| NBPF26 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NBPF26 , NBPF member 26 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | HomoloGene: 41035 GeneCards: NBPF26 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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NBPF26, or Neuroblastoma breakpoint family member 26, is a protein encoded by the NBPF26 gene in Homo sapiens. The alias for NBPF26 is notch 2 N-terminal like R (NOTCH2NLR). [3] NBPF26 encodes 13 Olduvai domains, which are thought to contribute to the rapid expansion of the neocortex in humans. [4]
The NBPF26 gene is located on the plus strand of chromosome 1 (1p11.2) from 120,723,945 to 120,842,229, spanning 118,285 base pairs. NOTCH2NLR is an alias of NBPF26 and overlaps with beginning of NBPF26's coding sequence.
Within the genomic neighborhood of human NBPF26, phosphodiesterase 4D interacting protein-like pseudogene 2 (PDE4DIPP2), NOTCH2NLR, Rosellinia necatrix victorivirus 1-19 (RnVV1-19), and tRNA-Asn (anticodon GTT) 7-1 (TRN-GTT7-1) can be found.
NBPF26 encodes three isoform variants shown in the table below. Isoform one is the longest variant and spans 6,891 base pairs. [5]
| Isoform | Nucleotide Accession # | mRNA Length (bp) | Protein Accession # | Protein Length (aa) | Molecular Weight (kDa) |
|---|---|---|---|---|---|
| 1 | NM_001405520.1 | 6,891 | NP_001392449.1 | 1,673 | 190 |
| 2 | NM_001351372.2 | 6,666 | NP_001338301.2 | 1,598 | 182 |
| 3 | NM_001395637.2 | 6,216 | NP_001382566.1 | 1448 | 165 |
NBPF26 isoform one has a predicted molecular weight of 190 kDa and an isoelectric point of 4.6. [7] Relative to other proteins, NBPF26 is rich in glutamic acid, glutamine, and cysteine, and poor in isoleucine. [8] Two positive charge clusters, spanning 22 amino acids, are located at positions 1,241-1,262 and 1,560-1,581.
Five EGF-like domains and one calcium-binding EGF-like domain are encoded in NBPF26. [9]
NBPF26 also encodes 13 Olduvai domains. [10] Positions and sequences of Conserved 1-3 (Con1-3) and Human lineage-specific 1-3 (HLS1-3) Olduvai clades are shown in the table below.
| Clade | Position (aa) | Sequence |
|---|---|---|
| Con1 | 442-505 | EKVLESSAPREVQKTEESKVPEDSLEECAITCSNSHGPCDSNQPHKNIKITFEEDEVNSTLVVD |
| Con1 | 713-775 | EKVQKSSAPREMQKAEEKEVPEDSLEECAITCSNSHGPYDCNQPHRKTKITFEEDKVDSTLIG |
| Con2 | 799-862 | EEKGPVSPRNLQESEEEEVPQESWDEGYSTLSIPPEMLASYKSYSSTFHSLEEQQVCMAVDIG |
| HLS1 | 871-937 | KEDHEATGPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYVLEQQRVGLAVDMD |
| HLS1 | 946-1,012 | EEDQDPSCPRLSGELLDEKEPEVLQESLDRCYSTPSGCLELTDSCQPYRSAFYILEQQRVGLAVDMD |
| HLS1 | 1,021-1,087 | EEDQDPSCPRLSGELLDEKEPEVLQESLDRCYSTPSGCLELTDSCQPYRSAFYILEQQRVGLAVDMD |
| HLS2 | 1,096-1,162 | EEDQDPSCPRLSRELLDEKEPEVLQDSLGRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLALDVD |
| HLS3 | 1,171-1,237 | EEDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSLDV |
| HLS1 | 1,265-1331 | EEDQNPPCPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYILEQQRVGLAVDMD |
| HLS3 | 1,340-1,406 | EEDQDPSCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSLDVG |
| HLS2 | 1,415-1,481 | EEDQDPSCPRLSRELLDEKEPEVLQDSLGRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLALDVD |
| HLS3 | 1,490-1,556 | EEDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSLDVG |
| Con3 | 1,584-1,650 | EEDQNPPCPRLNSMLMEVEEPEVLQDSLDICYSTPSMYFELPDSFQHYRSVFYSFEEEHISFALYVD |
NBPF26 is phosphorylated at amino acids 46, 48, 97, and 228. [11] [12] In addition, NBPF26 is predicted to undergo sulfonation, C-mannosylation, N-glycosylation, and O-glycosylation. [13] [14] [15] [16] Three furin cleavage sites are found at amino acid positions 379, 1252, and 1571. [17]
NBPF26 is predicted to interact with Estrogen receptor 1 (ESR1), APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), lysine (K)-specific demethylase 1A (KDM1A), trans-golgi network protein 2 (TGOLN2), and tripartite motif containing 25 (TRIM25). [18] [19]
Distant orthologs for human NBPF26 can be found in primates, birds, reptiles, amphibians, fish, and some invertebrates. Select orthologs are shown in the table below.
| Class | Genus and Species | Common name | Gene name | Accession # | Length (aa) | Identity (%) | Similarity (%) |
|---|---|---|---|---|---|---|---|
| Mammalia | Pan troglodytes | Chimpanzee | NBPF14 | XP_054958524 | 1,615 | 53.9 | 57.8 |
| Mammalia | Gorilla gorilla gorilla | Gorilla | NBPF12 | XP_055212742.1 | 2,428 | 54.3 | 56.0 |
| Mammalia | Mus musculus | House Mouse | NOTCH2 | NP_035058.2 | 2,473 | 16.0 | 21.2 |
| Mammalia | Enhydra lutris kenyoni | Northern Sea Otter | NBPF26 | XP_022351917.1 | 2,358 | 12.3 | 21.6 |
| Aves | Dryobates pubescens | Downy woodpecker | NOTCH2 | XP_054021673.1 | 2,453 | 20.1 | 29.7 |
| Aves | Antrostomus carolinensis | Chuck-will's-widow | NOTCH2 | XP_010174161 | 2,401 | 19.1 | 28.5 |
| Aves | Strigops habroptila | Owl Parrot | NOTCH2 | XP_030350503.1 | 2,432 | 15.6 | 22.4 |
| Aves | Anser cygnoides | Swan goose | NBPF26 | XP_047936201.1 | 2,359 | 13.7 | 24.1 |
| Reptilia | Trachemys scripta elegans | Red-eared slider | NOTCH2 | XP_034634874.1 | 2,397 | 20.0 | 29.8 |
| Reptilia | Alligator mississippiensis | American alligator | NOTCH2 | XP_006260017.1 | 2,435 | 16.7 | 24.2 |
| Reptilia | Podarcis raffonei | Aeolian wall lizard | NOTCH1 | XP_053230981.1 | 2,531 | 14.6 | 22.8 |
| Reptilia | Pseudonaja textilis | Eastern brown snake | NOTCH3 | XP_026552021.1 | 2,416 | 14.3 | 21.3 |
| Amphibia | Spea bombifrons | Plains spadefoot toad | NOTCH2L | XP_053317909.1 | 2,419 | 17.0 | 25.7 |
| Amphibia | Xenopus laevis | African clawed frog | NOTCH2 | XP_018114267.1 | 2,450 | 15.0 | 22.6 |
| Amphibia | Geotrypetes seraphini | Gaboon caecilian | NOTCH3 | XP_033779639.1 | 2,472 | 14.6 | 21.8 |
| Amphibia | Hyla sarda | Sardinian tree frog | MTF1 | XP_056404323.1 | 1,169 | 12.4 | 22.3 |
| Chordata | Acipenser ruthenus | Sterlet | NOTCH2 | XP_058887354.1 | 2,454 | 16.4 | 24.7 |
| Chordata | Callorhinchus milii | Australian ghostshark | NOTCH2 | XP_042190840.1 | 2,819 | 16.0 | 23.8 |
| Chordata | Petromyzon marinus | Sea lamprey | NOTCH1L | XP_032815028.1 | 2,536 | 14.9 | 23.2 |
| Chordata | Paramormyrops kingsleyae | Elephantfish | NOTCH2L | XP_023699719.1 | 2,420 | 14.4 | 22.2 |
| Invertebrates | Amphimedon queenslandica | Sponge | FBPP1L | XP_019855855 | 698 | 8.1 | 14.4 |
Human NBPF26 has multiple paralogs. The top 10 are shown in the table below.
