SRP72 - signal recognition particle 72 Gene

Homo sapiens

Also known as BMFF; BMFS1; HEL103

Gene ID: 6731 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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