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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 (NBAS Subunit Of NRZ Tethering Complex) is a Protein Coding gene. Diseases associated with NBAS include Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly and Infantile Liver Failure Syndrome 2. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IDA | 19369418 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 19369418 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Golgi-to-ER retrograde transport | ||
2 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000956 | nuclear-transcribed mRNA catabolic process | IMP | 23828042 |
GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | IEA,TAS | -- |
GO:0015031 | protein transport | IEA | -- |
GO:2000623 | negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | IMP | 23828042 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | ||||||||||||||
SP3: | - | - | |||||||||||||
SP4: | - | - | |||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NBAS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NBAS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NBAS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nbas 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NBAS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NBAS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NBAS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nbas 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nbas 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | smgl-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708451 | Benign: not provided | 15,474,318(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
709138 | Conflicting Interpretations: not provided | 15,402,172(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
710880 | Benign: not provided | 15,468,413(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
712260 | Benign: not provided | 15,292,717(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
712261 | Benign: not provided | 15,488,890(-) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv612n67 | CNV | gain | 20364138 |
dgv613n67 | CNV | gain | 20364138 |
esv1243706 | CNV | insertion | 17803354 |
esv1330669 | CNV | insertion | 17803354 |
esv2617488 | CNV | insertion | 19546169 |
esv2719726 | CNV | deletion | 23290073 |
esv2759029 | CNV | loss | 17122850 |
esv2762245 | CNV | loss | 21179565 |
esv3583652 | CNV | loss | 25503493 |
esv3589906 | CNV | loss | 21293372 |
esv3589910 | CNV | loss | 21293372 |
esv3891581 | CNV | loss | 25118596 |
esv6386 | CNV | gain | 19470904 |
nsv1003654 | CNV | loss | 25217958 |
nsv1010896 | CNV | loss | 25217958 |
nsv1110932 | OTHER | inversion | 24896259 |
nsv472604 | CNV | novel sequence insertion | 20440878 |
nsv475182 | CNV | novel sequence insertion | 20440878 |
nsv477856 | CNV | novel sequence insertion | 20440878 |
nsv515567 | CNV | gain+loss | 19592680 |
nsv819028 | CNV | gain | 19587683 |
nsv961384 | CNV | duplication | 23825009 |
nsv998383 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
short stature, optic nerve atrophy, and pelger-huet anomaly |
|
|
infantile liver failure syndrome 2 |
|
|
fever-associated acute infantile liver failure syndrome |
|
|
interstitial lung and liver disease |
|
|
pelger-huet anomaly |
|
|