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Results for the Protein: P07602
134218

SAP_HUMAN RecName: Full=Prosaposin; AltName: Full=Proactivator polypeptide; Contains: RecName: Full=Saposin-A; AltName: Full=Protein A; Contains: RecName: Full=Saposin-B-Val; Contains: RecName: Full=Saposin-B; AltName: Full=Cerebroside sulfate activator; Short=CSAct; AltName: Full=Dispersin; AltName: Full=Sphingolipid activator protein 1; Short=SAP-1; AltName: Full=Sulfatide/GM1 activator; Contains: RecName: Full=Saposin-C; AltName: Full=A1 activator; AltName: Full=Co-beta-glucosidase; AltName: Full=Glucosylceramidase activator; AltName: Full=Sphingolipid activator protein 2; Short=SAP-2; Contains: RecName: Full=Saposin-D; AltName: Full=Component C; AltName: Full=Protein C; Flags: Precursor

Known Diseases associated with this Protein:
  GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
  GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (AGD)
  LEUKODYSTROPHY METACHROMATIC DUE TO SAPOSIN-B DEFICIENCY (MLD-SAPB)
  METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
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Default View:

SAPA - smart00162
SapA - pfam02199
SapB_1 - pfam05184
SapB - smart00741
SapB_2 - pfam03489


Swiss-Prot Protein: P07602
Identical to: NP_002769
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SapApfam021994.1e-202154
SapB_1pfam051844.5e-146098
SapB_2pfam034892e-11103138
SapB_1pfam051844e-06195234
SapB_2pfam034893e-09238271
SapB_1pfam051843.9e-14312350
SapB_2pfam034895.1e-13354388
SapB_1pfam051842.3e-13406444
SapB_2pfam034894.9e-11448482
SapApfam021993.4e-22491524
SAPAsmart001624.9e-232154
SapBsmart007416.2e-3061138
SapBsmart007411.1e-19196271
SapBsmart007412.3e-28313388
SapBsmart007412.6e-26407482
SAPAsmart001629.4e-21491524

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031823Diseasep.ASN215HISLeukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
Swiss-ProtVAR_031899Diseasep.ASN215LYSLeukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
Swiss-ProtVAR_006945Diseasep.CYS388PHEGaucher disease, atypical, due to saposin C deficiency (AGD)
Swiss-ProtVAR_006944Diseasep.CYS241SERLeukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
Swiss-ProtVAR_042441Diseasep.LEU349PROGaucher disease, atypical, due to saposin C deficiency (AGD)
Swiss-ProtVAR_006943Diseasep.THR217ILELeukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)
OMIM176801.0007 Diseasep.ASN215HISMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM176801.0010 Diseasep.CYS379GLYGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0004 Diseasep.CYS382PHEGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0003 Diseasep.CYS241SERMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM176801.0011 Diseasep.GLN427TERGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0012 Diseasep.LEU346PROGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0001 Diseasep.THR217ILEMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY



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