Movatterモバイル変換


[0]ホーム

URL:


 
 
* 605640

SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9


HGNC Approved Gene Symbol:SIGLEC9

Cytogenetic location:19q13.41   Genomic coordinates(GRCh38) :19:51,119,778-51,136,263 (from NCBI)


TEXT

Description

Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33,159590), are a family of type 1 transmembrane proteins, each having a unique expression pattern, mostly in hemopoietic cells. The CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4, have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM;603492) that mediates an association with SLAM-associated protein (SAP;300490).


Cloning and Expression

By computational and positional cloning analysis, EST database searching, and RT-PCR on a bone marrow cDNA library,Foussias et al. (2000) obtained a cDNA encoding SIGLEC9. The deduced 463-amino acid protein is most closely related to SIGLEC7 (604410). RT-PCR analysis detected high expression in bone marrow, placenta, spleen, and fetal liver, lower expression in other tissues, and no expression in heart, skeletal muscle, pancreas, and ovary.

By searching an EST database using a fragment homologous to SIGLEC7, followed by RT-PCR on mononuclear cells,Angata and Varki (2000) cloned SIGLEC9. Northern blot analysis detected an approximately 1.8-kb transcript with highest expression in liver and lower expression in spleen, placenta, and skeletal muscle. Flow cytometric analysis demonstrated expression on most granulocytes and monocytes. SIGLEC9 binding to erythrocytes could be abolished by sialidase treatment of the red cells. SIGLEC9 was found to bind to both alpha-2-3- and alpha-2-6-linked sialic acids. Unlike other Ig-like genes, no SIGLEC homologs were identified in the C. elegans and fruit fly databases.

Zhang et al. (2000) cloned SIGLEC9 from a differentiated myeloid cell line. Sequence analysis predicted that the SIGLEC9 protein shares approximately 80% identity with the SIGLEC7 protein. SIGLEC9 has 8 potential N-linked glycosylation sites and a cytoplasmic tail with 94 residues. Unlike SIGLEC7, COS cells expressing SIGLEC9 required sialidase treatment before binding to red cells, which must not be treated with the enzyme. Northern blot analysis detected clear expression in spleen and placenta, with low or undetectable expression in liver, colon, stomach, and testis. Flow cytometric analysis demonstrated expression on monocytes and neutrophils, as well as on a subpopulation of lymphocytes, but not on eosinophils.


Gene Structure

By genomic sequence analysis,Foussias et al. (2000) determined that the SIGLEC9 gene contains 7 exons and spans 5.4 kb.


Mapping

By contig analysis,Foussias et al. (2000) mapped the SIGLEC9 gene to chromosome 19q13.4, telomeric to KLK14.


REFERENCES

  1. Angata, T., Varki, A.Cloning, characterization, and phylogenetic analysis of Siglec-9, a new member of the CD33-related group of Siglecs: evidence for co-evolution with sialic acid synthesis pathways. J. Biol. Chem. 275: 22127-22135, 2000. [PubMed:10801860,related citations] [Full Text]

  2. Foussias, G., Yousef, G. M., Diamandis, E. P.Identification and molecular characterization of a novel member of the Siglec family (SIGLEC9). Genomics 67: 171-178, 2000. [PubMed:10903842,related citations] [Full Text]

  3. Zhang, J. Q., Nicoll, G., Jones, C., Crocker, P. R.Siglec-9, a novel sialic acid binding member of the immunoglobulin superfamily expressed broadly on human blood leukocytes. J. Biol. Chem. 275: 22121-22126, 2000. [PubMed:10801862,related citations] [Full Text]


Creation Date:
Paul J. Converse : 2/13/2001
carol : 01/28/2016
tkritzer : 4/22/2005
ckniffin : 5/26/2004
mgross : 2/13/2001
mgross : 2/13/2001

* 605640

SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9


HGNC Approved Gene Symbol: SIGLEC9

Cytogenetic location: 19q13.41   Genomic coordinates(GRCh38) : 19:51,119,778-51,136,263(from NCBI)


TEXT

Description

Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33, 159590), are a family of type 1 transmembrane proteins, each having a unique expression pattern, mostly in hemopoietic cells. The CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4, have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; 603492) that mediates an association with SLAM-associated protein (SAP; 300490).


