1. Gene
  2. PRH1 - proline rich protein HaeIII subfamily 1 Gene

PRH1 - proline rich protein HaeIII subfamily 1 Gene

中文名称:富脯氨酸的蛋白质 HaeIII 亚家族 1

种属: Homo sapiens

同用名: PA; Db-s; PRH2; PIF-S; Pr1/Pr2; PRP-1/PRP-2

基因 ID: 5554 | 基因类型: protein coding

关于 PRH1

Cytogenetic location: 12p13.2 Genomic coordinates (GRCh38): 12:10,880,965-11,171,611 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 11 orthologues and 6 paralogues. Restricted expression toward salivary gland (RPKM 9623.1).

功能概要

该基因编码富含脯氨酸的唾液糖蛋白的异质家族成员。编码的前原蛋白在从腮腺和下颌下腺/舌下腺分泌之前经过蛋白水解处理以产生一种或多种成熟的亚型。该基因座的多个不同等位基因包括腮腺等电聚焦变体慢 (PIF-s) 、腮腺酸性蛋白 (Pa) 和双带慢 (Db-s) 亚型。参考基因组编码 Db-s 等位基因。该基因的某些等位基因与龋齿易感性有关。该基因位于 12 号染色体上的一组密切相关的富含脯氨酸的唾液蛋白中。已观察到该基因与相邻基因的共转录。该基因的交替剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2015 年 10 月]

This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

PRH1 基因产物(3)

mRNA Protein Name
NM_001291314.2 NP_001278243.1 salivary acidic proline-rich phosphoprotein 1月2日 isoform a preproprotein
NM_001291315.2 NP_001278244.1 salivary acidic proline-rich phosphoprotein 1月2日 isoform b
NM_001393989.1 NP_001380918.1 salivary acidic proline-rich phosphoprotein 1月2日 isoform a preproprotein
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16203048 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PRH1 蛋白结构

Pro-rich

Pro-rich: Proline-rich (1 - 161)

  • 0
  • 100
  • 166 a.a.
蛋白主名 其他名称

salivary acidic proline-rich phosphoprotein 1/2

parotid acidic protein

PRH1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PRH1 P02810 MUC7 Homo sapiens Q8TAX7
Y2H
16203048
种属内
PRH1 P02810 MUC7 Homo sapiens Q8TAX7 16203048
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity

Saprodontia

Teeth Decayed

Tooth Caries

Tooth Decay

Retinitis Pigmentosa 35

RP35

Retinitis Pigmentosa-35

Retinitis Pigmentosa, Type 35

Ulna And Fibula, Absence Of, With Severe Limb Deficiency

Schinzel Phocomelia Syndrome

Aarrs

Limb/Pelvis-Hypoplasia/Aplasia Syndrome

LPHAS

Schinzel Type Phocomelia

Absence Of Ulna And Fibula With Severe Limb Deficiency

Al-Awadi/Raas-Rothschild Syndrome

Al Awadi-Raas-Rothschild Syndrome

Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

Aplasia/Hypoplasia Of Limbs And Pelvis

Congenital Absence Of Ulna And Fibula

Severe Limb Deficit

Phocomelia, Schinzel Type

Al-Awadi-Raas-Rothschild Syndrome

Ulna And Fibula Absence Of With Severe Limb Deficiency

Limb Pelvis Hypoplasia Aplasia Syndrome

Limb/Pelvis/Uterus-Hypoplasia/Aplasia Syndrome

Ulna And Fibula, Absence Of, With Sever Limb Deficiency

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