Version: 8.0.0
Date: Tue Jan 28 2025
1,338 results for bloc1s5

BLOC1S5

(Homo sapiens)
Gene
Name: biogenesis of lysosomal organelles complex 1 subunit 5
Synonyms: FLJ18427, BLOS5, BLOC-1 subunit 5, biogenesis of lysosome-related organelles complex 1 subunit 5, HPS11, MU, muted homolog, biogenesis of lysosomal organelles complex-1, subunit 5, muted, MUTED, DKFZp686E2287
Source: HGNC:18561
Biotype: protein coding gene
Symbol: BLOC1S5 (Hsa)
Symbol: BLOC1S5
Strict Orthology Symbols: bloc1s5

bloc1s5

(Danio rerio)
Gene
Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted
Synonyms: wu:fc43a05, fc43a05, zgc:113385
Source: ZFIN:ZDB-GENE-030131-3502
Biotype: protein coding gene
Symbol: bloc1s5 (Dre)
Symbol: bloc1s5
Automated Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Strict Orthology Symbols: bloc1s5

Bloc1s5

(Mus musculus)
Gene
Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted
Synonyms: BLOC-1 subunit, mu, RIKEN cDNA 1810074A19 gene, muted, Muted, 1810074A19Rik
Source: MGI:2178598
Biotype: protein coding gene
Symbol: Bloc1s5 (Mmu)
Symbol: Bloc1s5
Automated Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Strict Orthology Symbols: bloc1s5
Alleles: Bloc1s5 (Mmu)...Bloc1s5 (Mmu)...Bloc1s5 (Mmu)...Bloc1s5 (Mmu)...Bloc1s5 (Mmu)

Bloc1s5

(Rattus norvegicus)
Gene
Name: biogenesis of lysosomal organelles complex 1 subunit 5
Synonyms: BLOC-1 subunit 5, biogenesis of lysosome-related organelles complex 1 subunit 5, LOC306868, muted homolog, muted, biogenesis of lysosomal organelles complex-1, subunit 5, muted, muted homolog (mouse)
Source: RGD:1306846
Biotype: protein coding gene
Symbol: Bloc1s5 (Rno)
Symbol: Bloc1s5
Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5); INTERACTS WITH
Automated Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Strict Orthology Symbols: bloc1s5

bloc1s5

(Xenopus tropicalis)
Gene
Name: biogenesis of lysosomal organelles complex 1 subunit 5
Synonyms: biogenesis of lysosomal organelles complex 1 subunit 5, bloc1s5, muted
Source: Xenbase:XB-GENE-919985
Biotype: gene
Symbol: bloc1s5
Symbol: bloc1s5 (Xtr)
Automated Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Synonyms: bloc1s5...bloc1s5...bloc1s5
Strict Orthology Symbols: bloc1s5

BLOC1S5-TXNDC5

(Homo sapiens)
Gene
Name: BLOC1S5-TXNDC5 readthrough (NMD candidate)
Synonyms: MUTED-TXNDC5, MGC59718, FLJ21789
Source: HGNC:42001
Biotype: ncRNA gene
Symbol: BLOC1S5-TXNDC5 (Hsa)
Symbol: BLOC1S5-TXNDC5

bloc1s5.L

(Xenopus laevis)
Gene
Name: biogenesis of lysosomal organelles complex 1 subunit 5
Synonyms: muted, biogenesis of lysosomal organelles complex 1 subunit 5, bloc1s5.L
Source: Xenbase:XB-GENE-919989
Biotype: gene
Symbol: bloc1s5.L (Xla)
Automated Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Strict Orthology Symbols: bloc1s5
Symbol: bloc1s5.L

Bloc1s5mu-J

(Mus musculus)
Allele/Variant
Source: MGI:1856107
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Symbol: Bloc1s5mu-J

Bloc1s5em1Gpt

(Mus musculus)
Allele/Variant
Source: MGI:7295932
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Symbol: Bloc1s5em1Gpt

Bloc1s5em1Smoc

(Mus musculus)
Allele/Variant
Source: MGI:7288491
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Symbol: Bloc1s5em1Smoc

Bloc1s5em1(IMPC)Tcp

(Mus musculus)
Allele/Variant
Source: MGI:7425543
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Symbol: Bloc1s5em1(IMPC)Tcp

Bloc1s5mu

(Mus musculus)
Allele/Variant
Source: MGI:1856106
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, platelet storage pool deficiency
Variant Name: Not Available
Symbol: Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Symbol: Bloc1s5mu

Bloc1s5mu/Bloc1s5mu [background:] CHMU/Le

(Mus musculus)
Model
Id: MGI:3795672
Synonyms: Not Available
Symbol: Bloc1s5/Bloc1s5 [background:] CHMU/Le (Mmu)
Genes: Bloc1s5 (Mmu)
Alleles: Bloc1s5 (Mmu)
Name: Bloc1s5/Bloc1s5 [background:] CHMU/Le

Bloc1s5em1(IMPC)Tcp/Bloc1s5em1(IMPC)Tcp [background:] C57BL/6NCrl-Bloc1s5em1(IMPC)Tcp/Cmmr

(Mus musculus)
Model
Id: MGI:7551053
Synonyms: Not Available
Symbol: Bloc1s5/Bloc1s5 [background:] C57BL/6NCrl-Bloc1s5/Cmmr (Mmu
Genes: Bloc1s5 (Mmu)
Alleles: Bloc1s5 (Mmu)
Name: Bloc1s5/Bloc1s5 [background:] C57BL/6NCrl-Bloc1s5/Cmmr

Bloc1s5mu-Btlr/Bloc1s5mu-Btlr [background:] C57BL/6J-Bloc1s5mu-Btlr

(Mus musculus)
Model
Id: MGI:3799689
Synonyms: Not Available
Symbol: Bloc1s5/Bloc1s5 [background:] C57BL/6J-Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Alleles: Bloc1s5 (Mmu)
Name: Bloc1s5/Bloc1s5 [background:] C57BL/6J-Bloc1s5

Bloc1s5mu/Bloc1s5mu [background:] involves: STOCK t

(Mus musculus)
Model
Id: MGI:3587678
Synonyms: Not Available
Symbol: Bloc1s5/Bloc1s5 [background:] involves: STOCK t (Mmu)
Genes: Bloc1s5 (Mmu)
Alleles: Bloc1s5 (Mmu)
Name: Bloc1s5/Bloc1s5 [background:] involves: STOCK t

Bloc1s5mu-Btlr

(Mus musculus)
Allele/Variant
Source: MGI:3799687
Genes: Bloc1s5 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_region_variant, intron_variant
Diseases: Not Available
Variant Name: Not Available
Symbol: Bloc1s5 (Mmu)
Genes: Bloc1s5 (Mmu)
Symbol: Bloc1s5mu-Btlr

Muted

(Drosophila melanogaster)
Gene
Name: Muted
Synonyms: NP_001036744, Muted ortholog, CPuORF of FBgn0260467, CG34131, Dromel_CG7071_FBtr0084211_uORF, muted, Muted
Source: FB:FBgn0083967
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Strict Orthology Symbols: bloc1s5

positive regulation of pigment cell differentiation

Gene Ontology
Source: GO:0050942
Synonyms:
  • activation of pigment cell differentiation
  • stimulation of pigment cell differentiation
Branch: biological process
Genes: BLOC1S5 (Hsa)...Bloc1s5 (Mmu)...Bloc1s5 (Rno)

ihb579

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-220209-5
Genes: bloc1s5 (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Genes: bloc1s5 (Dre)

BLOC-1 complex

Gene Ontology
Source: GO:0031083
Synonyms: Not Available
Branch: cellular component
Genes: bloc1s5 (Dre)...BLOC1S5-TXNDC5 (Hsa)...Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)

microvesicle

Gene Ontology
Source: GO:1990742
Synonyms:
  • ectosome
  • extracellular microvesicle
Branch: cellular component
Genes: Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)

ihb580

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-220209-6
Genes: bloc1s5 (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Genes: bloc1s5 (Dre)

endosome to melanosome transport

Gene Ontology
Source: GO:0035646
Synonyms: Not Available
Branch: biological process
Genes: Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)

otolith morphogenesis

Gene Ontology
Source: GO:0032474
Synonyms: Not Available
Branch: biological process
Genes: Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)

platelet storage pool deficiency

Disease
Source: DOID:2223
Definition: Not Available
Genes: bloc1s5 (Dre)...bloc1s5 (Xtr)...Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)
Alleles: Bloc1s5 (Mmu)

TXNDC5

(Homo sapiens)
Gene
Name: thioredoxin domain containing 5
Synonyms: ER protein 46, thioredoxin related protein, thioredoxin-like protein p46, UNQ364, thioredoxin domain-containing protein 5, MGC3178, Hcc-2, HCC2, endothelial protein disulphide isomerase, endoplasmic reticulum protein ERp46, PDIA15, EndoPDI, ERP46, STRF8, protein disulfide isomerase family A, member 15, endoplasmic reticulum resident protein 46, thioredoxin domain containing 5 (endoplasmic reticulum), FLJ21789
Source: HGNC:21073
Biotype: protein coding gene
Gene Synopsis: Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene.

Hermansky-Pudlak syndrome

Disease
Source: DOID:3753
Definition: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Genes: bloc1s5 (Dre)...BLOC1S5 (Hsa)...bloc1s5 (Xtr)...Bloc1s5 (Mmu)...Bloc1s5 (Rno)
Alleles: Bloc1s5 (Mmu)

melanosome transport

Gene Ontology
Source: GO:0032402
Synonyms: Not Available
Branch: biological process
Genes: Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)

anterograde synaptic vesicle transport

Gene Ontology
Source: GO:0048490
Synonyms:
  • anterograde axonal transport of synaptic vesicle
Branch: biological process
Genes: Bloc1s5 (Mmu)...BLOC1S5 (Hsa)...Bloc1s5 (Rno)

anterograde axonal transport

Gene Ontology
Source: GO:0008089
Synonyms:
  • anterograde axon cargo transport
Branch: biological process
Genes: BLOC1S5 (Hsa)...Bloc1s5 (Mmu)...Bloc1s5 (Rno)

Hermansky-Pudlak syndrome 1

Disease
Source: DOID:0060539
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
Alleles: Bloc1s5 (Mmu)

melanosome organization

Gene Ontology
Source: GO:0032438
Synonyms:
  • melanosome organisation
  • melanosome organization and biogenesis
Branch: biological process
Genes: Bloc1s5 (Mmu)...BLOC1S5 (Hsa)

transport vesicle

Gene Ontology
Source: GO:0030133
Synonyms:
  • Golgi to vacuole transport vesicle
  • Golgi-vacuole transport vesicle
Branch: cellular component
Genes: BLOC1S5 (Hsa)...Bloc1s5 (Rno)...bloc1s5 (Dre)...BLOC1S5-TXNDC5 (Hsa)...Bloc1s5 (Mmu)

axon cytoplasm

Gene Ontology
Source: GO:1904115
Synonyms:
  • axoplasm
Branch: cellular component
Genes: BLOC1S5 (Hsa)...Bloc1s5 (Rno)...Bloc1s5 (Mmu)

developmental pigmentation

Gene Ontology
Source: GO:0048066
Synonyms:
  • pigmentation during development
Branch: biological process
Genes: BLOC1S5 (Hsa)...Bloc1s5 (Rno)...Bloc1s5 (Mmu)

neuron projection development

Gene Ontology
Source: GO:0031175
Synonyms:
  • neurite biosynthesis
  • neurite development
Branch: biological process
Genes: BLOC1S5 (Hsa)...Bloc1s5 (Mmu)...Bloc1s5 (Rno)

vesicle-mediated transport

Gene Ontology
Source: GO:0016192
Synonyms:
  • nonselective vesicle transport
  • protein sorting along secretory pathway
Branch: biological process
Genes: Bloc1s5 (Mmu)...Bloc1s5 (Rno)...BLOC1S5 (Hsa)

sa31098

(Danio rerio)
Allele/Variant
Source: ZFIN:ZDB-ALT-160601-859
Genes: bloc1s5 (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: Not Available
Variant Name: Not Available
Genes: bloc1s5 (Dre)

(GRCh38)6:8064352G>A

(Homo sapiens)
Allele/Variant
Source: rs140675160
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8064352G>A

(GRCh38)6:8041235C>T

(Homo sapiens)
Allele/Variant
Source: rs149984222
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8041235C>T

(GRCh38)6:8064375A>C

(Homo sapiens)
Allele/Variant
Source: rs1757381494
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, start_lost, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8064375A>C

(GRCh38)6:8064358C>A

(Homo sapiens)
Allele/Variant
Source: rs1757380540
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, stop_gained, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8064358C>A

(GRCh38)6:8015668G>A

(Homo sapiens)
Allele/Variant
Source: rs367984586
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8015668G>A

(GRCh38)6:8062559G>A

(Homo sapiens)
Allele/Variant
Source: rs748667570
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8062559G>A

(GRCh38)6:8041169G>A

(Homo sapiens)
Allele/Variant
Source: rs369265282
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8041169G>A

(GRCh38)6:8026427T>G

(Homo sapiens)
Allele/Variant
Source: rs764780126
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, splice_acceptor_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8026427T>G

(GRCh38)6:8064353G>A

(Homo sapiens)
Allele/Variant
Source: rs144221198
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8064353G>A

(GRCh38)6:8064269G>C

(Homo sapiens)
Allele/Variant
Source: rs757169126
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8064269G>C

(GRCh38)6:8041262G>A

(Homo sapiens)
Allele/Variant
Source: rs183115218
Genes: BLOC1S5 (Hsa), BLOC1S5-TXNDC5 (Hsa), EEF1E1-BLOC1S5 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)6:8041262G>A