2. Gene
  3. PRELP - proline and arginine rich end leucine rich repeat protein Gene

PRELP - proline and arginine rich end leucine rich repeat protein Gene

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

中文名称：富脯氨酸和精氨酸的末端富亮氨酸重复序列蛋白

种属: Homo sapiens

同用名: MST161; SLRR2A; MSTP161

基因 ID: 5549 | 基因类型: protein coding

关于 PRELP

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,475,806-203,491,352 (from NCBI)

This gene has 1 transcript (splice variant), 199 orthologues and 10 paralogues. Broad expression in ovary (RPKM 42.7), fat (RPKM 41.5) and 22 other tissues.

功能概要

该基因编码的蛋白质是一种富含亮氨酸的重复蛋白，存在于结缔组织细胞外基质中。这种蛋白质起到将基底膜锚定到下面的结缔组织的分子的作用。这种蛋白质已被证明可将 I 型胶原蛋白与基底膜结合，并将 II 型胶原蛋白与软骨结合。它还结合基底膜硫酸乙酰肝素蛋白多糖珠光素。这种蛋白质被认为参与了 Hutchinson-Gilford 早衰症 (HGP) 的发病机制，据报道，这种早衰症在基底膜和软骨中缺乏胶原蛋白的结合。已经观察到编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I Collagen to basement membranes and type II Collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of Collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

PRELP 基因产物(2)

mRNA Protein Name
NM_002725.4 NP_002716.1 prolargin precursor
NM_201348.2 NP_958505.1 prolargin precursor

PRELP 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (72 - 101)

LRR_8

LRR_8: Leucine rich repeat (102 - 162)

LRR_8

LRR_8: Leucine rich repeat (171 - 231)

LRR_8

LRR_8: Leucine rich repeat (245 - 303)

LRR_1

LRR_1: Leucine Rich Repeat (312 - 327)

(350 - 363)

  • 0
  • 100
  • 200
  • 300
  • 382 a.a.
蛋白主名 其他名称

prolargin

55 kDa leucine-rich repeat protein of articular cartilage

重组 PRELP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75980 PRELP Protein, Human (HEK293) P51888/NP_002716.1 (Q21-I382) ≥95%
HY-P75981 PRELP Protein, Human (HEK293, Fc) P51888 (Q21-I382) ≥95%

关联疾病

疾病名称 别名
Bladder Carcinoma In Situ

Carcinoma In Situ Of Bladder

Bladder Ca In Situ

Flat Cis Of The Urinary Bladder

Carcinoma In Situ Of Urinary Bladder
Retinitis Pigmentosa 23

RP23

Retinitis Pigmentosa-23

Retinitis Pigmentosa, Type 23

Rp23 Gene
Cornea Plana

Flat Cornea
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Weissenbacher-Zweymuller Syndrome

Wzs

Pierre Robin Syndrome With Fetal Chondrodysplasia

OSMEDA

Weissenbacher-Zweymüller Syndrome

Heterozygous Osmed

Stickler Syndrome, Type 3

Osmed, Heterozygous

Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

Stickler Syndrome, Type Iii, Formerly

Stl3, Formerly

Piere-Robin Syndrome

Pierre Robin Malformation

Heterozygous Otospondylomegaepiphyseal Dysplasia

Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

Ad Osmed

Stickler Syndrome Type 3

Stickler Syndrome, Non-Ocular Type

Stickler-Like Syndrome

Stickler Syndrome 3

Stickler Syndrome Non-Ocular Type

Stickler Syndrome Type Iii

Stl3

Weissenbacher-Zweymueller Syndrome

Stickler Syndrome, Type Iii

Pierre Robin Syndrome

Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Stromal Dystrophy
Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease

2p21 Microdeletion Syndrome

HCS

Homozygous 2p16 Deletion Syndrome, Formerly

2p21 Deletion Syndrome

Del(2)(P21)

Monosomy 2p21

Atypical Hypotonia-Cystinuria Syndrome

Atypical Hcs
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11082 PRELP Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20086 Prelp Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26589 Prelp Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PRELP VGNC VGNC:33309
Felis catus PRELP VGNC VGNC:69040
Rattus norvegicus PRELP RGD RGD:620226
Mus musculus PRELP MGD MGI:2151110
Macaca mulatta PRELP VGNC VGNC:76395
Canis familiaris PRELP VGNC VGNC:44959
Others PRELP NCBI
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