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BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 [ Homo sapiens (human) ]

Gene ID: 282991, updated on 2-Mar-2021

Summary

Official Symbol
BLOC1S2provided by HGNC
Official Full Name
biogenesis of lysosomal organelles complex 1 subunit 2provided by HGNC
Primary source
HGNC:HGNC:20984
See related
Ensembl:ENSG00000196072 MIM:609768
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEAP; BLOS2; BORCS2; CEAP11
Summary
This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 15.8), brain (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

See BLOC1S2 in Genome Data Viewer
Location:
10q24.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (100273278..100286692, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102033035..102046437, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CWF19 like cell cycle control factor 1 Neighboring gene prohibitin pseudogene 9 Neighboring gene RNA, U6 small nuclear 422, pseudogene Neighboring gene polycystin 2 like 1, transient receptor potential cation channel Neighboring gene stearoyl-CoA desaturase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30135, MGC10120

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome organization NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial outer membrane permeabilization IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
platelet dense granule organization NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
BLOC-1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
BORC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
gamma-tubulin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-tubulin complex IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
biogenesis of lysosome-related organelles complex 1 subunit 2
Names
11 kDa centrosome associated protein
BLOC-1 subunit 2
centrosomal 10 kDa protein
centrosome protein oncogene

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001001342.2NP_001001342.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_001001342.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Variants 2, 4, and 5 encode the same isoform (2).
    Source sequence(s)
    AK054697, AL138921, BX112121, HY107885
    UniProtKB/Swiss-Prot
    Q6QNY1
    Related
    ENSP00000410865.1, ENST00000441611.5
    Conserved Domains (1) summary
    pfam10046
    Location:194
    BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
  2. NM_001282436.2NP_001269365.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 3

    See identical proteins and their annotated locations for NP_001269365.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (3) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL138921, AL139819, BF666010, BX112121, CB118026
    Consensus CDS
    CCDS73179.1
    UniProtKB/TrEMBL
    A0A087X1N6
    Related
    ENSP00000484340.1, ENST00000618916.4
    Conserved Domains (1) summary
    pfam10046
    Location:1190
    BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
  3. NM_001282437.2NP_001269366.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_001269366.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2, 4, and 5 encode the same isoform (2).
    Source sequence(s)
    AL138921, BX112121, CB118026, CN340962
    UniProtKB/Swiss-Prot
    Q6QNY1
    Conserved Domains (1) summary
    pfam10046
    Location:194
    BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
  4. NM_001282438.1NP_001269367.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_001269367.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Variants 2, 4, and 5 encode the same isoform (2).
    Source sequence(s)
    AL138921, BU740315, BX112121, CB218039, DB296446, HY165508
    UniProtKB/Swiss-Prot
    Q6QNY1
    Related
    ENSP00000481847.1, ENST00000614731.4
    Conserved Domains (1) summary
    pfam10046
    Location:194
    BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
  5. NM_001282439.2NP_001269368.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AL138921, BU608851, BX112121, CB218039, DB296446, DB456773
    Conserved Domains (1) summary
    pfam10046
    Location:43136
    BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
  6. NM_173809.5NP_776170.2  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_776170.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK298969, AL138921, BX112121, CB118026
    Consensus CDS
    CCDS7490.1
    UniProtKB/Swiss-Prot
    Q6QNY1
    UniProtKB/TrEMBL
    F1T0F0
    Related
    ENSP00000359398.2, ENST00000370372.7
    Conserved Domains (1) summary
    pfam10046
    Location:43137
    BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    100273278..100286692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016102.1XP_016871591.1  biogenesis of lysosome-related organelles complex 1 subunit 2 isoform X1

    Related
    ENSP00000464387.1, ENST00000579542.1
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