Cloning and Expression

By computational and positional cloning analysis, EST database searching, and RT-PCR on a bone marrow cDNA library, Foussias et al. (2000) obtained a cDNA encoding SIGLEC9. The deduced 463-amino acid protein is most closely related to SIGLEC7 (604410). RT-PCR analysis detected high expression in bone marrow, placenta, spleen, and fetal liver, lower expression in other tissues, and no expression in heart, skeletal muscle, pancreas, and ovary.

By searching an EST database using a fragment homologous to SIGLEC7, followed by RT-PCR on mononuclear cells, Angata and Varki (2000) cloned SIGLEC9. Northern blot analysis detected an approximately 1.8-kb transcript with highest expression in liver and lower expression in spleen, placenta, and skeletal muscle. Flow cytometric analysis demonstrated expression on most granulocytes and monocytes. SIGLEC9 binding to erythrocytes could be abolished by sialidase treatment of the red cells. SIGLEC9 was found to bind to both alpha-2-3- and alpha-2-6-linked sialic acids. Unlike other Ig-like genes, no SIGLEC homologs were identified in the C. elegans and fruit fly databases.

Zhang et al. (2000) cloned SIGLEC9 from a differentiated myeloid cell line. Sequence analysis predicted that the SIGLEC9 protein shares approximately 80% identity with the SIGLEC7 protein. SIGLEC9 has 8 potential N-linked glycosylation sites and a cytoplasmic tail with 94 residues. Unlike SIGLEC7, COS cells expressing SIGLEC9 required sialidase treatment before binding to red cells, which must not be treated with the enzyme. Northern blot analysis detected clear expression in spleen and placenta, with low or undetectable expression in liver, colon, stomach, and testis. Flow cytometric analysis demonstrated expression on monocytes and neutrophils, as well as on a subpopulation of lymphocytes, but not on eosinophils.


Gene Structure

By genomic sequence analysis, Foussias et al. (2000) determined that the SIGLEC9 gene contains 7 exons and spans 5.4 kb.


Mapping

By contig analysis, Foussias et al. (2000) mapped the SIGLEC9 gene to chromosome 19q13.4, telomeric to KLK14.


REFERENCES

  1. Angata, T., Varki, A.Cloning, characterization, and phylogenetic analysis of Siglec-9, a new member of the CD33-related group of Siglecs: evidence for co-evolution with sialic acid synthesis pathways. J. Biol. Chem. 275: 22127-22135, 2000. [PubMed: 10801860] [Full Text: https://doi.org/10.1074/jbc.M002775200]

  2. Foussias, G., Yousef, G. M., Diamandis, E. P.Identification and molecular characterization of a novel member of the Siglec family (SIGLEC9). Genomics 67: 171-178, 2000. [PubMed: 10903842] [Full Text: https://doi.org/10.1006/geno.2000.6208]

  3. Zhang, J. Q., Nicoll, G., Jones, C., Crocker, P. R.Siglec-9, a novel sialic acid binding member of the immunoglobulin superfamily expressed broadly on human blood leukocytes. J. Biol. Chem. 275: 22121-22126, 2000. [PubMed: 10801862] [Full Text: https://doi.org/10.1074/jbc.M002788200]


Creation Date:
Paul J. Converse : 2/13/2001

Edit History:
carol : 01/28/2016
tkritzer : 4/22/2005
ckniffin : 5/26/2004
mgross : 2/13/2001
mgross : 2/13/2001



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
Printed: Feb. 20, 2026

OMIM Donation:

Dear OMIM User,

To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.

Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM


[8]ページ先頭

©2009-2026 Movatter.jp