PLS1 - plastin 1 Gene

Also Known as DFNA76

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5357

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

EF-hand_7: EF-hand domain pair (16 - 80)

CH

CH: Calponin homology (CH) domain (127 - 236)

CH

CH: Calponin homology (CH) domain (269 - 375)

CH

CH: Calponin homology (CH) domain (398 - 503)

CH

CH: Calponin homology (CH) domain (521 - 622)

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  • 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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10739 PLS1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PLS1 NCBI