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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Hermansky-Pudlak syndrome 1 homolog (human)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000162004 Hps1-001 ENSMUSG00000025188 10090 - 19:42755105-42779978 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000162004
Transcript ID Adipose Adrenal Bladder Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000162004 5.103±1.04 16.250±1.45 6.291±1.23 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 Biotype Species E-Value Bit Score
ENST00000325103 HPS1-009 protein_coding Homo_sapiens 0 1951
ENST00000338546 HPS1-010 protein_coding Homo_sapiens 0 809
ENST00000359632 HPS1-013 protein_coding Homo_sapiens 0 682
ENST00000361490 HPS1-011 protein_coding Homo_sapiens 0 1951
ENST00000462743 HPS1-005 processed_transcript Homo_sapiens 0 243
ENST00000465957 HPS1-008 processed_transcript Homo_sapiens 9e-38 161
ENST00000467246 HPS1-012 processed_transcript Homo_sapiens 0 1236
ENST00000474873 HPS1-007 processed_transcript Homo_sapiens 0 494
ENST00000480020 HPS1-002 processed_transcript Homo_sapiens 0 339
ENST00000497527 HPS1-006 processed_transcript Homo_sapiens 0 399
ENST00000498219 HPS1-003 processed_transcript Homo_sapiens 0 339
ENST00000613394 HPS1-201 protein_coding Homo_sapiens 0 1940

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