1. Gene
  2. UFM1 - ubiquitin fold modifier 1 Gene

UFM1 - ubiquitin fold modifier 1 Gene

中文名称:泛素折叠修饰符 1

种属: Homo sapiens

同用名: HLD14; BM-002; C13orf20

基因 ID: 51569 | 基因类型: protein coding

关于 UFM1

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:38,349,851-38,363,619 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 26.2), endometrium (RPKM 24.1) and 25 other tissues.

功能概要

UFM1 是一种泛素样蛋白,通过 E1 样激活酶 UBA5 (UBE1DC1;MIM 610552) 和 E2 样结合酶 UFC1 (MIM 610554) 以类似于泛素化的方式与靶蛋白结合 (参见 UBE2M;MIM 603173) (Komatsu 等人,2004 [PubMed 15071506]) 。[OMIM 提供,2008 年 12 月]

UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating Enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating Enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]

UFM1 基因产物(5)

mRNA Protein Name
NM_001286703.2 NP_001273632.1 ubiquitin-fold modifier 1 isoform 2
NM_001286704.2 NP_001273633.1 ubiquitin-fold modifier 1 isoform 3
NM_001286705.2 NP_001273634.1 ubiquitin-fold modifier 1 isoform 4
NM_001286706.2 NP_001273635.1 ubiquitin-fold modifier 1 isoform 4
NM_016617.4 NP_057701.1 ubiquitin-fold modifier 1 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 protein binding IPI
IPI: 通过物理相互作用推断
20562859 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
29868776 GOA
involved in negative regulation of protein import into nucleus IMP
IMP: 通过突变表型推断
28393202 GOA
involved in protein K69-linked ufmylation IDA
IDA: 通过直接分析推断
25219498 GOA
involved in protein ufmylation IDA
IDA: 通过直接分析推断
15071506 GOA
involved in protein ufmylation IMP
IMP: 通过突变表型推断
29868776 GOA
involved in regulation of intracellular estrogen receptor signaling pathway IDA
IDA: 通过直接分析推断
25219498 GOA
acts upstream of or within response to endoplasmic reticulum stress IDA
IDA: 通过直接分析推断
23152784 GOA
involved in response to endoplasmic reticulum stress IMP
IMP: 通过突变表型推断
32160526 GOA
involved in reticulophagy IMP
IMP: 通过突变表型推断
32160526 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15071506 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15071506 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

UFM1 蛋白结构

Ufm1

Ufm1: Ubiquitin fold modifier 1 protein (2 - 77)

  • 0
  • 85 a.a.
蛋白主名 其他名称

ubiquitin-fold modifier 1

UFM1 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
UFM1 P61960 KCTD21 Homo sapiens Q4G0X4 32296183
种属内
UFM1 P61960 KCTD21 Homo sapiens Q4G0X4 32296183
种属内
UFM1 P61960 KCTD21 Homo sapiens Q4G0X4 32296183
种属内
UFM1 P61960 S100A6 Homo sapiens P06703 33961781
种属内
UFM1 P61960 S100A6 Homo sapiens P06703 28514442
种属内
UFM1 P61960 INCA1 Homo sapiens Q0VD86 32296183
种属内
UFM1 P61960 INCA1 Homo sapiens Q0VD86 32296183
种属内
UFM1 P61960 INCA1 Homo sapiens Q0VD86 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

UFM1 抗体

目录号 产品名 应用 反应物种
HY-P81832 UFM1 Antibody (YA1577) WB, IHC-P, IP Human, Mouse

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 14

HLD14

Hypomyelinating Leukodystrophy 14

Leukodystrophy, Hypomyelinating, Type 14

Leukodystrophy, Hypomyelinating, 6

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6

Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type

Beukes Familial Hip Dysplasia

BFHD

Cilliers-Beighton Syndrome

Osteoarthropathy, Premature Degenerative, Of Hip

Premature Degenerative Osteoarthropathy Of The Hip

BHD

Beukes Type Hip Dysplasia

Hip Dysplasia Beukes Type

Premature Degenerative Osteoarthropathy

Dysplasia, Hip, Beukes Type

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Developmental And Epileptic Encephalopathy 44

DEE44

Epileptic Encephalopathy, Early Infantile, 44

Eiee44

Developmental And Epileptic Encephalopathy, 44

Early Infantile Epileptic Encephalopathy 44

Encephalopathy, Epileptic, Early Infantile, Type 44

Leukodystrophy

Leukodystrophies

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Canis familiaris UFM1 VGNC VGNC:54385
Mus musculus UFM1 MGD MGI:1915140
Felis catus UFM1 VGNC VGNC:102359
Rattus norvegicus UFM1 RGD RGD:1304890
Bos taurus UFM1 VGNC VGNC:107013
Macaca mulatta UFM1 VGNC VGNC:106310
Others UFM1 NCBI