Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5357
Gene name Gene Name - the full gene name approved by the HGNC.	Plastin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLS1
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA76
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q23
Summary Summary of gene provided in NCBI Entrez Gene.	Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this ge

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1560070780	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1577876794	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1577888561	T>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1577888985	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant

Show/Hide all(240)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020466	hsa-miR-106b-5p	Microarray	17242205
MIRT020716	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT023752	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT029352	hsa-miR-26b-5p	Microarray	19088304
MIRT050998	hsa-miR-17-5p	CLASH	23622248
MIRT045231	hsa-miR-186-5p	CLASH	23622248
MIRT044764	hsa-miR-320a	CLASH	23622248
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090617	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT090628	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT090629	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090612	hsa-miR-16-1-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT090615	hsa-miR-137	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT550069	hsa-miR-1178-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090617	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT090628	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT090629	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090612	hsa-miR-16-1-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT090615	hsa-miR-137	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT550069	hsa-miR-1178-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT1243161	hsa-miR-4717-3p	CLIP-seq
MIRT1243162	hsa-miR-106a	CLIP-seq
MIRT1243163	hsa-miR-106b	CLIP-seq
MIRT1243164	hsa-miR-1178	CLIP-seq
MIRT1243165	hsa-miR-132	CLIP-seq
MIRT1243166	hsa-miR-144	CLIP-seq
MIRT1243167	hsa-miR-17	CLIP-seq
MIRT1243168	hsa-miR-200b	CLIP-seq
MIRT1243169	hsa-miR-200c	CLIP-seq
MIRT1243170	hsa-miR-20a	CLIP-seq
MIRT1243171	hsa-miR-20b	CLIP-seq
MIRT1243172	hsa-miR-212	CLIP-seq
MIRT1243173	hsa-miR-27a	CLIP-seq
MIRT1243174	hsa-miR-27b	CLIP-seq
MIRT1243175	hsa-miR-3149	CLIP-seq
MIRT1243176	hsa-miR-3151	CLIP-seq
MIRT1243177	hsa-miR-3190	CLIP-seq
MIRT1243178	hsa-miR-320b	CLIP-seq
MIRT1243179	hsa-miR-320c	CLIP-seq
MIRT1243180	hsa-miR-320d	CLIP-seq
MIRT1243181	hsa-miR-329	CLIP-seq
MIRT1243182	hsa-miR-3613-3p	CLIP-seq
MIRT1243183	hsa-miR-362-3p	CLIP-seq
MIRT1243184	hsa-miR-4265	CLIP-seq
MIRT1243185	hsa-miR-429	CLIP-seq
MIRT1243186	hsa-miR-4296	CLIP-seq
MIRT1243187	hsa-miR-4322	CLIP-seq
MIRT1243188	hsa-miR-4426	CLIP-seq
MIRT1243189	hsa-miR-4429	CLIP-seq
MIRT1243190	hsa-miR-4434	CLIP-seq
MIRT1243191	hsa-miR-4447	CLIP-seq
MIRT1243192	hsa-miR-4472	CLIP-seq
MIRT1243193	hsa-miR-4516	CLIP-seq
MIRT1243194	hsa-miR-4531	CLIP-seq
MIRT1243195	hsa-miR-4534	CLIP-seq
MIRT1243196	hsa-miR-4647	CLIP-seq
MIRT1243197	hsa-miR-4662b	CLIP-seq
MIRT1243198	hsa-miR-4668-5p	CLIP-seq
MIRT1243199	hsa-miR-4742-3p	CLIP-seq
MIRT1243200	hsa-miR-491-5p	CLIP-seq
MIRT1243201	hsa-miR-513a-5p	CLIP-seq
MIRT1243202	hsa-miR-519d	CLIP-seq
MIRT1243203	hsa-miR-548ah	CLIP-seq
MIRT1243204	hsa-miR-548c-3p	CLIP-seq
MIRT1243205	hsa-miR-625	CLIP-seq
MIRT1243206	hsa-miR-647	CLIP-seq
MIRT1243207	hsa-miR-7	CLIP-seq
MIRT1243208	hsa-miR-922	CLIP-seq
MIRT1243209	hsa-miR-93	CLIP-seq
MIRT2071861	hsa-miR-1299	CLIP-seq
MIRT1243165	hsa-miR-132	CLIP-seq
MIRT1243172	hsa-miR-212	CLIP-seq
MIRT2071862	hsa-miR-3179	CLIP-seq
MIRT1243177	hsa-miR-3190	CLIP-seq
MIRT2071863	hsa-miR-3202	CLIP-seq
MIRT2071864	hsa-miR-3936	CLIP-seq
MIRT2071865	hsa-miR-4257	CLIP-seq
MIRT2071866	hsa-miR-4261	CLIP-seq
MIRT2071867	hsa-miR-4320	CLIP-seq
