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  2. CENPL - centromere protein L Gene

CENPL - centromere protein L Gene

中文名称:着丝粒蛋白 L

种属: Homo sapiens

同用名: CENP-L; C1orf155; dJ383J4.3

基因 ID: 91687 | 基因类型: protein coding

关于 CENPL

Cytogenetic location: 1q25.1 Genomic coordinates (GRCh38): 1:173,799,550-173,824,883 (from NCBI)

This gene has 10 transcripts (splice variants) and 203 orthologues. Broad expression in testis (RPKM 4.2), bone marrow (RPKM 2.4) and 22 other tissues.

功能概要

CENPL 是 CENPH (MIM 605607) -CENPI (MIM 300065) 相关着丝粒复合体的一个亚基,其将 CENPA (MIM 117139) 靶向着丝粒,并且是适当的着丝粒功能和有丝分裂进程所必需的 (Okada 等人,2006 年) [PubMed 16622420].[OMIM 提供,2008 年 3 月]

CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]

CENPL 基因产物(13)

mRNA Protein Name
NM_001127181.3 NP_001120653.1 centromere protein L isoform 1
NM_001171182.2 NP_001164653.1 centromere protein L isoform 2
NM_001387284.1 NP_001374213.1 centromere protein L isoform 1
NM_001387285.1 NP_001374214.1 centromere protein L isoform 1
NM_001387286.1 NP_001374215.1 centromere protein L isoform 1
NM_001387287.1 NP_001374216.1 centromere protein L isoform 2
NM_001387288.1 NP_001374217.1 centromere protein L isoform 2
NM_001387289.1 NP_001374218.1 centromere protein L isoform 2
NM_001387290.1 NP_001374219.1 centromere protein L isoform 2
NM_001387291.1 NP_001374220.1 centromere protein L isoform 3
NM_001387292.1 NP_001374221.1 centromere protein L isoform 4
NM_001387293.1 NP_001374222.1 centromere protein L isoform 4
NM_033319.4 NP_201576.1 centromere protein L isoform 2
基因本体论
  • 分子功能
  • 细胞组分
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
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of inner kinetochore IPI
IPI: 通过物理相互作用推断
36085283 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

CENPL 蛋白结构

CENP-L

CENP-L: Kinetochore complex Sim4 subunit Fta1 (176 - 325)

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

centromere protein L

interphase centromere complex protein 33

CENPL 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
CENPL Q8N0S6 FAM9B Homo sapiens Q8IZU0 25416956
种属内
CENPL Q8N0S6 FAM9B Homo sapiens Q8IZU0 25416956
种属内
CENPL Q8N0S6 FAM9B Homo sapiens Q8IZU0 25416956
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
Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)

Villous Adenocarcinoma
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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
Macaca mulatta CENPL VGNC VGNC:70990
Canis familiaris CENPL VGNC VGNC:39107
Rattus norvegicus CENPL RGD RGD:1311868
Bos taurus CENPL VGNC VGNC:27180
Mus musculus CENPL MGD MGI:1917704
Felis catus CENPL VGNC VGNC:60757