UniProtKB - Q14651 (PLSI_HUMAN)
Protein
Plastin-1
Gene
PLS1
Organism
Homo sapiens (Human)
Status
Functioni
Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions.By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 24 – 35 | 1PROSITE-ProRule annotationAdd BLAST | 12 | |
Calcium bindingi | 64 – 75 | 2PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- actin filament binding Source: GO_Central
- calcium ion binding Source: InterPro
- structural constituent of cytoskeleton Source: ProtInc
GO - Biological processi
- actin filament bundle assembly Source: GO_Central
- actin filament network formation Source: GO_Central
- auditory receptor cell stereocilium organization Source: UniProtKB
- intestinal D-glucose absorption Source: Ensembl
- positive regulation of multicellular organism growth Source: Ensembl
- positive regulation of protein localization to plasma membrane Source: UniProtKB
- regulation of microvillus length Source: Ensembl
- terminal web assembly Source: Ensembl
- vestibular receptor cell stereocilium organization Source: UniProtKB
Keywordsi
Molecular function | Actin-binding |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q14651 |
Names & Taxonomyi
Protein namesi | Recommended name: Plastin-1Alternative name(s): Intestine-specific plastin Short name: I-plastin |
Gene namesi | Name:PLS1 |
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:9090, PLS1 |
MIMi | 602734, gene |
neXtProti | NX_Q14651 |
VEuPathDBi | HostDB:ENSG00000120756.12 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Other locations
- stereocilium By similarity
Cytoskeleton
- actin filament Source: GO_Central
- actin filament bundle Source: GO_Central
- terminal web Source: Ensembl
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- brush border Source: UniProtKB
- cytoplasm Source: GO_Central
- stereocilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, CytoplasmPathology & Biotechi
Involvement in diseasei
Deafness, autosomal dominant, 76 (DFNA76)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss and variable age at onset. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083821 | 128 | F → S in DFNA76. 1 Publication | 1 | |
Natural variantiVAR_083822 | 238 | L → R in DFNA76. 1 Publication | 1 | |
Natural variantiVAR_083823 | 269 | E → K in DFNA76. 2 Publications | 1 | |
Natural variantiVAR_083824 | 363 | L → F in DFNA76. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 5357 |
MalaCardsi | PLS1 |
MIMi | 618787, phenotype |
OpenTargetsi | ENSG00000120756 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA33417 |
Miscellaneous databases
Pharosi | Q14651, Tbio |
Genetic variation databases
BioMutai | PLS1 |
DMDMi | 224471848 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073750 | 1 – 629 | Plastin-1Add BLAST | 629 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 |
Post-translational modificationi
Phosphorylated.By similarity
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q14651 |
jPOSTi | Q14651 |
MassIVEi | Q14651 |
MaxQBi | Q14651 |
PaxDbi | Q14651 |
PeptideAtlasi | Q14651 |
PRIDEi | Q14651 |
ProteomicsDBi | 60090 |
PTM databases
iPTMneti | Q14651 |
MetOSitei | Q14651 |
PhosphoSitePlusi | Q14651 |
Expressioni
Tissue specificityi
In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach.1 Publication
Gene expression databases
Bgeei | ENSG00000120756, Expressed in sigmoid colon and 185 other tissues |
ExpressionAtlasi | Q14651, baseline and differential |
Genevisiblei | Q14651, HS |
Organism-specific databases
HPAi | ENSG00000120756, Tissue enriched (intestine) |
Interactioni
Subunit structurei
Monomer.
