Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

NBAS

contributors: mct/npt - updated : 21-08-2015

HGNC name	neuroblastoma amplified sequence
HGNC id	15625

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ILFS2 infantile liver failure syndrome 2 SOPH short stature, optic nerve atrophy, and Pelger-Huet anomaly
Location	2p24.3      Physical location : 15.307.031 - 15.701.454
Synonym name	neuroblastoma amplified gene
Synonym symbol(s)	FLJ40407, DKFZP586G1219, NAG, SOPH

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
text	5' end of the gene located 30 kb telomeric to DDX1
STRUCTURE	394.42 kb     52 Exon(s)

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015909 52 - 7299 NP_056993 268 2371 - Scott (2003)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland           pancreas           thyroid       highly Lymphoid/Immune lymph node       highly nervous brain diencephalon       Reproductive female system breast mammary gland   highly   male system testis       Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	heart, kidney, lung, liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal sequence containing a leucine zipper motif
	three putative transmembrane helices
	an endoplasmic reticulum signal sequence
	two peroxisomal targeting signals
	two clusters of nuclear localization signals
	one within the N-terminal sequence
	the other within the common C-terminal sequence half

HOMOLOGY

Homologene

FAMILY

neuroblastoma-amplified protein family

CATEGORY

RNA associated , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus,nucleolus

basic FUNCTION	structural constituent of ribosome
	DHX34 and NBAS act in concert with core nonsense-mediated mRNA decay (NMD) factors to co-regulate a large number of endogenous RNA targets
	RINT1 and NBAS, as part of the NRZ complex, do play a role in docking and fusion of transport vesicles in the trans-Golgi network as a component of an endoplasmic reticulum (ER) tethering complex which binds target SNAREs at the ER

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ILFS2 , SOPH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification --over   in neuroblastoma, low stage in MYCN-amplified tumours tumoral   amplification     MYCN amplicon, coamplified with N-Myc tumoral   translocation     fused with ELMO1 in translocation, t(2;7)(p24.3;p14.2), in a case of acute myeloid leukemia transformed from myelodysplastic syndrome (Fujita 2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS