PLS1 - plastin 1 Gene

Homo sapiens

Also known as DFNA76

Gene ID: 5357 | Gene type: protein coding

About PLS1

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:142,596,393-142,713,664 (from NCBI)

This gene has 12 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 111.8), duodenum (RPKM 68.2) and 5 other tissues.

Summary

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 gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]

PLS1 Products(3)

mRNA	Protein	Name
NM_001145319.2	NP_001138791.1	plastin-1
NM_001172312.2	NP_001165783.1	plastin-1
NM_002670.3	NP_002661.2	plastin-1

PLS1 Protein Structure

EF-hand_7

0
100
200
300
400
500
629 a.a.

Protein Preferred Names

Protein Names

plastin-1

I plastin

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 76

DFNA76

Deafness, Autosomal Dominant, 76

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Neurodevelopmental Disorder With Involuntary Movements

NEDIM

Balanitis Xerotica Obliterans

Penile Lichen Sclerosus

Penile Leukoplakia

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10739	PLS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PLS1	VGNC	VGNC:110348
Mus musculus	PLS1	MGD	MGI:104809
Bos taurus	PLS1	VGNC	VGNC:33051
Felis catus	PLS1	VGNC	VGNC:68912
Canis familiaris	PLS1	VGNC	VGNC:44711
Rattus norvegicus	PLS1	RGD	RGD:1307142