C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Hermansky-Pudlak syndrome 1 homolog (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000025188 Hps1 10090 - 19:42755105-42779978 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000026194 Hps1-009 42755196-42778647 protein_coding
  ENSMUST00000069298 Hps1-003 42758081-42779965 protein_coding
  ENSMUST00000159974 Hps1-004 42755196-42779959 retained_intron
  ENSMUST00000160455 Hps1-002 42755198-42779976 protein_coding
  ENSMUST00000160621 Hps1-008 42760365-42763876 retained_intron
  ENSMUST00000161252 Hps1-006 42755583-42757829 nonsense_mediated_decay
  ENSMUST00000161761 Hps1-007 42766811-42769810 retained_intron
  ENSMUST00000162004 Hps1-001 42755105-42779978 protein_coding
  ENSMUST00000162061 Hps1-005 42758480-42778263 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000026194ENSMUST00000069298ENSMUST00000159974ENSMUST00000160455ENSMUST00000160621ENSMUST00000161252ENSMUST00000162004
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000026194 N/A N/A N/A N/A 3.467±0.09 2.171±0.00 N/A 1.189±0.00 N/A N/A N/A 2.731±0.00 N/A N/A
ENSMUST00000069298 1.193±0.24 N/A 1.324±0.00 N/A 1.569±0.05 N/A 0.114±0.00 N/A 0.730±0.12 0.997±0.04 0.111±0.03 2.635±0.81 0.427±0.11 0.443±0.01
ENSMUST00000159974 1.944±0.44 5.017±1.00 3.060±0.39 5.739±2.78 1.791±1.13 2.485±0.26 0.496±0.05 1.551±0.22 0.826±0.38 1.964±0.17 0.148±0.07 3.520±1.35 0.513±0.07 1.224±0.64
ENSMUST00000160455 N/A 4.157±0.00 N/A N/A N/A N/A N/A 1.361±0.00 N/A 0.968±0.00 0.315±0.00 N/A N/A N/A
ENSMUST00000160621 N/A N/A N/A 11.380±0.00 N/A N/A N/A N/A N/A N/A N/A 26.074±0.00 4.143±0.69 1.297±0.00
ENSMUST00000161252 N/A 67.707±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000162004 5.103±1.04 16.250±1.45 6.291±1.23 N/A 6.477±1.90 5.198±2.27 0.475±0.21 4.002±0.48 2.661±0.79 3.163±0.97 0.186±0.05 8.339±3.15 1.750±0.48 0.461±0.26

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00054X CIL_00054X_0002 CGP 19:42725858-42779978
CIL_00054W CIL_00054W_0002 CGP 19:42755105-43388311

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0006996 IMP organelle organization
GO:0007596 IMP blood coagulation
GO:0016023 ISO cytoplasmic membrane-bounded vesicle
GO:0030318 IMP melanocyte differentiation
GO:0031085 IEA BLOC-3 complex
GO:0032816 IMP positive regulation of natural killer cell activation
GO:0033299 IMP secretion of lysosomal enzymes
GO:0043473 IMP pigmentation
GO:0046983 IEA protein dimerization activity
GO:0048069 IMP eye pigmentation
GO:0060041 IMP retina development in camera-type eye

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000026170 hps1 Hermansky-Pudlak syndrome 1 protein_coding Danio_rerio
ENSG00000107521 HPS1 Hermansky-Pudlak syndrome 1 protein_coding Homo_sapiens

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