1. Gene
  2. CDHR5 - cadherin related family member 5 Gene

CDHR5 - cadherin related family member 5 Gene

中文名称:钙粘蛋白相关家族成员 5

种属: Homo sapiens

同用名: MLPCDH; MUCDHL; MUPCDH; MU-PCDH

基因 ID: 53841 | 基因类型: protein coding

关于 CDHR5

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:616,583-624,955 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 97 orthologues and 33 paralogues. Biased expression in small intestine (RPKM 219.8), duodenum (RPKM 209.0) and 3 other tissues.

功能概要

该基因是一种新型粘蛋白样基因,是钙粘蛋白超家族的一员。虽然编码的非多态性串联重复序列富含类似于粘蛋白的脯氨酸、丝氨酸和苏氨酸,但该基因还包含编码所有钙粘蛋白中发现的钙结合基序的序列。杂合胞外区的作用和该蛋白的具体功能尚未确定。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2010 年 1 月]

This gene is a novel mucin-like gene that is a member of the Cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to Mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all Cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

CDHR5 基因产物(3)

mRNA Protein Name
NM_001171968.3 NP_001165439.2 cadherin-related family member 5 isoform 4 precursor
NM_021924.5 NP_068743.3 cadherin-related family member 5 isoform 1 precursor
NM_031264.5 NP_112554.3 cadherin-related family member 5 isoform 3 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-catenin binding IPI
IPI: 通过物理相互作用推断
22202456 GOA
enables cell adhesion molecule binding IDA
IDA: 通过直接分析推断
24725409 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24725409 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brush border assembly IDA
IDA: 通过直接分析推断
32209652 GOA
involved in intermicrovillar adhesion IMP
IMP: 通过突变表型推断
24725409 GOA
involved in regulation of microvillus length IMP
IMP: 通过突变表型推断
24725409 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
24725409 GOA
located in brush border membrane IDA
IDA: 通过直接分析推断
24725409 GOA
located in microvillus IDA
IDA: 通过直接分析推断
32209652 GOA
located in microvillus membrane IDA
IDA: 通过直接分析推断
24725409 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24725409 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
蛋白主名 其他名称

cadherin-related family member 5

differentiation-associated catenin regulator

关联疾病

疾病名称 别名
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CDHR5 MGD MGI:1919290
Bos taurus CDHR5 VGNC VGNC:27112
Felis catus CDHR5 VGNC VGNC:68359
Rattus norvegicus CDHR5 RGD RGD:620504
Macaca mulatta CDHR5 VGNC VGNC:71158