NBAS - NBAS subunit of NRZ tethering complex Gene

中文名称：NRZ 束缚复合物的 NBAS 亚基

种属: Homo sapiens

同用名: NAG; SOPH; ILFS2

基因 ID: 51594 | 基因类型: protein coding

关于 NBAS

Cytogenetic location: 2p24.3 Genomic coordinates (GRCh38): 2:14,778,909-15,561,334 (from NCBI)

This gene has 20 transcripts (splice variants), 207 orthologues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 7.5) and 25 other tissues.

功能概要

该基因编码的蛋白质具有两个亮氨酸拉链结构域、一个核糖体蛋白 S14 特征结构域和一个 Sec39 样结构域。该蛋白质被认为参与高尔基体到内质网的运输。该基因的突变与身材矮小、视神经萎缩和 Pelger-Huet 异常有关。[RefSeq 提供，2012 年 10 月]

This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]

NBAS 基因产物(1)

mRNA	Protein	Name
NM_015909.4	NP_056993.2	NBAS subunit of NRZ tethering complex

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 SNARE binding	IDA IDA: 通过直接分析推断	19369418	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	29929043	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: 通过突变表型推断	23828042	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: 通过突变表型推断	23828042	GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP IMP: 通过突变表型推断	19369418	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Dsl1/NZR complex	IDA IDA: 通过直接分析推断	20462495	GOA
part of Dsl1/NZR complex	IPI IPI: 通过物理相互作用推断	20462495	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	19369418	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

NBAS 蛋白结构

Nbas_N

Sec39

0
400
800
1200
1600
2000
2371 a.a.

蛋白主名

其他名称

NBAS subunit of NRZ tethering complex

NAG/BC035112 fusion

关联疾病

疾病名称

别名

Infantile Liver Failure Syndrome 2

ILFS2

Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly

Soph Syndrome	SOPH
Short Stature With Optic Atrophy And Pelger-Huët Anomaly Syndrome	Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome
Stature, Short, Optic Nerve Atrophy, And Pelger-Huet Anomaly

Fever-Associated Acute Infantile Liver Failure Syndrome

Infantile Liver Failure Syndrome

Infantile Liver Failure

Pelger-Huet Anomaly

PHA	Pelger-Huët Anomaly
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities	Pelger Huet Anomaly
Pelger-Huet Nuclear Anomaly

Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins	Transient Infantile Liver Failure
LFIT	Acute Infantile Liver Failure
Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins	Liver Failure, Transient Infantile
Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect	Liver Failure, Acute Infantile
Failure, Liver, Transient, Infantile

Acrofrontofacionasal Dysostosis

Acrofrontofacionasal Dysostosis Syndrome	Richieri-Costa-Colletto Syndrome
Affn Dysostosis	Affn Dysostosis 1
Acro Fronto Facio Nasal Dysostosis	Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly
Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Conduct Disorder

Dysostosis

Dysostoses

Munchausen By Proxy

Munchausen Syndrome By Proxy	Munchausen By Proxy Syndrome
Münchausen Syndrome By Proxy

Nasal Cavity Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Nasal Cavity

Squamous Cell Carcinoma Of The Nasal Cavity

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Nevo Syndrome	Eds Vi
Ehlers-Danlos Syndrome, Type Vi	Eds Via
Ehlers-Danlos Syndrome Type 6	EDSKSCL1
Eds6	Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Ehlers-Danlos Syndrome	Cutis Hyperelastica
Ehlers-Danlos Syndrome Type 6a	Ehlers-Danlos Syndrome Oculoscoliotic Type
Kyphoscoliotic Eds	Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Lysyl Hydroxylase-Deficient Eds
Ocular-Scoliotic Eds	Keds
Keds-Plod1	Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type	Ehlers-Danlos Syndrome, Type Via, Formerly
Eds6a, Formerly	Eds 6
Eds, Kyphoscoliotic Type	Eds, Oculoscoliotic Type
Ehlers-Danlos Syndrome, Kyphoscoliosis Type	Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Ehlers-Danlos Syndrome, Oculoscoliotic Type	Eds6a
Ehlers-Danlos Syndrome 6	Ehlers-Danlos Syndrome Kyphoscoliotic Type

Separation Anxiety Disorder

Separation Anxiety Disorder Of Childhood

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-128172	TRPM4-IN-2	Inhibitor	99.21%	否
HY-P4406	Abz-AGLA-Nba		/	否
HY-RS09051	NBAS Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	NBAS	VGNC	VGNC:81691
Felis catus	NBAS	VGNC	VGNC:82880
Rattus norvegicus	NBAS	RGD	RGD:1585140
Canis familiaris	NBAS	VGNC	VGNC:81690
Mus musculus	NBAS	MGD	MGI:1918419
Macaca mulatta	NBAS	VGNC	VGNC:96557

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