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NBAS - NBAS subunit of NRZ tethering complex Gene

Also Known as NAG; SOPH; ILFS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51594

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SNARE binding	IDA IDA: Inferred from direct assay	19369418	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29929043	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	23828042	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	23828042	GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	19369418	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Dsl1/NZR complex	IDA IDA: Inferred from direct assay	20462495	GOA
part of Dsl1/NZR complex	IPI IPI: Inferred from physical interaction	20462495	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19369418	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NBAS Protein Structure

Nbas_N

Sec39

0
400
800
1200
1600
2000
2371 a.a.

Protein Preferred Names	Protein Names
NBAS subunit of NRZ tethering complex	NAG/BC035112 fusion

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128172	TRPM4-IN-2	Inhibitor	99.17%	Unkown
HY-P4406	Abz-AGLA-Nba		99.71%	Unkown
HY-P4406A	Abz-AGLA-Nba TFA		99.64%	Unkown
HY-178091	Boc-4-NBA-butyl		/	Unkown
HY-RS09051	NBAS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W750643	m-APTA	Substrate	99.54%	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	NBAS	NCBI