By similarityGO - Molecular functioni
- actin filament binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 111371, 75 interactors |
IntActi | Q14651, 40 interactors |
MINTi | Q14651 |
STRINGi | 9606.ENSP00000336831 |
Miscellaneous databases
RNActi | Q14651, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 46 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 51 – 86 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 122 – 238 | Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST | 117 | |
Domaini | 266 – 376 | Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST | 111 | |
Domaini | 395 – 504 | Calponin-homology (CH) 3PROSITE-ProRule annotationAdd BLAST | 110 | |
Domaini | 516 – 625 | Calponin-homology (CH) 4PROSITE-ProRule annotationAdd BLAST | 110 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 108 – 380 | Actin-binding 1Add BLAST | 273 | |
Regioni | 381 – 625 | Actin-binding 2Add BLAST | 245 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0046, Eukaryota |
GeneTreei | ENSGT00950000183097 |
HOGENOMi | CLU_015284_2_0_1 |
InParanoidi | Q14651 |
OMAi | AGWRTIN |
OrthoDBi | 312506at2759 |
PhylomeDBi | Q14651 |
TreeFami | TF300680 |
Family and domain databases
CDDi | cd00014, CH, 2 hits cd00051, EFh, 1 hit |
Gene3Di | 1.10.418.10, 4 hits |
InterProi | View protein in InterPro IPR001589, Actinin_actin-bd_CS IPR001715, CH-domain IPR036872, CH_dom_sf IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR039959, Fimbrin/Plastin IPR030235, PLS1 |
PANTHERi | PTHR19961, PTHR19961, 1 hit PTHR19961:SF27, PTHR19961:SF27, 1 hit |
Pfami | View protein in Pfam PF00307, CH, 4 hits PF13499, EF-hand_7, 1 hit |
SMARTi | View protein in SMART SM00033, CH, 4 hits SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS00019, ACTININ_1, 2 hits PS00020, ACTININ_2, 2 hits PS50021, CH, 4 hits PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
Q14651-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MENSTTTISR EELEELQEAF NKIDIDNSGY VSDYELQDLF KEASLPLPGY
60 70 80 90 100
KVREIVEKIL SVADSNKDGK ISFEEFVSLM QELKSKDISK TFRKIINKRE
110 120 130 140 150
GITAIGGTST ISSEGTQHSY SEEEKVAFVN WINKALENDP DCKHLIPMNP
160 170 180 190 200
NDDSLFKSLA DGILLCKMIN LSEPDTIDER AINKKKLTPF TISENLNLAL
210 220 230 240 250
NSASAIGCTV VNIGASDLKE GKPHLVLGLL WQIIKVGLFA DIEISRNEAL
260 270 280 290 300
IALLNEGEEL EELMKLSPEE LLLRWVNYHL TNAGWHTISN FSQDIKDSRA
310 320 330 340 350
YFHLLNQIAP KGGEDGPAIA IDLSGINETN DLKRAGLMLQ EADKLGCKQF
360 370 380 390 400
VTPADVVSGN PKLNLAFVAN LFNTYPCLHK PNNNDIDMNL LEGESKEERT
410 420 430 440 450
FRNWMNSLGV NPYINHLYSD LADALVIFQL YEMIRVPVNW SHVNKPPYPA
460 470 480 490 500
LGGNMKKIEN CNYAVELGKN KAKFSLVGIA GQDLNEGNST LTLALVWQLM
510 520 530 540 550
RRYTLNVLSD LGEGEKVNDE IIIKWVNQTL KSANKKTSIS SFKDKSISTS
560 570 580 590 600
LPVLDLIDAI APNAVRQEMI RRENLSDEDK LNNAKYAISV ARKIGARIYA
610 620
LPDDLVEVKP KMVMTVFACL MGKGLNRIK
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J0F3 | C9J0F3_HUMAN | Plastin-1 | PLS1 | 120 | Annotation score: | ||
C9J359 | C9J359_HUMAN | Plastin-1 | PLS1 | 119 | Annotation score: | ||
C9JVY2 | C9JVY2_HUMAN | Plastin-1 | PLS1 | 54 | Annotation score: | ||
C9JAM3 | C9JAM3_HUMAN | Plastin-1 | PLS1 | 52 | Annotation score: | ||
C9JU08 | C9JU08_HUMAN | Plastin-1 | PLS1 | 58 | Annotation score: | ||
C9JYI1 | C9JYI1_HUMAN | Plastin-1 | PLS1 | 33 | Annotation score: | ||
C9JAM8 | C9JAM8_HUMAN | Plastin-1 | PLS1 | 266 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 317 | P → L in BAF83005 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 441 | S → R in AAH31083 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 487 | G → R in AAA19869 (PubMed:8139549).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083821 | 128 | F → S in DFNA76. 1 Publication | 1 | |
Natural variantiVAR_048660 | 146 | I → M. Corresponds to variant dbSNP:rs35710125Ensembl. | 1 | |
Natural variantiVAR_048661 | 216 | S → L. Corresponds to variant dbSNP:rs35435507Ensembl. | 1 | |
Natural variantiVAR_083822 | 238 | L → R in DFNA76. 1 Publication | 1 | |
Natural variantiVAR_083823 | 269 | E → K in DFNA76. 2 Publications | 1 | |
Natural variantiVAR_083824 | 363 | L → F in DFNA76. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L20826 mRNA Translation: AAA19869.1 AK290316 mRNA Translation: BAF83005.1 CH471052 Genomic DNA Translation: EAW78965.1 CH471052 Genomic DNA Translation: EAW78967.1 BC031083 mRNA Translation: AAH31083.1 |