MIRT1243188	hsa-miR-4426	CLIP-seq
MIRT1243190	hsa-miR-4434	CLIP-seq
MIRT1243193	hsa-miR-4516	CLIP-seq
MIRT1243194	hsa-miR-4531	CLIP-seq
MIRT2071868	hsa-miR-4533	CLIP-seq
MIRT1243195	hsa-miR-4534	CLIP-seq
MIRT1243196	hsa-miR-4647	CLIP-seq
MIRT1243197	hsa-miR-4662b	CLIP-seq
MIRT2071869	hsa-miR-4782-5p	CLIP-seq
MIRT2071870	hsa-miR-4803	CLIP-seq
MIRT2071871	hsa-miR-494	CLIP-seq
MIRT2071872	hsa-miR-516b	CLIP-seq
MIRT1243204	hsa-miR-548c-3p	CLIP-seq
MIRT1243207	hsa-miR-7	CLIP-seq
MIRT2298982	hsa-miR-4643	CLIP-seq
MIRT2298983	hsa-miR-466	CLIP-seq
MIRT2298984	hsa-miR-4789-3p	CLIP-seq
MIRT2595777	hsa-miR-1265	CLIP-seq
MIRT2071861	hsa-miR-1299	CLIP-seq
MIRT1243165	hsa-miR-132	CLIP-seq
MIRT2595778	hsa-miR-15a	CLIP-seq
MIRT2595779	hsa-miR-15b	CLIP-seq
MIRT2595780	hsa-miR-16	CLIP-seq
MIRT2595781	hsa-miR-195	CLIP-seq
MIRT1243168	hsa-miR-200b	CLIP-seq
MIRT1243169	hsa-miR-200c	CLIP-seq
MIRT1243172	hsa-miR-212	CLIP-seq
MIRT2595782	hsa-miR-2392	CLIP-seq
MIRT1243176	hsa-miR-3151	CLIP-seq
MIRT2595783	hsa-miR-3152-3p	CLIP-seq
MIRT1243177	hsa-miR-3190	CLIP-seq
MIRT1243178	hsa-miR-320b	CLIP-seq
MIRT1243179	hsa-miR-320c	CLIP-seq
MIRT1243180	hsa-miR-320d	CLIP-seq
MIRT2595784	hsa-miR-3941	CLIP-seq
MIRT2595785	hsa-miR-424	CLIP-seq
MIRT1243184	hsa-miR-4265	CLIP-seq
MIRT2595786	hsa-miR-4282	CLIP-seq
MIRT1243185	hsa-miR-429	CLIP-seq
MIRT1243186	hsa-miR-4296	CLIP-seq
MIRT2071867	hsa-miR-4320	CLIP-seq
MIRT1243187	hsa-miR-4322	CLIP-seq
MIRT1243188	hsa-miR-4426	CLIP-seq
MIRT1243189	hsa-miR-4429	CLIP-seq
MIRT1243190	hsa-miR-4434	CLIP-seq
MIRT1243191	hsa-miR-4447	CLIP-seq
MIRT1243192	hsa-miR-4472	CLIP-seq
MIRT1243193	hsa-miR-4516	CLIP-seq
MIRT2595787	hsa-miR-4524	CLIP-seq
MIRT1243194	hsa-miR-4531	CLIP-seq
MIRT1243195	hsa-miR-4534	CLIP-seq
MIRT2298982	hsa-miR-4643	CLIP-seq
MIRT1243196	hsa-miR-4647	CLIP-seq
MIRT2298983	hsa-miR-466	CLIP-seq
MIRT1243197	hsa-miR-4662b	CLIP-seq
MIRT1243198	hsa-miR-4668-5p	CLIP-seq
MIRT2595788	hsa-miR-4672	CLIP-seq
MIRT2595789	hsa-miR-4694-3p	CLIP-seq
MIRT2595790	hsa-miR-4703-3p	CLIP-seq
MIRT2595791	hsa-miR-4764-5p	CLIP-seq
MIRT2071869	hsa-miR-4782-5p	CLIP-seq
MIRT2298984	hsa-miR-4789-3p	CLIP-seq
MIRT1243200	hsa-miR-491-5p	CLIP-seq
MIRT2595792	hsa-miR-497	CLIP-seq
MIRT2595793	hsa-miR-503	CLIP-seq
MIRT2071872	hsa-miR-516b	CLIP-seq
MIRT2595794	hsa-miR-548a-5p	CLIP-seq
MIRT2595795	hsa-miR-548ab	CLIP-seq
MIRT2595796	hsa-miR-548ak	CLIP-seq
MIRT2595797	hsa-miR-548b-5p	CLIP-seq
MIRT2595798	hsa-miR-548c-5p	CLIP-seq
MIRT2595799	hsa-miR-548d-5p	CLIP-seq
MIRT2595800	hsa-miR-548h	CLIP-seq
MIRT2595801	hsa-miR-548i	CLIP-seq
MIRT2595802	hsa-miR-548j	CLIP-seq
MIRT2595803	hsa-miR-548k	CLIP-seq
MIRT2595804	hsa-miR-548l	CLIP-seq
MIRT2595805	hsa-miR-548t	CLIP-seq
MIRT2595806	hsa-miR-548w	CLIP-seq
MIRT2595807	hsa-miR-548y	CLIP-seq
MIRT2595808	hsa-miR-559	CLIP-seq
MIRT1243205	hsa-miR-625	CLIP-seq
MIRT2595809	hsa-miR-646	CLIP-seq
MIRT1243206	hsa-miR-647	CLIP-seq
MIRT1243207	hsa-miR-7	CLIP-seq
MIRT1243208	hsa-miR-922	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001951	Process	Intestinal D-glucose absorption	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	8139549
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005884	Component	Actin filament	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005903	Component	Brush border	IEA
GO:0005903	Component	Brush border	ISS
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032432	Component	Actin filament bundle	IBA
GO:0032532	Process	Regulation of microvillus length	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	TAS	8139549
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051639	Process	Actin filament network formation	IBA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS
GO:0060121	Process	Vestibular receptor cell stereocilium organization	IEA
GO:0060121	Process	Vestibular receptor cell stereocilium organization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902896	Process	Terminal web assembly	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1990357	Component	Terminal web	IEA

