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
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000107521 HPS1 9606 - 10:98416198-98446947 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000325103 HPS1-009 98416198-98446926 protein_coding
  ENST00000338546 HPS1-010 98429151-98446913 protein_coding
  ENST00000359632 HPS1-013 98423608-98431282 protein_coding
  ENST00000361490 HPS1-011 98416198-98446910 protein_coding
  ENST00000414009 HPS1-014 98429156-98434091 protein_coding
  ENST00000462743 HPS1-005 98418152-98420369 processed_transcript
  ENST00000465957 HPS1-008 98442388-98446927 processed_transcript
  ENST00000467246 HPS1-012 98417015-98446887 processed_transcript
  ENST00000470095 HPS1-004 98423617-98434091 processed_transcript
  ENST00000474873 HPS1-007 98435086-98445413 processed_transcript
  ENST00000478087 HPS1-001 98423608-98434091 processed_transcript
  ENST00000480020 HPS1-002 98430571-98446862 processed_transcript
  ENST00000497527 HPS1-006 98423880-98426103 processed_transcript
  ENST00000498219 HPS1-003 98425906-98446873 processed_transcript
  ENST00000613394 HPS1-201 98416199-98446947 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000325103ENST00000338546ENST00000359632ENST00000361490ENST00000414009ENST00000465957ENST00000467246ENST00000480020ENST00000498219
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000325103 2.076±0.00 4.922±0.00 N/A 1.253±0.00 2.621±0.99 N/A 0.149±0.00 N/A 2.250±0.00 N/A N/A 4.442±3.08 1.997±0.04 3.247±0.00
ENST00000338546 N/A N/A N/A N/A N/A N/A N/A 0.629±0.00 N/A 1.658±0.36 N/A 6.921±0.00 N/A N/A
ENST00000359632 N/A N/A N/A N/A N/A N/A N/A N/A 1.653±0.00 N/A N/A N/A N/A N/A
ENST00000361490 2.223±0.00 N/A N/A 3.283±0.00 N/A 2.663±0.00 0.909±0.00 3.619±0.00 N/A 1.197±0.00 1.418±0.00 N/A N/A N/A
ENST00000414009 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 4.122±0.00
ENST00000465957 N/A N/A 0.864±0.00 N/A 1.537±0.00 N/A 1.436±1.07 N/A N/A 2.863±1.78 N/A 1.575±0.00 3.515±0.00 N/A
ENST00000467246 14.040±0.00 18.841±0.00 N/A 3.919±2.81 8.517±7.85 9.113±0.00 2.865±2.69 7.199±6.39 8.814±0.00 2.125±1.69 2.050±1.82 12.131±4.12 4.832±0.96 8.079±5.73
ENST00000480020 N/A N/A N/A N/A N/A 2.992±0.00 N/A N/A N/A N/A N/A 3.423±0.00 N/A N/A
ENST00000498219 N/A N/A N/A N/A N/A N/A N/A N/A 2.354±0.00 1.381±0.00 N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00054X CIL_00054X_0001 CGP 10:98383565-98446947
CIL_00054W CIL_00054W_0001 CGP 10:98416198-99235862

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 TAS cytoplasm
GO:0005764 TAS lysosome
GO:0005887 TAS integral component of plasma membrane
GO:0006996 IEA organelle organization
GO:0007040 TAS lysosome organization
GO:0007596 IEA blood coagulation
GO:0007601 IEA visual perception
GO:0016023 IDA cytoplasmic membrane-bounded vesicle
GO:0030318 IEA melanocyte differentiation
GO:0031085 IPI BLOC-3 complex
GO:0032816 IEA positive regulation of natural killer cell activation
GO:0033299 IEA secretion of lysosomal enzymes
GO:0043473 IEA pigmentation
GO:0046983 IPI protein dimerization activity
GO:0048069 IEA eye pigmentation
GO:0060041 IEA retina development in camera-type eye

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000026170 hps1 Hermansky-Pudlak syndrome 1 protein_coding Danio_rerio
ENSMUSG00000025188 Hps1 Hermansky-Pudlak syndrome 1 homolog (human) protein_coding Mus_musculus

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