2. Gene
  3. PLS1 - plastin 1 Gene

PLS1 - plastin 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：塑蛋白 1

种属: Homo sapiens

同用名: DFNA76

基因 ID: 5357 | 基因类型: protein coding

关于 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.

功能概要

Plastins 是一个肌动蛋白结合蛋白家族，在整个真核生物进化过程中都是保守的，并在高等真核生物的大多数组织中表达。在人类中，已鉴定出两种普遍存在的塑化蛋白亚型 (L 和 T) 。由该基因编码的蛋白质是第三种不同的 plastin 异构体，它在小肠中以高水平特异性表达。已发现该基因的 5' UTR 不同但编码相同蛋白质的选择性剪接转录物变体。在 11 号染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 2 月]

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 基因产物(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 蛋白结构

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)

  • 0
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  • 200
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  • 500
  • 629 a.a.
蛋白主名 其他名称

plastin-1

I plastin

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-N15352 C20 Sphingomyelin (d18:1/20:1) / 否
HY-RS10739 PLS1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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