MIM	HGNC	e!Ensembl
602734	9090	ENSG00000120756

Protein

UniProt ID

Q14651

Protein name

Plastin-1 (Intestine-specific plastin) (I-plastin)

Protein function

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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13833	EF-hand_8	3 → 43	EF-hand domain pair	Domain
PF00036	EF-hand_1	55 → 83	EF hand	Domain
PF00307	CH	122 → 239	Calponin homology (CH) domain	Domain
PF00307	CH	266 → 377	Calponin homology (CH) domain	Domain
PF00307	CH	395 → 505	Calponin homology (CH) domain	Domain
PF00307	CH	516 → 626	Calponin homology (CH) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach. {ECO:0000269|PubMed:8139549}.

Sequence

MENSTTTISREELEELQEAFNKIDIDNSGYVSDYELQDLFKEASLPLPGYKVREIVEKIL
SVADSNKDGKISFEEFVSLMQELKSKDISKTFRKIINKREGITAIGGTSTISSEGTQHSY
SEEEKVAFVNWINKALENDPDCKHLIPMNPNDDSLFKSLADGILLCKMINLSEPDTIDER
AINKKKLTPFTISENLNLALNSASAIGCTVVNIGASDLKEGKPHLVLGLLWQIIKVGLFA
DIEISRNEALIALLNEGEELEELMKLSPEELLLRWVNYHLTNAGWHTISNFSQDIKDSRA
YFHLLNQIAPKGGEDGPAIAIDLSGINETNDLKRAGLMLQEADKLGCKQFVTPADVVSGN
PKLNLAFVANLFNTYPCLHKPNNNDIDMNLLEGESKEERTFRNWMNSLGVNPYINHLYSD
LADALVIFQLYEMIRVPVNWSHVNKPPYPALGGNMKKIENCNYAVELGKNKAKFSLVGIA
GQDLNEGNSTLTLALVWQLMRRYTLNVLSDLGEGEKVNDEIIIKWVNQTLKSANKKTSIS
SFKDKSISTSLPVLDLIDAIAPNAVRQEMIRRENLSDEDKLNNAKYAISVARKIGARIYA
LPDDLVEVKPKMVMTVFACLMGKGLNRIK

Sequence length

629

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
hearing impairment	Hearing impairment	rs1560070780	N/A
Hearing Loss	Hearing loss, autosomal dominant 76	rs1560070780, rs1577876794	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Hearing Loss	Associate	30872814
Inflammation	Associate	30872814
Intellectual Disability	Associate	30872814
Lupus Erythematosus Systemic	Associate	1522211
Mental Disorders	Associate	30872814
Nonsyndromic Deafness	Associate	30872814

PLS1 (plastin 1)