HSPA9
This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
Full Name
Heat Shock Protein Family A (Hsp70) Member 9
Function
Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU (PubMed:26702583).
Regulates erythropoiesis via stabilization of ISC assembly (PubMed:21123823, PubMed:26702583).
May play a role in the control of cell proliferation and cellular aging (By similarity).
Biological Process
Cellular response to unfolded protein Source: GO_Central
Chaperone cofactor-dependent protein refolding Source: GO_Central
Erythrocyte differentiation Source: UniProtKB
Inner mitochondrial membrane organization Source: UniProtKB
Iron-sulfur cluster assembly Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of erythrocyte differentiation Source: UniProtKB
Negative regulation of hematopoietic stem cell differentiation Source: Ensembl
Negative regulation of hemopoiesis Source: Ensembl
Protein export from nucleus Source: Ensembl
Protein refolding Source: GO_Central
Regulation of erythrocyte differentiation Source: UniProtKB
Cellular Location
Mitochondrion; Nucleolus
Involvement in disease
Anemia, sideroblastic, 4 (SIDBA4):
A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families.
Even-plus syndrome (EVPLS):
An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others.
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