SBDS - SBDS ribosome maturation factor Gene

Also Known as SDS; SDO1; SWDS; CGI-97

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51119

About SBDS

Cytogenetic location: 7q11.21 Genomic coordinates (GRCh38): 7:66,987,680-66,995,586 (from NCBI)

This gene has 13 transcripts (splice variants), 209 orthologues and is associated with 50 phenotypes. Ubiquitous expression in heart (RPKM 89.6), fat (RPKM 75.8) and 25 other tissues.

Summary

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]

SBDS Products (1)

mRNA	Protein	Name
NM_016038.4	NP_057122.2	ribosome maturation protein SBDS

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables microtubule binding	IDA IDA: Inferred from direct assay	18324336	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17475909	GOA
enables rRNA binding	IDA IDA: Inferred from direct assay	17475909	GOA
enables ribosome binding	IDA IDA: Inferred from direct assay	21536732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bone marrow development	IMP IMP: Inferred from mutant phenotype	15342903	GOA
involved in bone mineralization	IMP IMP: Inferred from mutant phenotype	17920346	GOA
involved in cytosolic ribosome assembly	IDA IDA: Inferred from direct assay	21536732	GOA
involved in hematopoietic progenitor cell differentiation	IMP IMP: Inferred from mutant phenotype	19759903	GOA
involved in leukocyte chemotaxis	IDA IDA: Inferred from direct assay	14743349	GOA
involved in mitotic spindle organization	IDA IDA: Inferred from direct assay	18324336	GOA
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	17643419	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15860664	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	15860664	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15860664	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	18324336	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SBDS Protein Structure

SBDS

SBDS_C

0
100
200
250 a.a.

Protein Preferred Names	Protein Names
ribosome maturation protein SBDS	SBDS, ribosome assembly guanine nucleotide exchange factor

SBDS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SBDS	Q9Y3A5	KLHL6	Homo sapiens	Q8WZ60	Validated Y2H	26871637
Intra	SBDS	Q9Y3A5	KLHL6	Homo sapiens	Q8WZ60	Y2H Array	26871637
Intra	SBDS	Q9Y3A5	KLHL6	Homo sapiens	Q8WZ60	Y2H Prey Pooling	26871637
Intra	SBDS	Q9Y3A5	ACD	Homo sapiens	Q96AP0	Pull Down	21044950
Intra	SBDS	Q9Y3A5	ACD	Homo sapiens	Q96AP0	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SBDS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74570	SBDS Protein, Human (His)	Q9Y3A5 (M1-E250)	≥ 95%, as determined by reducing SDS-PAGE.

SBDS Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83482	SBDS Antibody (YA3227)	WB, ICC/IF	Human, Mouse, Rat
HY-P83482A	SBDS Antibody (YA3227)(PBS only)	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Splenomegaly
Anodontia Of Permanent Dentition	Teeth, Permanent, Absence Of
Enophthalmos
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Neutropenia	Leukopenia
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Severe Congenital Neutropenia 8	Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities Scn8 Sdsl Shwachman-Diamond Syndrome-Like
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Exocrine Pancreatic Insufficiency
Johanson-Blizzard Syndrome	JBS Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness Johanson Blizzard Syndrome
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia 1 HOMG1 Hypomagnesemia With Secondary Hypocalcemia Hsh Hypomagnesemic Tetany Intestinal Hypomagnesemia With Secondary Hypocalcemia Homg Hypomagnesemia Caused By Selective Magnesium Malabsorption Hypomagnesemia Intestinal Type 1 Primary Hypomagnesemia With Secondary Hypocalcemia Phsh Hypomagnesemia, Intestinal, With Secondary Hypocalcemia Familial Primary Hypomagnesemia With Hypocalcuria Hypomagnesemia 1 Hypomagnesmic Tetany
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Severe Congenital Neutropenia 4	Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency Scn4 Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome Dursun Syndrome Severe Congenital Neutropenia Type 4
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Common Variable Immune Deficiency Acquired Hypogammaglobulinemia Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Cyclic Neutropenia	Cyclic Hematopoiesis Cyclical Neutropenia Neutropenia Cyclic Cyclic Hematopoesis Neutropenia, Cyclic Cyclic Agranulocytosis Neutropenia, Periodic Cyclic Leucopenia Periodic Neutropenia Cyclic Haematopoiesis CH Hematopoiesis, Cyclic Neutropenia, Cyclical
Dyskeratosis Congenita, X-Linked	DKCX X-Linked Dyskeratosis Congenita Zinsser-Cole-Engman Syndrome Hoyeraal-Hreidarsson Syndrome Dyskeratosis Congenita X-Linked HHS Cerebellar Hypoplasia With Pancytopenia Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia Dyskeratosis Congenita
Neutropenia, Severe Congenital, X-Linked	X-Linked Severe Congenital Neutropenia XLN SCNX Severe Congenital Neutropenia X-Linked Neutropenia, Congenital, Severe, X-Linked
Anauxetic Dysplasia 1	Anauxetic Dysplasia Spondylometaepiphyseal Dysplasia, Menger Type Spondylometaepiphyseal Dysplasia, Anauxetic Type Spondyloepimetaphyseal Dysplasia, Anauxetic Type ANXD1 Anxd Spondylometaepiphyseal Dysplasia Anauxetic Type Spondylometaepiphyseal Dysplasia Menger Type Ad Spondyloepimetaphyseal Dysplasia, Menger Type Dysplasia, Anauxetic, Type 1
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D2939	BGSBD		/	Unkown
HY-RS12463	SBDS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-168535	SJ6145		/	Unkown
HY-181810	EG36	Inhibitor	/	Unkown
HY-RS18499	Sbds Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24981	Sbds Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SBDS	VGNC	VGNC:34304
Rattus norvegicus	SBDS	RGD	RGD:1311043
Macaca mulatta	SBDS	VGNC	VGNC:81757
Canis familiaris	SBDS	VGNC	VGNC:45881
Felis catus	SBDS	VGNC	VGNC:64885
Mus musculus	SBDS	MGD	MGI:1913961
Others	SBDS	NCBI