SNX10
entrez
29887
canonical
uniprot
Q9Y5X0
canonical
ensembl
ENSG00000086300
resolver
ensp
ENSP00000343709
resolver
ensp
ENSP00000379661
resolver
ensp
ENSP00000386540
resolver
ensp
ENSP00000387274
resolver
ensp
ENSP00000395474
resolver
ensp
ENSP00000408164
resolver
ensp
ENSP00000513546
resolver
ensp
ENSP00000513547
resolver
ensp
ENSP00000513548
resolver
ensp
ENSP00000513555
resolver
ensp
ENSP00000513559
resolver
enst
ENST00000409367
resolver
enst
ENST00000416246
resolver
enst
ENST00000698074
resolver
enst
ENST00000698075
resolver
enst
ENST00000698076
resolver
enst
ENST00000698084
resolver
enst
ENST00000698089
resolver
genesymbol
SNX10
resolver
hgnc
HGNC:14974
resolver
uniprot
B4DJM0
resolver
uniprot
C9JQ16
resolver
uniprot
E9PFH5
resolver
uniprot
G5E9H5
resolver
uniprot
Q8IYT5
resolver
uniprot
Q8N5Z3
resolver
uniprot_entry
B4DJM0_HUMAN
resolver
uniprot_entry
G5E9H5_HUMAN
resolver
uniprot_entry
Q8N5Z3_HUMAN
resolver
uniprot_entry
SNX10_HUMAN
resolver
uniprot_sec
C9JQ16
resolver
uniprot_sec
E9PFH5
resolver
uniprot_sec
Q8IYT5
resolver
amino_acid_sequence
MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSSSGLGHSSDDSSSHGCKVNTAPQES
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired. {ECO:0000269|PubMed:22499339, ECO:0000269|PubMed:23123320, ECO:0000269|PubMed:23280965}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption. {ECO:0000269|PubMed:17012226, ECO:0000269|PubMed:21844891, ECO:0000269|PubMed:22499339}.
uniprot
proteins
mass_dalton
23598
uniprot
proteins
mutagenesis
MUTAGEN 53; /note="R->A: Abolishes vacuolization induced by overexpression."; /evidence="ECO:0000269|PubMed:17012226"; MUTAGEN 79; /note="K->A: Slightly reduced vacuolization induced by overexpression."; /evidence="ECO:0000269|PubMed:17012226"; MUTAGEN 94; /note="R->A: Reduced vacuolization induced by overexpression."; /evidence="ECO:0000269|PubMed:17012226
uniprot
proteins
protein_family
Sorting nexin family
uniprot
proteins
pubmed
11485546
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17012226
uniprot
proteins
pubmed
21844891
uniprot
proteins
pubmed
22174188
uniprot
proteins
pubmed
22499339
uniprot
proteins
pubmed
23123320
uniprot
proteins
pubmed
23280965
uniprot
proteins
sequence_length
201
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=May also localize to nucleus and endoplasmic reticulum.
uniprot
proteins