SRP72 - signal recognition particle 72 Gene

Also Known as BMFF; BMFS1; HEL103

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6731

About SRP72

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,467,617-56,503,681 (from NCBI)

This gene has 9 transcripts (splice variants), 232 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 21.7), lymph node (RPKM 15.4) and 25 other tissues.

Summary

This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

SRP72 Products (2)

mRNA	Protein	Name
NM_001267722.2	NP_001254651.1	signal recognition particle subunit SRP72 isoform 2
NM_006947.4	NP_008878.3	signal recognition particle subunit SRP72 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 7S RNA binding	IMP IMP: Inferred from mutant phenotype	27899666	GOA
enables TPR domain binding	IPI IPI: Inferred from physical interaction	27899666	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16672232	GOA
contributes to ribosome binding	IMP IMP: Inferred from mutant phenotype	27899666	GOA
enables signal recognition particle binding	IPI IPI: Inferred from physical interaction	17254600	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22541560	GOA
part of signal recognition particle	IDA IDA: Inferred from direct assay	27899666	GOA
part of signal recognition particle, endoplasmic reticulum targeting	IDA IDA: Inferred from direct assay	18089836	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

SRP72 Protein Structure

TPR_9

TPR_12

TPR_6

TPR_9

SRP72

0
200
400
600
671 a.a.

Protein Preferred Names	Protein Names
signal recognition particle subunit SRP72	epididymis luminal protein 103

SRP72 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SRP72	O76094	SRP68	Homo sapiens	Q9UHB9	Density Sedimentation	16672232
Intra	SRP72	O76094	SRP68	Homo sapiens	Q9UHB9	Anti Tag CoIP	35271311
Intra	SRP72	O76094	SRP68	Homo sapiens	Q9UHB9	Pull Down	16672232

Cross: Cross-species interaction Intra: Intraspecies interaction

SRP72 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82318	SRP72 Antibody (YA2063)	WB, IHC-F, IHC-P, ICC/IF	Human
HY-P82318A	SRP72 Antibody (YA2063)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human
HY-P86296	SRP72 Antibody (YA5988)	WB, IHC-P, ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Bone Marrow Failure Syndrome 1	Autosomal Dominant Aplasia And Myelodysplasia BMFS1 Autosomal Dominant Aplastic Anemia And Myelodysplasia Bmff Familial Bone Marrow Failure Bone Marrow Failure Syndrome, Type 1
Anterior Spinal Artery Syndrome	Anterior Spinal Artery Occlusion Syndrome
Labyrinthitis	Labyrinthine Disorder Inner Ear Inflammation Otitis Interna Labyrinth Hyperaemia
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
Type 1 Diabetes Mellitus 20	Diabetes Mellitus, Insulin-Dependent, 20 IDDM20 T1D20 Insulin-Dependent Diabetes Mellitus 20 Diabetes Mellitus, Insulin-Dependent, Type 20
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
Immunodeficiency 21	Monocytopenia And Mycobacterial Infection Syndrome Monomac Gata2 Deficiency Monocytopenia With Susceptibility To Infections Dcml IMD21 Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections Monocyte - B - Natural Killer - Dendritic Cell Deficiency Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
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
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
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13775	SRP72 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SRP72	RGD	RGD:1564787
Canis familiaris	SRP72	VGNC	VGNC:46809
Mus musculus	SRP72	MGD	MGI:1333795
Bos taurus	SRP72	VGNC	VGNC:35287
Macaca mulatta	SRP72	VGNC	VGNC:100273
Felis catus	SRP72	VGNC	VGNC:65685
Others	SRP72	NCBI