prosaposin

Summary
Gene Symbol
  • PSAP
Aliases
  • saposin-A
  • saposin-B
  • saposin-C
  • saposin-D
  • variant Gaucher disease and variant metachromatic leukodystrophy
Organism
Homo sapiens (human)
External Links
NCBI Gene
5660
HGNC
9498
KEGG Gene ID
hsa:5660
PubChem
5660
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Gangliosidosis
  • Gaucher disease
  • Glycoprotein
  • Lysosome
  • Metachromatic leukodystrophy
  • Neurodegeneration
  • Parkinson disease
  • Parkinsonism
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
  • Sphingolipid metabolism
Proteins
Displaying 1 entry
UniProt Protein Name
P07602
  • Proactivator polypeptide
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000197746

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12382
Name
saposin
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 267 in total
DO ID Disease Name Source
DOID:0040085 bacterial sepsis
DOID:0050464 Farber lipogranulomatosis
DOID:0050564 autosomal dominant nonsyndromic deafness
DOID:0050565 autosomal recessive nonsyndromic deafness
DOID:0050566 X-linked nonsyndromic deafness
DOID:0050589 inflammatory bowel disease
DOID:0050841 focal hand dystonia
DOID:0060180 colitis
DOID:0060189 ileitis
DOID:0060190 ileocolitis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 148 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000020 Urinary incontinence
HP:0000365 Hearing impairment
HP:0000467 Neck muscle weakness
HP:0000496 Abnormality of eye movement
HP:0000508 Ptosis
HP:0000572 Visual loss
HP:0000605 Supranuclear gaze palsy
HP:0000613 Photophobia
Displaying all 10 entries
Disease ID Disease Name
OMIM:611721
  • combined PSAP deficiency
ORPHA:139406
  • combined PSAP deficiency
ORPHA:309271
  • metachromatic leukodystrophy, adult form
OMIM:611722
  • Krabbe disease due to saposin A deficiency
ORPHA:206436
  • infantile Krabbe disease
ORPHA:309263
  • metachromatic leukodystrophy, juvenile form
OMIM:610539
  • Gaucher disease due to saposin C deficiency
ORPHA:309256
  • metachromatic leukodystrophy, late infantile form
OMIM:619491
  • Parkinson disease 24, autosomal dominant, susceptibility to
OMIM:249900
  • metachromatic leukodystrophy due to saposin B deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002838
Gene Name
prosaposin

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024