Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

15 structures for P54818

Entry ID Method Resolution Chain Position Source
3ZR5 X-ray 210 A A 40-684 PDB
3ZR6 X-ray 244 A A 40-684 PDB
4CCC X-ray 209 A A 41-684 PDB
4CCD X-ray 197 A A 41-684 PDB
4CCE X-ray 206 A A 41-684 PDB
4UFH X-ray 216 A A 41-684 PDB
4UFI X-ray 240 A A 41-684 PDB
4UFJ X-ray 220 A A 41-684 PDB
4UFK X-ray 240 A A 43-684 PDB
4UFL X-ray 240 A A 43-684 PDB
4UFM X-ray 240 A A 43-684 PDB
5NXB X-ray 360 A A/B 41-684 PDB
6Y6S X-ray 210 A A 41-684 PDB
6Y6T X-ray 225 A A 41-684 PDB
AF-P54818-F1 Predicted AlphaFoldDB

36 variants for P54818

Variant ID(s) Position Change Description Diseaes Association Provenance
rs223514117 35 A>S No EVA
rs3389253907 146 L>P No EVA
rs3389221010 170 L>F No EVA
rs3389262596 170 L>P No EVA
rs3402956503 174 Y>F No EVA
rs256512444 289 S>G No EVA
rs3389262539 301 M>K No EVA
rs3389255196 372 A>T No EVA
rs3389212464 419 E>K No EVA
rs3389250471 450 G>S No EVA
rs3389250498 460 E>D No EVA
rs218777016 480 P>S No EVA
rs3389256465 491 K>N No EVA
rs3389250517 500 L>F No EVA
rs3389255239 506 N>I No EVA
rs3389268529 510 Q>L No EVA
rs3389239400 528 T>A No EVA
rs3402256711 543 D>V No EVA
rs3389250554 546 S>N No EVA
rs218529254 550 V>I No EVA
rs253538621 554 H>Y No EVA
rs3403598667 555 H>Q No EVA
rs3389255209 572 S>E No EVA
rs3389250270 573 G>C No EVA
rs3389248119 578 A>T No EVA
rs3389268588 594 V>D No EVA
rs3403621857 603 S>C No EVA
rs3402256676 604 Y>D No EVA
rs32820047 623 V>I No EVA
rs3402256653 631 L>P No EVA
rs3389250207 641 F>V No EVA
rs3389184975 658 P>L No EVA
rs32820199 663 A>V No EVA
rs3389250491 665 I>T No EVA
rs3389227546 677 N>D No EVA
rs241177635 679 R>H No EVA

1 associated diseases with P54818

Without disease ID

1 regional properties for P54818

Type Name Position InterPro Accession
domain Glycosyl hydrolase family 59, central domain 357 - 472 IPR035394

Functions

Description
EC Number 3.2.1.46 Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds
Subcellular Localization
  • Lysosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

1 GO annotations of molecular function

Name Definition
galactosylceramidase activity Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.

2 GO annotations of biological process

Name Definition
galactosylceramide catabolic process The chemical reactions and pathways resulting in the breakdown of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group.
myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P54804 GALC Galactocerebrosidase Canis lupus familiaris (Dog) (Canis familiaris) PR
P54803 GALC Galactocerebrosidase Homo sapiens (Human) PR
O02791 GALC Galactocerebrosidase Macaca mulatta (Rhesus macaque) PR
Q95QT2 C29E4.10 Putative galactocerebrosidase Caenorhabditis elegans PR
Q5SNX7 galc Galactocerebrosidase Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MANSQPKASQ QRQAKVMTAA AGSASRVAVP LLLCALLVPG GAYVLDDSDG LGREFDGIGA
70 80 90 100 110 120
VSGGGATSRL LVNYPEPYRS EILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYE
130 140 150 160 170 180
LDENYFRGYE WWLMKEAKKR NPDIILMGLP WSFPGWLGKG FSWPYVNLQL TAYYVVRWIL
190 200 210 220 230 240
GAKHYHDLDI DYIGIWNERP FDANYIKELR KMLDYQGLQR VRIIASDNLW EPISSSLLLD
250 260 270 280 290 300
QELWKVVDVI GAHYPGTYTV WNAKMSGKKL WSSEDFSTIN SNVGAGCWSR ILNQNYINGN
310 320 330 340 350 360
MTSTIAWNLV ASYYEELPYG RSGLMTAQEP WSGHYVVASP IWVSAHTTQF TQPGWYYLKT
370 380 390 400 410 420
VGHLEKGGSY VALTDGLGNL TIIIETMSHQ HSMCIRPYLP YYNVSHQLAT FTLKGSLREI
430 440 450 460 470 480
QELQVWYTKL GTPQQRLHFK QLDTLWLLDG SGSFTLELEE DEIFTLTTLT TGRKGSYPPP
490 500 510 520 530 540
PSSKPFPTNY KDDFNVEYPL FSEAPNFADQ TGVFEYYMNN EDREHRFTLR QVLNQRPITW
550 560 570 580 590 600
AADASSTISV IGDHHWTNMT VQCDVYIETP RSGGVFIAGR VNKGGILIRS ATGVFFWIFA
610 620 630 640 650 660
NGSYRVTADL GGWITYASGH ADVTAKRWYT LTLGIKGYFA FGMLNGTILW KNVRVKYPGH
670 680
GWAAIGTHTF EFAQFDNFRV EAAR