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  2. HMCES - 5-hydroxymethylcytosine binding, ES cell specific Gene

HMCES - 5-hydroxymethylcytosine binding, ES cell specific Gene

中文名称:5-羟甲基胞嘧啶结合,ES 细胞特异性

种属: Homo sapiens

同用名: DC12; SRAPD1; C3orf37

基因 ID: 56941 | 基因类型: protein coding

关于 HMCES

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:129,278,832-129,306,186 (from NCBI)

This gene has 8 transcripts (splice variants) and 194 orthologues. Ubiquitous expression in lymph node (RPKM 40.1), testis (RPKM 20.9) and 24 other tissues.

功能概要

启用单链 DNA 结合活性。参与细胞对 DNA 损伤刺激和蛋白质-DNA 共价交联的反应。位于复制叉中。 [由基因组资源联盟提供,2022 年 4 月]

Enables single-stranded DNA binding activity. Involved in cellular response to DNA damage stimulus and protein-DNA covalent cross-linking. Located in replication fork. [provided by Alliance of Genome Resources, Apr 2022]

HMCES 基因产物(6)

mRNA Protein Name
NM_001006109.1 NP_001006109.1 abasic site processing protein HMCES isoform a
NM_001363881.1 NP_001350810.1 abasic site processing protein HMCES isoform b
NM_001370343.1 NP_001357272.1 abasic site processing protein HMCES isoform a
NM_001370344.1 NP_001357273.1 abasic site processing protein HMCES isoform a
NM_001370345.1 NP_001357274.1 abasic site processing protein HMCES isoform c
NM_020187.3 NP_064572.2 abasic site processing protein HMCES isoform a
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 DNA-(abasic site) binding IDA
IDA: 通过直接分析推断
30554877 GOA
NOT enables DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
IDA: 通过直接分析推断
30554877 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30554877 GOA
enables protein-DNA covalent cross-linking activity IDA
IDA: 通过直接分析推断
30554877 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
30554877 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
30554877 GOA
involved in interstrand cross-link repair IDA
IDA: 通过直接分析推断
33321094 GOA
involved in protein-DNA covalent cross-linking repair IDA
IDA: 通过直接分析推断
37519246 GOA
involved in somatic hypermutation of immunoglobulin genes IDA
IDA: 通过直接分析推断
35450882 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in replication fork IDA
IDA: 通过直接分析推断
30554877 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

HMCES 蛋白结构

SRAP

SRAP: SOS response associated peptidase (SRAP) (1 - 264)

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

abasic site processing protein HMCES

5-hydroxymethylcytosine (hmC) binding, ES cell-specific

关联疾病

疾病名称 别名
Brachydactyly, Type A4

Brachymesophalangy Ii And V

Temtamy Type Brachydactyly

Brachydactyly Type A4

BDA4

Brachymesophalangy 2 And 5

Brachydactyly Temtamy Type

Brachydactyly, Temtamy Type

Ruijs-Aalfs Syndrome

Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome

RJALS

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
Felis catus HMCES VGNC VGNC:102606
Rattus norvegicus HMCES RGD RGD:1559800
Mus musculus HMCES MGD MGI:1914053
Macaca mulatta HMCES VGNC VGNC:73436
Bos taurus HMCES VGNC VGNC:29871
Canis familiaris HMCES VGNC VGNC:41705