Misplaced Pages

HPS1

Article snapshot taken from[REDACTED] with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Protein-coding gene in humans
HPS1
Identifiers
AliasesHPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
External IDsOMIM: 604982; MGI: 2177763; HomoloGene: 163; GeneCards: HPS1; OMA:HPS1 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)
Chromosome 10 (human)Genomic location for HPS1Genomic location for HPS1
Band10q24.2Start98,416,198 bp
End98,446,935 bp
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)
Chromosome 19 (mouse)Genomic location for HPS1Genomic location for HPS1
Band19 C3|19 36.56 cMStart42,743,544 bp
End42,768,417 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • granulocyte

  • stromal cell of endometrium

  • monocyte

  • transverse colon

  • canal of the cervix

  • minor salivary glands

  • right adrenal cortex

  • right coronary artery

  • mucosa of transverse colon

  • right uterine tube
Top expressed in
  • seminal vesicula

  • epithelium of lens

  • lacrimal gland

  • islet of Langerhans

  • epithelium of stomach

  • granulocyte

  • umbilical cord

  • gastrula

  • salivary gland

  • right kidney
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3257

192236

Ensembl

ENSG00000107521

ENSMUSG00000025188

UniProt

Q92902

O08983

RefSeq (mRNA)
NM_000195
NM_001311345
NM_182637
NM_182638
NM_182639

NM_001322476
NM_001322477
NM_001322478
NM_001322479
NM_001322480
NM_001322481
NM_001322482
NM_001322483
NM_001322484
NM_001322485
NM_001322487
NM_001322489
NM_001322490
NM_001322491
NM_001322492

NM_019424
NM_001346703
NM_001362410

RefSeq (protein)
NP_000186
NP_001298274
NP_001309405
NP_001309406
NP_001309407

NP_001309408
NP_001309409
NP_001309410
NP_001309411
NP_001309412
NP_001309413
NP_001309414
NP_001309416
NP_001309418
NP_001309419
NP_001309420
NP_001309421
NP_872577

NP_001333632
NP_062297
NP_001349339

Location (UCSC)Chr 10: 98.42 – 98.45 MbChr 19: 42.74 – 42.77 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000107521Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025188Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA (Feb 1996). "Linkage disequilibrium mapping of the gene for Hermansky–Pudlak syndrome to chromosome 10q23.1-q23.3" (PDF). Hum Mol Genet. 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID 8541858.
  6. Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA (Nov 1995). "A gene causing Hermansky–Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am J Hum Genet. 57 (4): 755–65. PMC 1801499. PMID 7573033.
  7. ^ "Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1".

External links

Further reading

Stub icon

This article on a gene on human chromosome 10 is a stub. You can help Misplaced Pages by expanding it.

Categories:
HPS1 Add topic