ASPH
entrez
444
canonical
uniprot
Q12797
canonical
ensembl
ENSG00000198363
resolver
ensp
ENSP00000348841
resolver
ensp
ENSP00000368762
resolver
ensp
ENSP00000368767
resolver
ensp
ENSP00000373856
resolver
ensp
ENSP00000394013
resolver
ensp
ENSP00000427877
resolver
ensp
ENSP00000428060
resolver
ensp
ENSP00000429160
resolver
ensp
ENSP00000429286
resolver
ensp
ENSP00000429954
resolver
ensp
ENSP00000430245
resolver
ensp
ENSP00000436188
resolver
ensp
ENSP00000437864
resolver
ensp
ENSP00000557984
resolver
ensp
ENSP00000557985
resolver
ensp
ENSP00000557986
resolver
ensp
ENSP00000557987
resolver
ensp
ENSP00000557988
resolver
ensp
ENSP00000557989
resolver
ensp
ENSP00000557990
resolver
ensp
ENSP00000557991
resolver
ensp
ENSP00000557992
resolver
ensp
ENSP00000557993
resolver
ensp
ENSP00000557994
resolver
ensp
ENSP00000557995
resolver
ensp
ENSP00000557997
resolver
ensp
ENSP00000557998
resolver
ensp
ENSP00000558000
resolver
ensp
ENSP00000558001
resolver
ensp
ENSP00000558002
resolver
ensp
ENSP00000558004
resolver
ensp
ENSP00000558005
resolver
ensp
ENSP00000558006
resolver
ensp
ENSP00000558007
resolver
ensp
ENSP00000558011
resolver
ensp
ENSP00000558012
resolver
ensp
ENSP00000558017
resolver
ensp
ENSP00000558018
resolver
ensp
ENSP00000558021
resolver
ensp
ENSP00000558022
resolver
ensp
ENSP00000558023
resolver
ensp
ENSP00000558026
resolver
ensp
ENSP00000558027
resolver
ensp
ENSP00000558029
resolver
ensp
ENSP00000558030
resolver
ensp
ENSP00000558031
resolver
ensp
ENSP00000558033
resolver
ensp
ENSP00000558034
resolver
ensp
ENSP00000583438
resolver
ensp
ENSP00000583439
resolver
ensp
ENSP00000620836
resolver
ensp
ENSP00000620839
resolver
ensp
ENSP00000620846
resolver
ensp
ENSP00000620849
resolver
ensp
ENSP00000620850
resolver
ensp
ENSP00000663907
resolver
ensp
ENSP00000700332
resolver
ensp
ENSP00000700336
resolver
ensp
ENSP00000700338
resolver
ensp
ENSP00000700339
resolver
ensp
ENSP00000700353
resolver
ensp
ENSP00000700363
resolver
ensp
ENSP00000700365
resolver
ensp
ENSP00000752222
resolver
enst
ENST00000517661
resolver
genesymbol
ASPH
resolver
genesymbol_syn
BAH
resolver
hgnc
HGNC:757
resolver
uniprot
A0A0A0MSK8
resolver
uniprot
A6NDF4
resolver
uniprot
A6NHI2
resolver
uniprot
B4DIC9
resolver
uniprot
B4DQ07
resolver
uniprot
B4E2K4
resolver
uniprot
B7ZM95
resolver
uniprot
B7ZM96
resolver
uniprot
E5RGP5
resolver
uniprot
F5H667
resolver
uniprot
G3XAN5
resolver
uniprot
Q6NXR7
resolver
uniprot
Q8TB28
resolver
uniprot
Q9H291
resolver
uniprot
Q9H2C4
resolver
uniprot
Q9NRI0
resolver
uniprot
Q9NRI1
resolver
uniprot
Q9Y4J0
resolver
uniprot_entry
ASPH_HUMAN
resolver
uniprot_entry
B4DQ07_HUMAN
resolver
uniprot_entry
B7ZM96_HUMAN
resolver
uniprot_entry
G3XAN5_HUMAN
resolver
uniprot_sec
A0A0A0MSK8
resolver
uniprot_sec
A6NDF4
resolver
uniprot_sec
A6NHI2
resolver
uniprot_sec
B4DIC9
resolver
uniprot_sec
B4E2K4
resolver
uniprot_sec
B7ZM95
resolver
uniprot_sec
E5RGP5
resolver
uniprot_sec
F5H667
resolver
uniprot_sec
Q6NXR7
resolver
uniprot_sec
Q8TB28
resolver
uniprot_sec
Q9H291
resolver
uniprot_sec
Q9H2C4
resolver
uniprot_sec
Q9NRI0
resolver
uniprot_sec
Q9NRI1
resolver
uniprot_sec
Q9Y4J0
resolver
amino_acid_sequence
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMVIALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVPPEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQQEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSEPVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSIFPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEAVNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLKLSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEVLSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGNKEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDEGLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGCRRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFDDSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
uniprot
proteins
disease_involvement
DISEASE: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552]: A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). {ECO:0000269|PubMed:24768550}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.16
uniprot
proteins
function
FUNCTION: [Isoform 1]: Specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. {ECO:0000269|PubMed:11773073}.; FUNCTION: [Isoform 8]: Membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells. {ECO:0000269|PubMed:22586105}.
uniprot
proteins
mass_dalton
85863
uniprot
proteins
mutagenesis
MUTAGEN 91..93; /note="DAD->AAA: Increase in cytoplasmic Ca(2+) via activation of endogenous CRAC channels."; /evidence="ECO:0000269|PubMed:22586105
uniprot
proteins
protein_family
Aspartyl/asparaginyl beta-hydroxylase family
uniprot
proteins
pubmed
10767180
uniprot
proteins
pubmed
10956665
uniprot
proteins
pubmed
10974562
uniprot
proteins
pubmed
11007777
uniprot
proteins
pubmed
11773073
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15485681
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22586105
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24768550
uniprot
proteins
pubmed
7821814
uniprot
proteins
pubmed
8823296
uniprot
proteins
sequence_length
758
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q28056}.; SUBCELLULAR LOCATION: [Isoform 4]: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000305|PubMed:15485681}.; SUBCELLULAR LOCATION: [Isoform 8]: Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000269|PubMed:22586105}.
uniprot
proteins
transmembrane_region
TRANSMEM 54..74; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins