Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
ASPH [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5490331
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Aspartyl/asparaginyl beta-hydroxylase, ASPH_HUMAN, junctin
Locations in the PathwayBrowser
Expand all
Muscle contraction (Homo sapiens)
Cardiac conduction (Homo sapiens)
Ion homeostasis (Homo sapiens)
RYR tetramers transport Ca2+ from sarcoplasmic reticulum lumen to cytosol (Homo sapiens)
RYR tetramer:FKBP1B tetramer:CASQ polymer:TRDN:junctin [sarcoplasmic reticulum membrane] (Homo sapiens)
ASPH [endoplasmic reticulum membrane] (Homo sapiens)
Transport of small molecules (Homo sapiens)
Ion channel transport (Homo sapiens)
Stimuli-sensing channels (Homo sapiens)
RYR tetramers transport Ca2+ from sarcoplasmic reticulum lumen to cytosol (Homo sapiens)
RYR tetramer:FKBP1B tetramer:CASQ polymer:TRDN:junctin [sarcoplasmic reticulum membrane] (Homo sapiens)
ASPH [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q12797 ASPH
Gene Names
ASPH, BAH
Chain
chain:1-758
Reference Genes
BioGPS Gene:444 ASPH
COSMIC (genes):ASPH ASPH
CTD Gene:444 ASPH
dbSNP Gene:444 ASPH
ENSEMBL:ENSG00000198363 ASPH
HGNC:757 ASPH
KEGG Gene (Homo sapiens):444 ASPH
Monarch:444 ASPH
NCBI Gene:444 ASPH
OMIM:600582 ASPH
UCSC:Q12797 ASPH
Reference Transcript
RefSeq:NM_001164751.1 ASPH
RefSeq:NM_001164756.1 ASPH
RefSeq:NM_032467.3 ASPH
RefSeq:NM_032468.4 ASPH
RefSeq:NM_004318.3 ASPH
RefSeq:NM_020164.4 ASPH
RefSeq:NM_001164750.1 ASPH
RefSeq:NM_032466.3 ASPH
RefSeq:NM_001164753.1 ASPH
RefSeq:NM_001164755.1 ASPH
Other Identifiers
0002510050
0003840722
0004610711
11721774_a_at
11721775_s_at
11739366_at
11739367_at
11742303_a_at
11747616_a_at
11750180_x_at
11759707_at
205808_at
207284_s_at
209135_at
210896_s_at
224996_at
225008_at
3137534
3137535
3137536
3137537
3137538
3137539
3137540
3137541
3137542
3137543
3137550
3137551
3137553
3137558
3137561
3137562
3137565
3137566
3137569
3137574
3137576
3137582
3137584
3137585
3137586
3137587
3137588
3137589
3137596
3137597
3137598
3137600
3137601
3137603
3137605
3137606
3137607
3137610
3137611
3137623
3137624
3137625
3137627
3137635
3137636
3137637
3137638
3137639
3137641
3137642
3137643
3137645
3137646
3137653
3137654
3137655
3137656
3137657
37528_at
43336_at
444
56660_at
64902_f_at
64903_at
73214_at
8150988
88518_at
A_23_P216094
A_24_P18105
A_24_P295245
GE61576
GE61579
GE63347
GO:0003013
GO:0003674
GO:0004597
GO:0005198
GO:0005509
GO:0005513
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0005886
GO:0006091
GO:0006464
GO:0006810
GO:0006936
GO:0007165
GO:0008150
GO:0008307
GO:0009055
GO:0009058
GO:0010524
GO:0010649
GO:0010880
GO:0010881
GO:0014701
GO:0015031
GO:0016020
GO:0016021
GO:0016491
GO:0016529
GO:0018193
GO:0018215
GO:0022900
GO:0030176
GO:0031585
GO:0032237
GO:0032541
GO:0032991
GO:0033017
GO:0033018
GO:0033198
GO:0034220
GO:0034641
GO:0034704
GO:0042264
GO:0042592
GO:0043167
GO:0043226
GO:0044325
GO:0045862
GO:0045893
GO:0046872
GO:0051213
GO:0051604
GO:0055074
GO:0055085
GO:0060314
GO:0060316
GO:0062101
GO:0070588
GO:0071277
GO:0090316
GO:0097202
GO:1903779
HMNXSV003000148
HMNXSV003005141
HMNXSV003007785
Hs.332422.0.S1_3p_at
Hs.332422.0.S2_3p_at
ILMN_1693771
ILMN_1739719
ILMN_2352934
PH_hs_0024953
S83325_s_at
TC08001264.hg
g11878115_3p_at
g11991236_3p_a_at
g4757799_3p_at
g9910363_3p_a_at
Participates
as a component of
RYR tetramer:FKBP1B tetramer:CASQ polymer:TRDN:junctin [sarcoplasmic reticulum membrane] (Homo sapiens)
Inferred To
Asph [endoplasmic reticulum membrane]
(Mus musculus)
Asph [endoplasmic reticulum membrane]
(Rattus norvegicus)
unm_hu7910 [endoplasmic reticulum membrane]
(Danio rerio)
ASPH [endoplasmic reticulum membrane]
(Caenorhabditis elegans)
ASPH [endoplasmic reticulum membrane]
(Sus scrofa)
Cross References
RefSeq
NP_115855.1
,
NP_001158222.1
,
NP_064549.1
,
NP_001158227.1
,
NP_001158223.1
,
NP_001158228.1
,
NP_115856.1
,
NP_004309.2
,
NP_001158225.1
,
NP_115857.1
OpenTargets
ENSG00000198363
GeneCards
Q12797
HPA
ENSG00000198363-ASPH
Ensembl
ENST00000356457
,
ENSP00000430245
,
ENST00000389204
,
ENSP00000348841
,
ENSG00000198363
,
ENST00000379454
,
ENSP00000368762
,
ENSP00000436188
,
ENSP00000368767
,
ENSP00000437864
,
ENST00000517847
,
ENSP00000429954
,
ENSP00000429286
,
ENSP00000373856
,
ENST00000522835
,
ENSP00000394013
,
ENST00000541428
,
ENST00000518068
,
ENSP00000429160
,
ENST00000379449
,
ENST00000517903
,
ENST00000522603
,
ENST00000445642
PRO
Q12797
Pharos - Targets
Q12797
GlyGen
Q12797
Orphanet
23143
HMDB Protein
HMDBP01022
PDB
6YYW
,
6RK9
,
5JTC
,
5JZA
,
6YYX
,
6QA5
,
6YYU
,
7BMJ
,
5APA
,
7BMI
,
7E6J
,
5JQY
,
5JZ8
,
5JZU
,
6Q9I
,
6YYV
,
5JZ6
,
6Q9F
,
6YYY
,
6Z6Q
,
6Z6R
© 2022
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text