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פותח על ידי קלירמאש פתרונות בע"מ -
Characterization of the human NIPSNAP1 gene from 22q12: A member of a novel gene family
Year:
1998
Source of publication :
Gene
Authors :
סרוסי, אייל
;
.
Volume :
212
Co-Authors:
Seroussi, E., Department of Molecular Medicine, Karolinska Hosp., CMM-Bldg. L., Stockholm, Sweden
Pan, H.-Q., Dept. of Chemistry and Biochemistry, University of Oklahoma, Norman, OK 73019, United States
Kedra, D., Department of Molecular Medicine, Karolinska Hosp., CMM-Bldg. L., Stockholm, Sweden
Roe, B.A., Dept. of Chemistry and Biochemistry, University of Oklahoma, Norman, OK 73019, United States
Dumanski, J.P., Department of Molecular Medicine, Karolinska Hosp., CMM-Bldg. L., Stockholm, Sweden
Facilitators :
From page:
13
To page:
20
(
Total pages:
8
)
Abstract:
Rapid progress in sequencing of human and other genomes allows high-resolution analysis of their gene content on the basis of comparison between species. We have used a combined computer and biochemical approach to characterize 135 kb of human genomic sequence from 22q12 and discovered a new 10 exon gene, termed NIPSNAP1, located between the neurofibromatosis type 2 and the pK1.3 genes. The NIPSNAP1 gene spans 26 kb of genomic sequence and shows two large introns in the 5'-region. All exon-intron junctions contain the gt/ag consensus splice site. The putative promoter of the NIPSNAP1 gene is TATA-less and resides in a GC-rich island characteristic of housekeeping genes. The NIPSNAP1 mRNA is 2.1 kb, is expressed ubiquitously at variable levels, with the highest expression in liver, is terminated by an uncommon ATTAAA polyadenylation site, and is capable of encoding a 284-amino-acid protein. This NIPSNAP1 protein has a strong sequence similarity limited to the central portion of a hypothetical protein (acc. P34492) from chromosome III of C. elegans, in which the other portions resemble a 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like protein. Thus, the NIPSNAP1 gene is a member of an evolutionarily well conserved, novel gene family with two members in human and mouse that have now been characterized, and one member in C. elegans. The second human gene, NIPSNAP2, is localized in the vicinity of marker D7S499 on chromosome 7. Although the function of the NIPSNAP protein family is unknown, clues about its role may reside in the co-expression of the C. elegans orthologue, within an operon encoding protein motifs known to be involved in vesicular transport.
Note:
Related Files :
Animals
Base Sequence
Chromosomes, Human, Pair 22
mice
multigene family
proteins
Sequence Homology, Amino Acid
עוד תגיות
תוכן קשור
More details
DOI :
10.1016/S0378-1119(98)00098-5
Article number:
Affiliations:
Database:
סקופוס
Publication Type:
מאמר
;
.
Language:
אנגלית
Editors' remarks:
ID:
32483
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 01:10
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Scientific Publication
Characterization of the human NIPSNAP1 gene from 22q12: A member of a novel gene family
212
Seroussi, E., Department of Molecular Medicine, Karolinska Hosp., CMM-Bldg. L., Stockholm, Sweden
Pan, H.-Q., Dept. of Chemistry and Biochemistry, University of Oklahoma, Norman, OK 73019, United States
Kedra, D., Department of Molecular Medicine, Karolinska Hosp., CMM-Bldg. L., Stockholm, Sweden
Roe, B.A., Dept. of Chemistry and Biochemistry, University of Oklahoma, Norman, OK 73019, United States
Dumanski, J.P., Department of Molecular Medicine, Karolinska Hosp., CMM-Bldg. L., Stockholm, Sweden
Characterization of the human NIPSNAP1 gene from 22q12: A member of a novel gene family
Rapid progress in sequencing of human and other genomes allows high-resolution analysis of their gene content on the basis of comparison between species. We have used a combined computer and biochemical approach to characterize 135 kb of human genomic sequence from 22q12 and discovered a new 10 exon gene, termed NIPSNAP1, located between the neurofibromatosis type 2 and the pK1.3 genes. The NIPSNAP1 gene spans 26 kb of genomic sequence and shows two large introns in the 5'-region. All exon-intron junctions contain the gt/ag consensus splice site. The putative promoter of the NIPSNAP1 gene is TATA-less and resides in a GC-rich island characteristic of housekeeping genes. The NIPSNAP1 mRNA is 2.1 kb, is expressed ubiquitously at variable levels, with the highest expression in liver, is terminated by an uncommon ATTAAA polyadenylation site, and is capable of encoding a 284-amino-acid protein. This NIPSNAP1 protein has a strong sequence similarity limited to the central portion of a hypothetical protein (acc. P34492) from chromosome III of C. elegans, in which the other portions resemble a 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like protein. Thus, the NIPSNAP1 gene is a member of an evolutionarily well conserved, novel gene family with two members in human and mouse that have now been characterized, and one member in C. elegans. The second human gene, NIPSNAP2, is localized in the vicinity of marker D7S499 on chromosome 7. Although the function of the NIPSNAP protein family is unknown, clues about its role may reside in the co-expression of the C. elegans orthologue, within an operon encoding protein motifs known to be involved in vesicular transport.
Scientific Publication
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