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  2. DNAJB12 - DnaJ heat shock protein family (Hsp40) member B12 Gene

DNAJB12 - DnaJ heat shock protein family (Hsp40) member B12 Gene

中文名称:DnaJ 热休克蛋白家族 (Hsp40) 成员 B12

种属: Homo sapiens

同用名: DJ10

基因 ID: 54788 | 基因类型: protein coding

关于 DNAJB12

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:72,332,863-72,354,919 (from NCBI)

This gene has 6 transcripts (splice variants), 283 orthologues and 11 paralogues. Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues.

功能概要

DNAJB12 属于进化上保守的 DNAJ/HSP40 蛋白家族,它通过刺激 ATP 酶活性来调节分子伴侣活性。 DNAJ 蛋白可能有多达 3 个不同的结构域:一个由 70 个氨基酸组成的保守 J 结构域,通常位于 N 末端;富含甘氨酸/苯丙氨酸 (G/F) 的区域;以及含有 4 个类似于锌指结构域的基序的富含半胱氨酸的结构域 (Ohtsuka 和 Hata,2000 [PubMed 11147971]) 。[OMIM 提供,2008 年 3 月]

DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

DNAJB12 基因产物(4)

mRNA Protein Name
NM_001002762.5 NP_001002762.3 dnaJ homolog subfamily B member 12 isoform 1
NM_001365080.3 NP_001352009.1 dnaJ homolog subfamily B member 12 isoform 2
NM_001365081.3 NP_001352010.1 dnaJ homolog subfamily B member 12 isoform 1
NM_017626.7 NP_060096.4 dnaJ homolog subfamily B member 12 isoform 1
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 Hsp70 protein binding IPI
IPI: 通过物理相互作用推断
21148293 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IDA
IDA: 通过直接分析推断
21148293 GOA
involved in cellular response to misfolded protein IDA
IDA: 通过直接分析推断
21148293 GOA
involved in chaperone cofactor-dependent protein refolding IDA
IDA: 通过直接分析推断
27916661 GOA
involved in protein-containing complex assembly IDA
IDA: 通过直接分析推断
27916661 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
27916661 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
21148293 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

DNAJB12 蛋白结构

DnaJ

DnaJ: DnaJ domain (144 - 205)

DUF1977

DUF1977: Domain of unknown function (DUF1977) (296 - 402)

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

dnaJ homolog subfamily B member 12

DnaJ (Hsp40) homolog, subfamily B, member 12

关联疾病

疾病名称 别名
Niemann-Pick Disease, Type C2

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2

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 DNAJB12 MGD MGI:1931881
Rattus norvegicus DNAJB12 RGD RGD:1359677
Bos taurus DNAJB12 VGNC VGNC:55983
Macaca mulatta DNAJB12 VGNC VGNC:106032