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Protein

BLOC-1-related complex subunit 8

Gene

BORCS8

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.1 Publication

Caution

The gene for this protein is either identical to or adjacent to that of MEF2B. Some mRNAs that encode this protein also include MEF2B.Curated

GO - Biological processi

  • heart development Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
BLOC-1-related complex subunit 8Curated
Alternative name(s):
MEF2B neighborImported
Gene namesi
Name:BORCS8Imported
Synonyms:MEF2BNBImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000254901.7
HGNCiHGNC:37247 BORCS8
MIMi616601 gene
neXtProtiNX_Q96FH0

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

Organism-specific databases

OpenTargetsiENSG00000064489
ENSG00000254901

Polymorphism and mutation databases

DMDMi74731704

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002698431 – 119BLOC-1-related complex subunit 8Add BLAST119

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei109PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96FH0
PaxDbiQ96FH0
PeptideAtlasiQ96FH0
PRIDEiQ96FH0
ProteomicsDBi76530
76531 [Q96FH0-2]

PTM databases

iPTMnetiQ96FH0
PhosphoSitePlusiQ96FH0

Expressioni

Gene expression databases

BgeeiENSG00000254901
ExpressionAtlasiQ96FH0 baseline and differential
GenevisibleiQ96FH0 HS

Organism-specific databases

HPAiHPA045700

Interactioni

Subunit structurei

Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi610381, 7 interactors
IntActiQ96FH0, 6 interactors
STRINGi9606.ENSP00000457957

Structurei

3D structure databases

ProteinModelPortaliQ96FH0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BORCS8 family.Curated

Phylogenomic databases

eggNOGiKOG4523 Eukaryota
ENOG4111IE1 LUCA
GeneTreeiENSGT00390000011828
ENSGT00390000014856
HOVERGENiHBG094122
InParanoidiQ96FH0
KOiK20822
OrthoDBiEOG091G1BVZ
PhylomeDBiQ96FH0
TreeFamiTF313931

Family and domain databases

InterProiView protein in InterPro
IPR019320 BORCS8
PANTHERiPTHR21146 PTHR21146, 1 hit
PfamiView protein in Pfam
PF10167 BORCS8, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96FH0-1) [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
MEEPEMQLKG KKVTDKFTES VYVLANEPSV ALYRLQEHVR RSLPELAQHK
60 70 80 90 100
ADMQRWEEQS QGAIYTVEYA CSAVKNLVDS SVYFRSVEGL LKQAISIRDH
110
MNASAQGHSP EEPPPPSSA
Length:119
Mass (Da):13,403
Last modified:December 1, 2001 - v1
Checksum:i8D466C5E262FFA96
GO
Isoform 2 (identifier: Q96FH0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-109: S → R
     110-119: Missing.

Show »
Length:109
Mass (Da):12,483
Checksum:iA1094880EBD3489B
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022103109S → R in isoform 2. 1 Publication1
Alternative sequenceiVSP_022104110 – 119Missing in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC004449 mRNA Translation: AAH04449.1
BC010931 mRNA No translation available.
BC157837 mRNA Translation: AAI57838.1
BC157868 mRNA Translation: AAI57869.1
CCDSiCCDS46025.1 [Q96FH0-1]
CCDS54235.1 [Q96FH0-2]
RefSeqiNP_001139255.1, NM_001145783.1 [Q96FH0-2]
NP_001139256.1, NM_001145784.1 [Q96FH0-1]
UniGeneiHs.153629

Genome annotation databases

EnsembliENST00000462790; ENSP00000425864; ENSG00000254901 [Q96FH0-1]
ENST00000477565; ENSP00000424833; ENSG00000254901 [Q96FH0-2]
ENST00000488252; ENSP00000467744; ENSG00000254901 [Q96FH0-1]
GeneIDi729991
KEGGihsa:729991
UCSCiuc002nlq.4 human [Q96FH0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBORC8_HUMAN
AccessioniPrimary (citable) accession number: Q96FH0
Secondary accession number(s): B2RXF9, Q9BT01
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 102 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

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