| Name | Accession # | Length (aa) | Identity (%) | Similarity (%) |
|---|---|---|---|---|
| NBPF1 | NP_001392595.1 | 1,704 | 68.8 | 71.6 |
| NBPF7 | NP_001392671.1 | 1,704 | 68.2 | 71.0 |
| LOC102724250 | NP_001392459.1 | 1,704 | 67.7 | 70.4 |
| NBPF1L | NP_001393481.1 | 1,949 | 66.1 | 68.7 |
| NBPF12 | KAI4082365.1 | 1,459 | 65.1 | 67.3 |
| NBPF9 | NP_001264373.1 | 1,111 | 64.7 | 65.2 |
| NBPF20 | XP_047301971.1 | 1,065 | 61.7 | 62.5 |
| KIAA1693 | BAB21784.1 | 901 | 50.7 | 51.8 |
| NBPF8 | XP_047285792.1 | 1,353 | 48.6 | 50.0 |
| NBPF11 | NP_001095133.3 | 865 | 46.3 | 47.9 |
NBPF26 RNA expression is ubiquitous throughout human tissue. [20]
In lung cancer, mutations in NBPF26 were associated with local disease recurrence. [21] NBPF26 expression in monocytes was increased in pregnant patients with rheumatoid arthritis compared to pregnancies without rheumatoid arthritis. [22]
A conceptual translation of human NBPF26 is shown below.
Glutamate Rich Protein 2 is a protein in humans encoded by the gene ERICH2. This protein is expressed heavily in male tissues specifically in the testes, and proteins are specifically found in the nucleoli fibrillar center and the vesicles of these testicular cells. The protein has multiple protein interactions which indicate that it may play a role in histone modification and proper histone functioning.
Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.
C11orf42 is an uncharacterized protein in Homo sapiens that is encoded by the C11orf42 gene. It is also known as chromosome 11 open reading frame 42 and uncharacterized protein C11orf42, with no other aliases. The gene is mostly conserved in mammals, but it has also been found in rodents, reptiles, fish and worms.
Chromosome 1 open reading frame 185, also known as C1orf185, is a protein that in humans is encoded by the C1orf185 gene. In humans, C1orf185 is a lowly expressed protein that has been found to be occasionally expressed in the circulatory system.
C20orf202 is a protein that in humans is encoded by the C20orf202 gene. In humans, this gene encodes for a nuclear protein that is primarily expressed in the lung and placenta.
KRBA1 is a protein that in humans is encoded by the KRBA1 gene. It is located on the plus strand of chromosome 7 from 149,411,872 to 149,431,664. It is also commonly known under two other aliases: KIAA1862 and KRAB A Domain Containing 1 gene and encodes the KRBA1 protein in humans. The KRBA family of genes is understood to encode different transcriptional repressor proteins
Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.
Transmembrane protein 221 (TMEM221) is a protein that in humans is encoded by the TMEM221 gene. The function of TMEM221 is currently not well understood.
SMIM15(small integral membrane protein 15) is a protein in humans that is encoded by the SMIM15 gene. It is a transmembrane protein that interacts with PBX4. Deletions where SMIM15 is located have produced mental defects and physical deformities. The gene has been found to have ubiquitous but variable expression in many tissues throughout the body.
Transmembrane protein 247 is a multi-pass transmembrane protein of unknown function found in Homo sapiens encoded by the TMEM247 gene. Notable in the protein are two transmembrane regions near the c-terminus of the translated polypeptide. Transmembrane protein 247 has been found to be expressed almost entirely in the testes.
TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.
C11orf98 is a protein-encoding gene on chromosome 11 in humans of unknown function. It is otherwise known as c11orf48. The gene spans the chromosomal locus from 62,662,817-62,665,210. There are 4 exons. It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
Chromosome 4 open reading frame 50 is a protein that in humans is encoded by the C4orf50 gene. The protein localizes in the nucleus. C4orf50 has orthologs in vertebrates but not invertebrates
Transmembrane Protein 144 (TMEM144) is a protein in humans encoded by the TMEM144 gene.
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. It also goes by the alias LOC133491. The human C5ORF47 gene is primarily expressed in the testis.
Ankyrin Repeat And MYND Domain Containing 1 (ANKMY1) is a protein that in humans is encoded by the ANKMY1 gene. Known aliases of ANKMY1 include Zinc Finger Myeloid, Nervy and DEAF-1 or ZMYND13.
Proline-Rich Protein 23A is a protein that is encoded by the Proline-Rich 23A (PRR23A) gene.
Zinc Finger Protein 62, also known as "ZNF62," "ZNF755," or "ZET," is a protein that in humans is encoded by the ZFP62 gene. ZFP62 is part of the C2H2 Zinc Finger family of genes.
