1. Gene
  2. NUP107 - nucleoporin 107 Gene

NUP107 - nucleoporin 107 Gene

中文名称:核孔蛋白 107

种属: Homo sapiens

同用名: ODG6; NUP84; NPHS11; ODG6; GAMOS7

基因 ID: 57122 | 基因类型: protein coding

关于 NUP107

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:68,686,978-68,745,809 (from NCBI)

This gene has 13 transcripts (splice variants), 204 orthologues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 14.7), lymph node (RPKM 14.2) and 25 other tissues.

功能概要

该基因编码核孔蛋白家族的一个成员。该蛋白质位于核边缘,是核孔复合体 (NPC) 的重要组成部分。所有进入或离开细胞核的分子要么扩散通过 NPC,要么由 NPC 主动运输。已观察到该基因的替代转录剪接变体,但尚未彻底表征。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

NUP107 基因产物(2)

mRNA Protein Name
NM_001330192.2 NP_001317121.1 nuclear pore complex protein Nup107 isoform 2
NM_020401.4 NP_065134.1 nuclear pore complex protein Nup107 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
11564755 GOA
enables structural constituent of nuclear pore IDA
IDA: 通过直接分析推断
11684705 GOA
enables structural constituent of nuclear pore IMP
IMP: 通过突变表型推断
15229283 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in female gonad development IMP
IMP: 通过突变表型推断
26485283 GOA
involved in mRNA export from nucleus IDA
IDA: 通过直接分析推断
11684705 GOA
involved in nephron development IMP
IMP: 通过突变表型推断
30179222 GOA
involved in nuclear pore complex assembly IMP
IMP: 通过突变表型推断
15229283 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with kinetochore IDA
IDA: 通过直接分析推断
17363900 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
24315095 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
12802065 GOA
located in nuclear periphery IDA
IDA: 通过直接分析推断
15229283 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
11564755 GOA
part of nuclear pore outer ring IDA
IDA: 通过直接分析推断
17360435 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

NUP107 蛋白结构

Nup84_Nup100

Nup84_Nup100: Nuclear pore protein 84 / 107 (208 - 910)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 925 a.a.
蛋白主名 其他名称

nuclear pore complex protein Nup107

nucleoporin 107kDa

NUP107 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
NUP107 P57740 NUP133 Homo sapiens Q8WUM0 35271311
种属内
NUP107 P57740 NUP133 Homo sapiens Q8WUM0 30179222
种属内
NUP107 P57740 NUP133 Homo sapiens Q8WUM0 11564755
种属内
NUP107 P57740 NUP133 Homo sapiens Q8WUM0 26496610
种属内
NUP107 P57740 NUP133 Homo sapiens Q8WUM0 27194810
种属间: 跨种属相互作用 种属内: 同种属相互作用

NUP107 抗体

目录号 产品名 应用 反应物种
HY-P81715 NUP107 Antibody (YA1460) WB Human, Rat

关联疾病

疾病名称 别名
Ovarian Dysgenesis 6

ODG6

Nephrotic Syndrome, Type 11

NPHS11

Nephrotic Syndrome Type 11

Nephrotic Syndrome 11

Galloway-Mowat Syndrome 7

GAMOS7

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development

46,Xx Gonadal Dysgenesis

SRXX1

46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

46,Xx Testicular Dsd

Xx Male Syndrome

46,Xx Complete Gonadal Dysgenesis

46,Xx Pure Gonadal Dysgenesis

Follicular Stimulating Hormone-Resistant Ovaries

Hypergonadotropic Ovarian Dysgenesis

Ovotesticular Disorder Of Sex Development

46,Xx Sex Reversal, Sry-Positive

Xx Male, Sry-Positive

46xx Sex Reversal 1

46, Xx Gonadal Sex Reversal

Xx Sex Reversal

46,Xx Ovarian Dysgenesis

Fsh-Ro

Xx Female Gonadal Dysgenesis

Xx-Gd

46,Xx Ovotesticular Disorder Of Sex Development

46,Xx Ovotesticular Dsd

De La Chapelle Syndrome

Xx, Male Syndrome

46,Xx Gonadal Dysgenesis Complete Sry-Positive

46,Xx Sex Reversal Sry-Positive

46,Xx True Hermaphroditism Sry-Positive

Ovotesticular Dsd

Xx Male Sry-Positive

Ovotesticular Disorders Of Sex Development

46, Xx Testicular Disorders Of Sex Development

Resistant Ovary Syndrome

Dysgenetic Ovaries

Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

True Hermaphroditism

Ovotestis

True Hermaphrodite

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Uterine Hypoplasia
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Frasier Syndrome

FS

Polymicrogyria

Pmg

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

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
Rattus norvegicus NUP107 RGD RGD:621160
Bos taurus NUP107 VGNC VGNC:32350
Canis familiaris NUP107 VGNC VGNC:44044
Macaca mulatta NUP107 VGNC VGNC:75488
Mus musculus NUP107 MGD MGI:2143854
Felis catus NUP107 VGNC VGNC:63918