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Protein

BLOC-1-related complex subunit 5

Gene

BORCS5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165714-MONOMER.

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

HGNCiHGNC:17950. BORCS5.

Subcellular locationi

  • Lysosome membrane 1 Publication; Lipid-anchor 1 Publication; Cytoplasmic side 1 Publication

GO - Cellular componenti

  • BORC complex Source: UniProtKB
  • cytoplasmic side of lysosomal membrane Source: UniProtKB
  • intrinsic component of membrane Source: UniProtKB
Complete GO annotation...

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.
ENSG00000280689.
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.

PTM databases

iPTMnetiQ969J3.
PhosphoSitePlusiQ969J3.

Expressioni

Tissue specificityi

Ubiquitously expressed (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000165714.
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. 9 interactors.
IntActiQ969J3. 2 interactors.
MINTiMINT-1453811.
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.
OMAiLEPFSMR.
OrthoDBiEOG091G0OY0.
PhylomeDBiQ969J3.
TreeFamiTF316379.

Family and domain databases

InterProiIPR018780. Tumour_suppressor_LOH1CR12.
[Graphical view]
PfamiPF10158. LOH1CR12. 1 hit.
[Graphical view]

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03884041S → C.Corresponds to variant rs3741795dbSNPEnsembl.1
Natural variantiVAR_038841191D → N.Corresponds to variant rs3751262dbSNPEnsembl.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.
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

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.
NP_477517.1. NM_058169.5. [Q969J3-1]
UniGeneiHs.504805.
Hs.720779.

3D structure databases

ProteinModelPortaliQ969J3.
SMRiQ969J3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125600. 9 interactors.
IntActiQ969J3. 2 interactors.
MINTiMINT-1453811.
STRINGi9606.ENSP00000321546.

PTM databases

iPTMnetiQ969J3.
PhosphoSitePlusiQ969J3.

Polymorphism and mutation databases

BioMutaiLOH12CR1.
DMDMi74731048.

Proteomic databases

EPDiQ969J3.
MaxQBiQ969J3.
PaxDbiQ969J3.
PeptideAtlasiQ969J3.
PRIDEiQ969J3.

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.
GeneCardsiLOH12CR1.
HGNCiHGNC:17950. BORCS5.
HPAiHPA039509.
HPA043627.
MIMi616598. gene.
neXtProtiNX_Q969J3.
OpenTargetsiENSG00000165714.
ENSG00000280689.
PharmGKBiPA30421.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165714-MONOMER.

Miscellaneous databases

ChiTaRSiLOH12CR1. human.
GenomeRNAii118426.
PROiQ969J3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165714.
CleanExiHS_LOH12CR1.
ExpressionAtlasiQ969J3. baseline and differential.
GenevisibleiQ969J3. HS.

Family and domain databases

InterProiIPR018780. Tumour_suppressor_LOH1CR12.
[Graphical view]
PfamiPF10158. LOH1CR12. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBORC5_HUMAN
AccessioniPrimary (citable) accession number: Q969J3
Secondary accession number(s): Q96QS5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 111 of the entry and version 1 of the sequence. [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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.