RSPRY1
entrez
89970
canonical
uniprot
Q96DX4
canonical
ensembl
ENSG00000159579
resolver
ensp
ENSP00000377942
resolver
ensp
ENSP00000443176
resolver
ensp
ENSP00000530860
resolver
ensp
ENSP00000530868
resolver
ensp
ENSP00000605185
resolver
ensp
ENSP00000782771
resolver
genesymbol
RSPRY1
resolver
genesymbol_syn
KIAA1972
resolver
hgnc
HGNC:29420
resolver
uniprot
Q6UX21
resolver
uniprot
Q8ND53
resolver
uniprot_entry
RSPRY_HUMAN
resolver
uniprot_sec
Q6UX21
resolver
uniprot_sec
Q8ND53
resolver
amino_acid_sequence
MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQQQAENSAVPTADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQEPPYSMITLHEMAETDEGWLDVVQSLIRVIPLEDPLGPAVITLLLDECPLPTKDALQKLTEILNLNGEVACQDSSHPAKHRNTSAVLGCLAEKLAGPASIGLLSPGILEYLLQCLKLQSHPTVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWANDPDYLKRQVGFCAQWSLDNLFLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESVRCTFCVDAGVWYYEVTVVTSGVMQIGWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHPCWKEGDTVGFLLDLNEKQMIFFLNGNQLPPEKQVFSSTVSGFFAAASFMSYQQCEFNFGAKPFKYPPSMKFSTFNDYAFLTAEEKIILPRHRRLALLKQVSIRENCCSLCCDEVADTQLKPCGHSDLCMDCALQLETCPLCRKEIVSRIRQISHIS
uniprot
proteins
disease_involvement
DISEASE: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) [MIM:616723]: An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. {ECO:0000269|PubMed:26365341}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
64180
uniprot
proteins
pubmed
11853319
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26365341
uniprot
proteins
sequence_length
576
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins