MONDO:0008214 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0008974 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0010949 |
RAB7A |
P51149 |
3.6.5.2
|
R-HSA-8876198
R-HSA-8876198
Reactome Name: RAB GEFs exchange GTP for GDP on RABs
See in Reactome
R-HSA-9013423
R-HSA-9013407
R-HSA-9013409
R-HSA-8873719
R-HSA-8854214
R-HSA-9035034
R-HSA-9013408
R-HSA-2132295
R-HSA-2132295
Reactome Name: MHC class II antigen presentation
See in Reactome
R-HSA-9013406
R-HSA-6798695
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-168249
R-HSA-168256
R-HSA-194315
R-HSA-392499
R-HSA-199991
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-9007101
R-HSA-1280218
R-HSA-162582
R-HSA-5653656
|
Immune System
Metabolism of proteins
Signal Transduction
Vesicle-mediated transport
|
R-HSA-2213248
(
R-HSA-2132295
)
R-HSA-2213248
Reaction Name: Transport of antigen loaded MHC II molecules to surface
See in Reactome
R-HSA-6798743
(
R-HSA-6798695
)
R-HSA-6798743
Reaction Name: Exocytosis of secretory granule membrane proteins
See in Reactome
R-HSA-8854255
(
R-HSA-8854214
)
R-HSA-8854255
Reaction Name: TBC1D2A accelerates GTP hydrolysis by RAB7
See in Reactome
R-HSA-8854329
(
R-HSA-8854214
)
R-HSA-8854329
Reaction Name: TBC1D15 accelerates GTP hydrolysis by RAB7
See in Reactome
R-HSA-8870466
(
R-HSA-8873719
)
R-HSA-8870469
(
R-HSA-8873719
)
R-HSA-8870469
Reaction Name: RGGT geranylgeranylates RAB proteins
See in Reactome
R-HSA-8877451
(
R-HSA-8876198
)
R-HSA-8877451
Reaction Name: MON1:CCZ1 exchanges GTP for GDP on RAB7
See in Reactome
R-HSA-9013145
(
R-HSA-9013149
)
R-HSA-9013145
Reaction Name: RAC1 binds effectors at the plasma membrane
See in Reactome
R-HSA-9013157
(
R-HSA-9013148
)
R-HSA-9013157
Reaction Name: CDC42 binds effectors at the plasma membrane
See in Reactome
R-HSA-9014294
(
R-HSA-9013404
)
R-HSA-9014294
Reaction Name: RAC2 binds effectors at the plasma membrane
See in Reactome
R-HSA-9014449
(
R-HSA-9013408
)
R-HSA-9014449
Reaction Name: RHOG binds effectors at the plasma membrane
See in Reactome
R-HSA-9017507
(
R-HSA-9013409
)
R-HSA-9017507
Reaction Name: RHOJ binds effectors at the plasma membrane
See in Reactome
R-HSA-9018746
(
R-HSA-9013406
)
R-HSA-9018746
Reaction Name: RHOQ binds effectors at the plasma membrane
See in Reactome
R-HSA-9018758
(
R-HSA-9013407
)
R-HSA-9018758
Reaction Name: RHOH binds effectors at the plasma membrane
See in Reactome
R-HSA-9018808
(
R-HSA-9013423
)
R-HSA-9018808
Reaction Name: RAC3 binds effectors at the plasma membrane
See in Reactome
R-HSA-9693125
(
R-HSA-9035034
)
R-HSA-9693125
Reaction Name: RHOF binds effectors at the plasma membrane
See in Reactome
R-HSA-9693198
(
R-HSA-9013405
)
R-HSA-9693198
Reaction Name: RHOD binds effectors at the plasma membrane
See in Reactome
|
MONDO:0013276 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0014094 |
STEAP3 |
Q658P3 |
1.16.1.-
|
R-HSA-917977
R-HSA-917977
Reactome Name: Transferrin endocytosis and recycling
See in Reactome
R-HSA-9035034
R-HSA-6803204
R-HSA-6803204
Reactome Name: TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
See in Reactome
R-HSA-9013409
R-HSA-9013406
R-HSA-9013405
R-HSA-9013148
|
R-HSA-3700989
R-HSA-3700989
Reactome Name: Transcriptional Regulation by TP53
See in Reactome
R-HSA-9012999
R-HSA-212436
R-HSA-74160
R-HSA-5633008
R-HSA-5633008
Reactome Name: TP53 Regulates Transcription of Cell Death Genes
See in Reactome
R-HSA-194315
R-HSA-917937
R-HSA-382551
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Transport of small molecules
Signal Transduction
|
R-HSA-6801184
(
R-HSA-6803204
)
R-HSA-6801184
Reaction Name: TP53 stimulates STEAP3 expression
See in Reactome
R-HSA-6801195
(
R-HSA-6803204
)
R-HSA-9013157
(
R-HSA-9013148
)
R-HSA-9013157
Reaction Name: CDC42 binds effectors at the plasma membrane
See in Reactome
R-HSA-9017507
(
R-HSA-9013409
)
R-HSA-9017507
Reaction Name: RHOJ binds effectors at the plasma membrane
See in Reactome
R-HSA-9018746
(
R-HSA-9013406
)
R-HSA-9018746
Reaction Name: RHOQ binds effectors at the plasma membrane
See in Reactome
R-HSA-917811
(
R-HSA-917977
)
R-HSA-917811
Reaction Name: STEAP3-like proteins reduce Fe3+ to Fe2+
See in Reactome
R-HSA-9693125
(
R-HSA-9035034
)
R-HSA-9693125
Reaction Name: RHOF binds effectors at the plasma membrane
See in Reactome
R-HSA-9693198
(
R-HSA-9013405
)
R-HSA-9693198
Reaction Name: RHOD binds effectors at the plasma membrane
See in Reactome
|
MONDO:0018663 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0018770 |
MONDO:0018770
Disease Name: Jeune syndrome
OMIM id: OMIM:617088
Orphanet id: Orphanet:474
All associated enzymes in DAR:
LBR
. The disease is also associated to other non-enzyme proteins (not in DAR).
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|