrion membrane 2 Publications
Note: Interaction with C1QBP and phosphorylation is essential for its mitochondrial localization. Localizes on the microtubule in the form of small granules.1 Publication
Cytoskeleton
- cytoskeleton Source: UniProtKB
Mitochondrion
- mitochondrial membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell membrane, Membrane, MitochondrionPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2 | G → A: Loss of myristoylation, reduced protein stability, morphological alterations in mitochondria but no effect on its mitochondrial localization. Loss of cell membrane localization leading to localization to intracellular organelles. 2 Publications | 1 | |
Mutagenesisi | 302 | Y → F: Loss of phosphorylation and interaction with C1QBP; when associated with F-456. 1 Publication | 1 | |
Mutagenesisi | 456 | Y → F: Loss of phosphorylation and interaction with C1QBP; when associated with F-302. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 84069 |
OpenTargetsi | ENSG00000187583 |
PharmGKBi | PA142671166 |
Miscellaneous databases
Pharosi | Q494U1, Tbio |
Genetic variation databases
BioMutai | PLEKHN1 |
DMDMi | 160419245 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed2 Publications | |||
ChainiPRO_0000309363 | 2 – 611 | Pleckstrin homology domain-containing family N member 1Add BLAST | 610 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 2 | N-myristoyl glycine2 Publications | 1 | |
Modified residuei | 302 | Phosphotyrosine1 Publication | 1 | |
Modified residuei | 456 | Phosphotyrosine1 Publication | 1 | |
Modified residuei | 559 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Lipoprotein, Myristate, PhosphoproteinProteomic databases
jPOSTi | Q494U1 |
MassIVEi | Q494U1 |
MaxQBi | Q494U1 |
PeptideAtlasi | Q494U1 |
PRIDEi | Q494U1 |
ProteomicsDBi | 61938 [Q494U1-1] 61939 [Q494U1-2] 61940 [Q494U1-3] |
PTM databases
iPTMneti | Q494U1 |
PhosphoSitePlusi | Q494U1 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000187583, Expressed in lower esophagus mucosa and 145 other tissues |
ExpressionAtlasi | Q494U1, baseline and differential |
Genevisiblei | Q494U1, HS |
Organism-specific databases
HPAi | ENSG00000187583, Group enriched (esophagus, skin, vagina) |
Interactioni
Subunit structurei
Binary interactionsi
Q494U1
Isoform 3 [Q494U1-3]
Protein-protein interaction databases
BioGRIDi | 123864, 54 interactors |
IntActi | Q494U1, 52 interactors |
MINTi | Q494U1 |
STRINGi | 9606.ENSP00000368720 |
Miscellaneous databases
RNActi | Q494U1, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 96 – 192 | PH 1Add BLAST | 97 | |
Domaini | 222 – 319 | PH 2Add BLAST | 98 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 45 | DisorderedSequence analysisAdd BLAST | 45 | |
Regioni | 61 – 100 | Interaction with C1QBP1 PublicationAdd BLAST | 40 | |
Regioni | 323 – 424 | DisorderedSequence analysisAdd BLAST | 102 | |
Regioni | 438 – 468 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 483 – 611 | DisorderedSequence analysisAdd BLAST | 129 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 335 – 390 | Polar residuesSequence analysisAdd BLAST | 56 | |
Compositional biasi | 438 – 455 | Polar residuesSequence analysisAdd BLAST | 18 |
Domaini
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QSRE, Eukaryota |
GeneTreei | ENSGT00390000003618 |
HOGENOMi | CLU_031048_0_0_1 |
InParanoidi | Q494U1 |
OMAi | TSHHKIT |
OrthoDBi | 474079at2759 |
PhylomeDBi | Q494U1 |
TreeFami | TF316105 |
Family and domain databases
CDDi | cd13323, PH_PLEKHN1, 1 hit |
Gene3Di | 2.30.29.30, 2 hits |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR042835, PLEKHN1 IPR037839, PLEKHN1_PH |
PANTHERi | PTHR46882, PTHR46882, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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 TGPLPAPLLV LCPSRAELDR WLYHLEKQTA LLGGPRRCHS
210 220 230 240 250
APPQRRLTRL RTASGHEPGG SAVCASRVKL QHLPAQEQWD RLLVLYPTSL
260 270 280 290 300
AIFSEELDGL CFKGELPLRA VHINLEEKEK QIRSFLIEGP LINTIRVVCA
310 320 330 340 350
SYEDYGHWLL CLRAVTHREG APPLPGAESF PGSQVMGSGR GSLSSGGQTS
360 370 380 390 400
WDSGCLAPPS TRTSHSLPES SVPSTVGCSS QHTPDQANSD RASIGRRRTE
410 420 430 440 450
LRRSGSSRSP GSKARAEGRG PVTPLHLDLT QLHRLSLESS PDAPDHTSET
460 470 480 490 500
SHSPLYADPY TPPATSHRRV TDVRGLEEFL SAMQSARGPT PSSPLPSVPV
510 520 530 540 550
SVPASDPRSC SSGPAGPYLL SKKGALQSRA AQRHRGSAKD GGPQPPDAPQ
560 570 580 590 600
LVSSAREGSP EPWLPLTDGR SPRRSRDPGY DHLWDETLSS SHQKCPQLGG
610
PEASGGLVQW I
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketJ3KSM5 | J3KSM5_HUMAN | Pleckstrin homology domain-containi... | PLEKHN1 | 176 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 560 | P → S in AAI01388 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036946 | 487 | R → P1 PublicationCorresponds to variant dbSNP:rs3829740Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_059838 | 162 | G → GVWDASRAPRGTPDPGLGEG PALWLRSTCVYVCALSALPA G in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_059839 | 204 | Q → QGSCGDELPWTLQ in isoform 2 and isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_059840 | 385 – 431 | Missing in isoform 3. 1 PublicationAdd BLAST | 47 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136730 mRNA Translation: CAB66664.1 AL645608 Genomic DNA No translation available. CH471183 Genomic DNA Translation: EAW56299.1 BC101386 mRNA Translation: AAI01387.1 BC101387 mRNA Translation: AAI01388.1 |
CCDSi | CCDS4.1 [Q494U1-1] CCDS53256.1 [Q494U1-3] |
RefSeqi | NP_001153656.1, NM_001160184.1 [Q494U1-3] NP_115505.2, NM_032129.2 [Q494U1-1] |
Genome annotation databases
Ensembli | ENST00000379407; ENSP00000368717; ENSG00000187583 [Q494U1-3] ENST00000379409; ENSP00000368719; ENSG00000187583 [Q494U1-2] ENST00000379410; ENSP00000368720; ENSG00000187583 |
GeneIDi | 84069 |
KEGGi | hsa:84069 |
MANE-Selecti | ENST00000379410.8; ENSP00000368720.3; NM_032129.3; NP_115505.2 |
UCSCi | uc001acd.4, human [Q494U1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136730 mRNA Translation: CAB66664.1 AL645608 Genomic DNA No translation available. CH471183 Genomic DNA Translation: EAW56299.1 BC101386 mRNA Translation: AAI01387.1 BC101387 mRNA Translation: AAI01388.1 |
CCDSi | CCDS4.1 [Q494U1-1] CCDS53256.1 [Q494U1-3] |
RefSeqi | NP_001153656.1, NM_001160184.1 [Q494U1-3] NP_115505.2, NM_032129.2 [Q494U1-1] |
3D structure databases
SMRi | Q494U1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123864, 54 interactors |
IntActi | Q494U1, 52 interactors |
MINTi | Q494U1 |
STRINGi | 9606.ENSP00000368720 |
PTM databases
iPTMneti | Q494U1 |
PhosphoSitePlusi | Q494U1 |
Genetic variation databases
BioMutai | PLEKHN1 |
DMDMi | 160419245 |
Proteomic databases
jPOSTi | Q494U1 |
MassIVEi | Q494U1 |
MaxQBi | Q494U1 |
PeptideAtlasi | Q494U1 |
PRIDEi | Q494U1 |
ProteomicsDBi | 61938 [Q494U1-1] 61939 [Q494U1-2] 61940 [Q494U1-3] |
Protocols and materials databases
Antibodypediai | 51118, 10 antibodies from 6 providers |
DNASUi | 84069 |
Genome annotation databases
Ensembli | ENST00000379407; ENSP00000368717; ENSG00000187583 [Q494U1-3] ENST00000379409; ENSP00000368719; ENSG00000187583 [Q494U1-2] ENST00000379410; ENSP00000368720; ENSG00000187583 |
GeneIDi | 84069 |
KEGGi | hsa:84069 |
MANE-Selecti | ENST00000379410.8; ENSP00000368720.3; NM_032129.3; NP_115505.2 |
UCSCi | uc001acd.4, human [Q494U1-1] |
Organism-specific databases
CTDi | 84069 |
DisGeNETi | 84069 |
GeneCardsi | PLEKHN1 |
HGNCi | HGNC:25284, PLEKHN1 |
HPAi | ENSG00000187583, Group enriched (esophagus, skin, vagina) |
neXtProti | NX_Q494U1 |
OpenTargetsi | ENSG00000187583 |
PharmGKBi | PA142671166 |
VEuPathDBi | HostDB:ENSG00000187583 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSRE, Eukaryota |
GeneTreei | ENSGT00390000003618 |
HOGENOMi | CLU_031048_0_0_1 |
InParanoidi | Q494U1 |
OMAi | TSHHKIT |
OrthoDBi | 474079at2759 |
PhylomeDBi | Q494U1 |
TreeFami | TF316105 |
Enzyme and pathway databases
PathwayCommonsi | Q494U1 |
SignaLinki | Q494U1 |
Miscellaneous databases
BioGRID-ORCSi | 84069, 100 hits in 1031 CRISPR screens |
GenomeRNAii | 84069 |
Pharosi | Q494U1, Tbio |
PROi | PR:Q494U1 |
RNActi | Q494U1, protein |
Gene expression databases
Bgeei | ENSG00000187583, Expressed in lower esophagus mucosa and 145 other tissues |
ExpressionAtlasi | Q494U1, baseline and differential |
Genevisiblei | Q494U1, HS |
Family and domain databases
CDDi | cd13323, PH_PLEKHN1, 1 hit |
Gene3Di | 2.30.29.30, 2 hits |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR042835, PLEKHN1 IPR037839, PLEKHN1_PH |
PANTHERi | PTHR46882, PTHR46882, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | PKHN1_HUMAN | |
Accessioni | Q494U1Primary (citable) accession number: Q494U1 Secondary accession number(s): Q494U2, Q5SV98, Q9H0M7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | October 10, 2018 | |
Last modified: | February 23, 2022 | |
This is version 129 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports