1. Gene
  2. PRB4 - proline rich protein BstNI subfamily 4 Gene

PRB4 - proline rich protein BstNI subfamily 4 Gene

中文名称:富脯氨酸蛋白 BstNI 亚家族 4

种属: Homo sapiens

同用名: Po

基因 ID: 5545 | 基因类型: protein coding

关于 PRB4

Cytogenetic location: 12p13.2 Genomic coordinates (GRCh38): 12:11,307,077-11,310,436 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 6 orthologues and 6 paralogues. Restricted expression toward salivary gland (RPKM 1203.4).

功能概要

该基因编码基本的、富含脯氨酸的人类唾液糖蛋白异质家族的成员。编码的前原蛋白在从腮腺分泌之前经过蛋白水解加工以产生一种或多种成熟肽。已经鉴定出该基因的多个等位基因在串联重复序列的长度上表现出变化。参考基因组编码“小”等位基因。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。可变剪接导致编码不同亚型的多个转录变体,这些亚型可能经历类似的蛋白水解加工。[RefSeq 提供,2015 年 11 月]

This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature Peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the "Small" allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]

PRB4 基因产物(2)

mRNA Protein Name
NM_001261399.3 NP_001248328.1 basic salivary proline-rich protein 4 isoform 2 preproprotein
NM_002723.6 NP_002714.2 basic salivary proline-rich protein 4 isoform 1 preproprotein

PRB4 蛋白结构

Pro-rich

Pro-rich: Proline-rich (1 - 159)

Pro-rich

Pro-rich: Proline-rich (133 - 241)

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

basic salivary proline-rich protein 4

BstNI type basic salivary proline-rich protein 4

关联疾病

疾病名称 别名
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia

HH6

Kallmann Syndrome 6

Kal6

Hypogonadotropic Hypogonadism, Type 6 With/Without Anosmia

Head And Neck Cancer

Head And Neck Neoplasm

Head And Neck Tumours

Head/Neck Neoplasm

Tumor Of Head And Neck

Head And Neck Neoplasms

Hnc

Cancer, Head/Neck

Bilateral Renal Aplasia
Hypopharynx Cancer

Hypopharyngeal Cancer

Malignant Neoplasm Of Hypopharynx

Hypopharyngeal Neoplasms

Hypopharyngeal Carcinoma

Malignant Hypopharyngeal Tumor

Malignant Tumor Of Hypopharynx

Malignant Tumour Of Hypopharynx

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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