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Protein

KxDL motif-containing protein 1

Gene

KXD1

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 (PubMed:25898167). May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity).By similarity1 Publication

GO - Biological processi

  • lysosome localization Source: UniProtKB
  • vesicle-mediated transport Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
KxDL motif-containing protein 1
Gene namesi
Name:KXD1
Synonyms:C19orf50
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105700.10.
HGNCiHGNC:28420. KXD1.

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

OpenTargetsiENSG00000105700.
PharmGKBiPA147358357.

Polymorphism and mutation databases

BioMutaiKXD1.
DMDMi156631010.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002952591 – 176KxDL motif-containing protein 1Add BLAST176

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9BQD3.
MaxQBiQ9BQD3.
PaxDbiQ9BQD3.
PeptideAtlasiQ9BQD3.
PRIDEiQ9BQD3.

PTM databases

iPTMnetiQ9BQD3.
PhosphoSitePlusiQ9BQD3.

Expressioni

Gene expression databases

BgeeiENSG00000105700.
CleanExiHS_C19orf50.
ExpressionAtlasiQ9BQD3. baseline and differential.
GenevisibleiQ9BQD3. HS.

Organism-specific databases

HPAiHPA041507.
HPA041599.

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). Associates with the BLOC-1 complex. Interacts with BLOC1S1. Interacts with DTNBP1/BLOC1S7 (via coiled-coil domain) (By similarity).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122501. 55 interactors.
IntActiQ9BQD3. 51 interactors.
MINTiMINT-1436809.
STRINGi9606.ENSP00000222307.

Structurei

3D structure databases

ProteinModelPortaliQ9BQD3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the KXD1 family.Curated

Phylogenomic databases

eggNOGiKOG3443. Eukaryota.
ENOG4111UUW. LUCA.
GeneTreeiENSGT00530000064192.
HOVERGENiHBG056564.
InParanoidiQ9BQD3.
KOiK20818.
PhylomeDBiQ9BQD3.
TreeFamiTF319035.

Family and domain databases

InterProiView protein in InterPro
IPR019371. Uncharacterised_KxDL.
PfamiView protein in Pfam
PF10241. KxDL. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9BQD3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDLPDSASRV FCGRILSMVN TDDVNAIILA QKNMLDRFEK TNEMLLNFNN
60 70 80 90 100
LSSARLQQMS ERFLHHTRTL VEMKRDLDSI FRRIRTLKGK LARQHPEAFS
110 120 130 140 150
HIPEASFLEE EDEDPIPPST TTTIATSEQS TGSCDTSPDT VSPSLSPGFE
160 170
DLSHVQPGSP AINGRSQTDD EEMTGE
Length:176
Mass (Da):19,668
Last modified:July 24, 2007 - v2
Checksum:i182BDB421BE2D3AA
GO

Sequence cautioni

The sequence AAC25583 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033282157P → A1 PublicationCorresponds to variant dbSNP:rs7648Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005253 Genomic DNA. Translation: AAC25583.1. Different initiation.
BC001080 mRNA. Translation: AAH01080.1.
BC006479 mRNA. Translation: AAH06479.1.
CCDSiCCDS12381.1.
RefSeqiNP_001165419.1. NM_001171948.1.
NP_001165420.1. NM_001171949.1.
NP_076974.2. NM_024069.3.
XP_006722946.1. XM_006722883.2.
XP_011526574.1. XM_011528272.2.
XP_011526575.1. XM_011528273.2.
XP_016882770.1. XM_017027281.1.
UniGeneiHs.714548.

Genome annotation databases

EnsembliENST00000222307; ENSP00000222307; ENSG00000105700.
ENST00000539106; ENSP00000438903; ENSG00000105700.
ENST00000540691; ENSP00000443549; ENSG00000105700.
ENST00000595073; ENSP00000471554; ENSG00000105700.
ENST00000599319; ENSP00000468990; ENSG00000105700.
ENST00000600654; ENSP00000472678; ENSG00000105700.
ENST00000602094; ENSP00000472836; ENSG00000105700.
GeneIDi79036.
KEGGihsa:79036.
UCSCiuc002njo.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKXDL1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQD3
Secondary accession number(s): O76098
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: September 27, 2017
This is version 120 of the entry and version 2 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. Human chromosome 19
    Human chromosome 19: 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
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries