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Q9BQD3 (KXDL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
KxDL motif-containing protein 1
Gene names
Name:KXD1
Synonyms:C19orf50
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length176 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in endosomal cargo sorting By similarity.

Subunit structure

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

Sequence similarities

Belongs to the KXD1 family.

Sequence caution

The sequence AAC25583.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processvesicle-mediated transport

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentBLOC-1 complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 16189514. Source: IntAct

Complete GO annotation...

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 176176KxDL motif-containing protein 1
PRO_0000295259

Amino acid modifications

Modified residue11N-acetylmethionine Ref.3

Natural variations

Natural variant1571P → A. Ref.2
Corresponds to variant rs7648 [ dbSNP | Ensembl ].
VAR_033282

Sequences

Sequence LengthMass (Da)Tools
Q9BQD3 [UniParc].

Last modified July 24, 2007. Version 2.
Checksum: 182BDB421BE2D3AA

FASTA17619,668
        10         20         30         40         50         60 
MDLPDSASRV FCGRILSMVN TDDVNAIILA QKNMLDRFEK TNEMLLNFNN LSSARLQQMS 

        70         80         90        100        110        120 
ERFLHHTRTL VEMKRDLDSI FRRIRTLKGK LARQHPEAFS HIPEASFLEE EDEDPIPPST 

       130        140        150        160        170 
TTTIATSEQS TGSCDTSPDT VSPSLSPGFE DLSHVQPGSP AINGRSQTDD EEMTGE 

« Hide

References

[1]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-157.
Tissue: Lung.
[3]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC005253 Genomic DNA. Translation: AAC25583.1. Different initiation.
BC001080 mRNA. Translation: AAH01080.1.
BC006479 mRNA. Translation: AAH06479.1.
CCDSCCDS12381.1.
RefSeqNP_001165419.1. NM_001171948.1.
NP_001165420.1. NM_001171949.1.
NP_076974.2. NM_024069.3.
XP_006722946.1. XM_006722883.1.
UniGeneHs.714548.

3D structure databases

ProteinModelPortalQ9BQD3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122501. 30 interactions.
IntActQ9BQD3. 34 interactions.
MINTMINT-1436809.
STRING9606.ENSP00000222307.

PTM databases

PhosphoSiteQ9BQD3.

Polymorphism databases

DMDM156631010.

Proteomic databases

MaxQBQ9BQD3.
PaxDbQ9BQD3.
PRIDEQ9BQD3.

Protocols and materials databases

DNASU79036.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222307; ENSP00000222307; ENSG00000105700.
ENST00000539106; ENSP00000438903; ENSG00000105700.
ENST00000540691; ENSP00000443549; ENSG00000105700.
ENST00000595073; ENSP00000471554; ENSG00000105700.
ENST00000599319; ENSP00000468990; ENSG00000105700.
ENST00000600654; ENSP00000472678; ENSG00000105700.
ENST00000602094; ENSP00000472836; ENSG00000105700.
GeneID79036.
KEGGhsa:79036.
UCSCuc002njo.3. human.

Organism-specific databases

CTD79036.
GeneCardsGC19P018669.
HGNCHGNC:28420. KXD1.
HPAHPA041507.
HPA041599.
MIM615178. gene.
neXtProtNX_Q9BQD3.
PharmGKBPA147358357.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG324810.
HOVERGENHBG056564.
InParanoidQ9BQD3.
OrthoDBEOG7ZSHVD.
PhylomeDBQ9BQD3.
TreeFamTF319035.

Gene expression databases

ArrayExpressQ9BQD3.
BgeeQ9BQD3.
CleanExHS_C19orf50.
GenevestigatorQ9BQD3.

Family and domain databases

InterProIPR019371. Uncharacterised_KxDL.
[Graphical view]
PfamPF10241. KxDL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSKXD1. human.
GenomeRNAi79036.
NextBio67761.
PROQ9BQD3.
SOURCESearch...

Entry information

Entry nameKXDL1_HUMAN
AccessionPrimary (citable) accession number: Q9BQD3
Secondary accession number(s): O76098
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: July 9, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Uncharacterized protein families (UPF)

List of uncharacterized protein family (UPF) entries

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM