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 4
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000398145 HPS4-005 ENSG00000100099 9606 - 22:26451480-26483812 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BreastKidneyMuscleOvaryPlacentaENST00000398145
Transcript ID Breast Kidney Muscle Ovary Placenta
ENST00000398145 1.053±0.00 0.833±0.00 0.311±0.00 1.126±0.00 0.614±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005764 IDA lysosome
GO:0006605 IDA protein targeting
GO:0006996 IEA organelle organization
GO:0007040 IDA lysosome organization
GO:0007596 IEA blood coagulation
GO:0007599 TAS hemostasis
GO:0016020 IDA membrane
GO:0016023 IEA cytoplasmic membrane-bounded vesicle
GO:0030318 IEA melanocyte differentiation
GO:0031085 IPI BLOC-3 complex
GO:0042470 IDA melanosome
GO:0042803 IPI protein homodimerization activity
GO:0042827 IDA platelet dense granule
GO:0046983 IPI protein dimerization activity
GO:0048075 TAS positive regulation of eye pigmentation
GO:0050821 IPI protein stabilization

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000133708 Hps4-002 retained_intron Mus_musculus 0 496
ENSMUST00000035279 Hps4-001 protein_coding Mus_musculus 0 496
ENSMUST00000112359 Hps4-003 protein_coding Mus_musculus 0 496

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