CCDSi | CCDS3125.1 |
PIRi | A56536 |
RefSeqi | NP_001138791.1, NM_001145319.1 NP_001165783.1, NM_001172312.1 NP_002661.2, NM_002670.2 XP_006713723.1, XM_006713660.3 XP_011511202.1, XM_011512900.2 XP_011511203.1, XM_011512901.1 XP_011511205.1, XM_011512903.2 XP_016862115.1, XM_017006626.1 XP_016862116.1, XM_017006627.1 |
Genome annotation databases
Ensembli | ENST00000337777; ENSP00000336831; ENSG00000120756 ENST00000457734; ENSP00000387890; ENSG00000120756 ENST00000497002; ENSP00000418700; ENSG00000120756 |
GeneIDi | 5357 |
KEGGi | hsa:5357 |
UCSCi | uc003euz.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L20826 mRNA Translation: AAA19869.1 AK290316 mRNA Translation: BAF83005.1 CH471052 Genomic DNA Translation: EAW78965.1 CH471052 Genomic DNA Translation: EAW78967.1 BC031083 mRNA Translation: AAH31083.1 |
CCDSi | CCDS3125.1 |
PIRi | A56536 |
RefSeqi | NP_001138791.1, NM_001145319.1 NP_001165783.1, NM_001172312.1 NP_002661.2, NM_002670.2 XP_006713723.1, XM_006713660.3 XP_011511202.1, XM_011512900.2 XP_011511203.1, XM_011512901.1 XP_011511205.1, XM_011512903.2 XP_016862115.1, XM_017006626.1 XP_016862116.1, XM_017006627.1 |
3D structure databases
SMRi | Q14651 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111371, 75 interactors |
IntActi | Q14651, 40 interactors |
MINTi | Q14651 |
STRINGi | 9606.ENSP00000336831 |
PTM databases
iPTMneti | Q14651 |
MetOSitei | Q14651 |
PhosphoSitePlusi | Q14651 |
Genetic variation databases
BioMutai | PLS1 |
DMDMi | 224471848 |
Proteomic databases
EPDi | Q14651 |
jPOSTi | Q14651 |
MassIVEi | Q14651 |
MaxQBi | Q14651 |
PaxDbi | Q14651 |
PeptideAtlasi | Q14651 |
PRIDEi | Q14651 |
ProteomicsDBi | 60090 |
Protocols and materials databases
Antibodypediai | 33495, 147 antibodies |
DNASUi | 5357 |
Genome annotation databases
Ensembli | ENST00000337777; ENSP00000336831; ENSG00000120756 ENST00000457734; ENSP00000387890; ENSG00000120756 ENST00000497002; ENSP00000418700; ENSG00000120756 |
GeneIDi | 5357 |
KEGGi | hsa:5357 |
UCSCi | uc003euz.4, human |
Organism-specific databases
CTDi | 5357 |
DisGeNETi | 5357 |
GeneCardsi | PLS1 |
HGNCi | HGNC:9090, PLS1 |
HPAi | ENSG00000120756, Tissue enriched (intestine) |
MalaCardsi | PLS1 |
MIMi | 602734, gene 618787, phenotype |
neXtProti | NX_Q14651 |
OpenTargetsi | ENSG00000120756 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA33417 |
VEuPathDBi | HostDB:ENSG00000120756.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0046, Eukaryota |
GeneTreei | ENSGT00950000183097 |
HOGENOMi | CLU_015284_2_0_1 |
InParanoidi | Q14651 |
OMAi | AGWRTIN |
OrthoDBi | 312506at2759 |
PhylomeDBi | Q14651 |
TreeFami | TF300680 |
Enzyme and pathway databases
PathwayCommonsi | Q14651 |
Miscellaneous databases
BioGRID-ORCSi | 5357, 7 hits in 994 CRISPR screens |
GenomeRNAii | 5357 |
Pharosi | Q14651, Tbio |
PROi | PR:Q14651 |
RNActi | Q14651, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120756, Expressed in sigmoid colon and 185 other tissues |
ExpressionAtlasi | Q14651, baseline and differential |
Genevisiblei | Q14651, HS |
Family and domain databases
CDDi | cd00014, CH, 2 hits cd00051, EFh, 1 hit |
Gene3Di | 1.10.418.10, 4 hits |
InterProi | View protein in InterPro IPR001589, Actinin_actin-bd_CS IPR001715, CH-domain IPR036872, CH_dom_sf IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR039959, Fimbrin/Plastin IPR030235, PLS1 |
PANTHERi | PTHR19961, PTHR19961, 1 hit PTHR19961:SF27, PTHR19961:SF27, 1 hit |
Pfami | View protein in Pfam PF00307, CH, 4 hits PF13499, EF-hand_7, 1 hit |
SMARTi | View protein in SMART SM00033, CH, 4 hits SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS00019, ACTININ_1, 2 hits PS00020, ACTININ_2, 2 hits PS50021, CH, 4 hits PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PLSI_HUMAN | |
Accessioni | Q14651Primary (citable) accession number: Q14651 Secondary accession number(s): A8K2Q1, D3DNG3, Q8NEG6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | March 3, 2009 | |
Last modified: | April 7, 2021 | |
This is version 179 of the entry and version 2 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 3
Human chromosome 3: 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 - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot