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Protein

BLOC-1-related complex subunit 5

Gene

BORCS5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility.1 Publication

GO - Biological processi

  • lysosome localization Source: UniProtKB
  • organelle transport along microtubule Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
BLOC-1-related complex subunit 5Curated
Alternative name(s):
Loss of heterozygosity 12 chromosomal region 1Imported
Myristoylated lysosomal protein1 Publication
Short name:
Myrlysin1 Publication
Gene namesi
Name:BORCS5Imported
Synonyms:LOH12CR1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000165714.10
HGNCiHGNC:17950 BORCS5
MIMi616598 gene
neXtProtiNX_Q969J3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2G → A: Loss of myristoylation and loss of localization to lysosomal membranes. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000165714
PharmGKBiPA30421

Polymorphism and mutation databases

BioMutaiLOH12CR1
DMDMi74731048

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00003185962 – 196BLOC-1-related complex subunit 5Add BLAST195

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei71PhosphoserineBy similarity1
Modified residuei75PhosphoserineCombined sources1

Post-translational modificationi

Myristoylation at Gly-2 mediates attachment to lysosome membranes.1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ969J3
MaxQBiQ969J3
PaxDbiQ969J3
PeptideAtlasiQ969J3
PRIDEiQ969J3
ProteomicsDBi75773
75774 [Q969J3-2]

PTM databases

iPTMnetiQ969J3
PhosphoSitePlusiQ969J3

Expressioni

Tissue specificityi

Ubiquitously expressed (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000165714 Expressed in 139 organ(s), highest expression level in oocyte
CleanExiHS_LOH12CR1
ExpressionAtlasiQ969J3 baseline and differential
GenevisibleiQ969J3 HS

Organism-specific databases

HPAiHPA039509
HPA043627

Interactioni

Subunit structurei

Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Interacts with ARL8B, KIF5A, KLC1 and PLEKHM2; links the lysosomal BORC complex to the microtubule plus-end-directed kinesin motor (PubMed:25898167).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PUF60Q9UHX14EBI-747707,EBI-1053259

Protein-protein interaction databases

BioGridi125600, 16 interactors
IntActiQ969J3, 4 interactors
STRINGi9606.ENSP00000321546

Structurei

3D structure databases

ProteinModelPortaliQ969J3
SMRiQ969J3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BORCS5 family.Curated

Phylogenomic databases

eggNOGiKOG4515 Eukaryota
ENOG410YDKQ LUCA
GeneTreeiENSGT00390000015016
HOGENOMiHOG000007522
HOVERGENiHBG108081
InParanoidiQ969J3
KOiK20819
OMAiEPFSMRP
OrthoDBiEOG091G0OY0
PhylomeDBiQ969J3
TreeFamiTF316379

Family and domain databases

InterProiView protein in InterPro
IPR018780 TBORCS5
PANTHERiPTHR31634 PTHR31634, 1 hit
PfamiView protein in Pfam
PF10158 LOH1CR12, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q969J3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGSEQSSEAE SRPNDLNSSV TPSPAKHRAK MDDIVVVAQG SQASRNVSND
60 70 80 90 100
PDVIKLQEIP TFQPLLKGLL SGQTSPTNAK LEKLDSQQVL QLCLRYQDHL
110 120 130 140 150
HQCAEAVAFD QNALVKRIKE MDLSVETLFS FMQERQKRYA KYAEQIQKVN
160 170 180 190
EMSAILRRIQ MGIDQTVPLL DRLNSMLPEG ERLEPFSMKP DRELRL
Length:196
Mass (Da):22,222
Last modified:December 1, 2001 - v1
Checksum:iCC369C1971B4FEB8
GO
Isoform 2 (identifier: Q969J3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-67: Missing.

Show »
Length:148
Mass (Da):17,000
Checksum:i513E08D4300A45AD
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1P3G3V1P3_HUMAN
BLOC-1-related complex subunit 5
BORCS5 LOH12CR1, hCG_27699
177Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03884041S → C. Corresponds to variant dbSNP:rs3741795Ensembl.1
Natural variantiVAR_038841191D → N. Corresponds to variant dbSNP:rs3751262Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03125420 – 67Missing in isoform 2. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY037865 mRNA Translation: AAK71328.1
AY037866 mRNA Translation: AAK71329.1
AK075028 mRNA Translation: BAC11360.1
CH471094 Genomic DNA Translation: EAW96257.1
CH471094 Genomic DNA Translation: EAW96258.1
BC013668 mRNA Translation: AAH13668.1
CCDSiCCDS81669.1 [Q969J3-2]
CCDS8649.1 [Q969J3-1]
RefSeqiNP_001287671.1, NM_001300742.2
NP_001317285.1, NM_001330356.1 [Q969J3-2]
NP_477517.1, NM_058169.5 [Q969J3-1]
UniGeneiHs.504805
Hs.720779

Genome annotation databases

EnsembliENST00000298571; ENSP00000298571; ENSG00000165714 [Q969J3-2]
ENST00000314565; ENSP00000321546; ENSG00000165714 [Q969J3-1]
ENST00000627374; ENSP00000486120; ENSG00000280689 [Q969J3-1]
ENST00000627461; ENSP00000486584; ENSG00000280689 [Q969J3-2]
GeneIDi118426
KEGGihsa:118426
UCSCiuc001ral.3 human [Q969J3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY037865 mRNA Translation: AAK71328.1
AY037866 mRNA Translation: AAK71329.1
AK075028 mRNA Translation: BAC11360.1
CH471094 Genomic DNA Translation: EAW96257.1
CH471094 Genomic DNA Translation: EAW96258.1
BC013668 mRNA Translation: AAH13668.1
CCDSiCCDS81669.1 [Q969J3-2]
CCDS8649.1 [Q969J3-1]
RefSeqiNP_001287671.1, NM_001300742.2
NP_001317285.1, NM_001330356.1 [Q969J3-2]
NP_477517.1, NM_058169.5 [Q969J3-1]
UniGeneiHs.504805
Hs.720779

3D structure databases

ProteinModelPortaliQ969J3
SMRiQ969J3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125600, 16 interactors
IntActiQ969J3, 4 interactors
STRINGi9606.ENSP00000321546

PTM databases

iPTMnetiQ969J3
PhosphoSitePlusiQ969J3

Polymorphism and mutation databases

BioMutaiLOH12CR1
DMDMi74731048

Proteomic databases

EPDiQ969J3
MaxQBiQ969J3
PaxDbiQ969J3
PeptideAtlasiQ969J3
PRIDEiQ969J3
ProteomicsDBi75773
75774 [Q969J3-2]

Protocols and materials databases

DNASUi118426
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298571; ENSP00000298571; ENSG00000165714 [Q969J3-2]
ENST00000314565; ENSP00000321546; ENSG00000165714 [Q969J3-1]
ENST00000627374; ENSP00000486120; ENSG00000280689 [Q969J3-1]
ENST00000627461; ENSP00000486584; ENSG00000280689 [Q969J3-2]
GeneIDi118426
KEGGihsa:118426
UCSCiuc001ral.3 human [Q969J3-1]

Organism-specific databases

CTDi118426
EuPathDBiHostDB:ENSG00000165714.10
GeneCardsiBORCS5
HGNCiHGNC:17950 BORCS5
HPAiHPA039509
HPA043627
MIMi616598 gene
neXtProtiNX_Q969J3
OpenTargetsiENSG00000165714
PharmGKBiPA30421
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4515 Eukaryota
ENOG410YDKQ LUCA
GeneTreeiENSGT00390000015016
HOGENOMiHOG000007522
HOVERGENiHBG108081
InParanoidiQ969J3
KOiK20819
OMAiEPFSMRP
OrthoDBiEOG091G0OY0
PhylomeDBiQ969J3
TreeFamiTF316379

Miscellaneous databases

ChiTaRSiBORCS5 human
GenomeRNAii118426
PROiPR:Q969J3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165714 Expressed in 139 organ(s), highest expression level in oocyte
CleanExiHS_LOH12CR1
ExpressionAtlasiQ969J3 baseline and differential
GenevisibleiQ969J3 HS

Family and domain databases

InterProiView protein in InterPro
IPR018780 TBORCS5
PANTHERiPTHR31634 PTHR31634, 1 hit
PfamiView protein in Pfam
PF10158 LOH1CR12, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBORC5_HUMAN
AccessioniPrimary (citable) accession number: Q969J3
Secondary accession number(s): Q96QS5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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