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Q9BQD3

- KXDL1_HUMAN

UniProt

Q9BQD3 - KXDL1_HUMAN

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Protein

KxDL motif-containing protein 1

Gene

KXD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

Involved in endosomal cargo sorting.By similarity

GO - Biological processi

  1. vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:28420. KXD1.

Subcellular locationi

GO - Cellular componenti

  1. BLOC-1 complex Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147358357.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 176176KxDL motif-containing protein 1PRO_0000295259Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9BQD3.
PaxDbiQ9BQD3.
PRIDEiQ9BQD3.

PTM databases

PhosphoSiteiQ9BQD3.

Expressioni

Gene expression databases

BgeeiQ9BQD3.
CleanExiHS_C19orf50.
ExpressionAtlasiQ9BQD3. baseline and differential.
GenevestigatoriQ9BQD3.

Organism-specific databases

HPAiHPA041507.
HPA041599.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
IFT20Q8IY312EBI-739657,EBI-744203
KRT81Q145332EBI-739657,EBI-739648
RABGEF1Q9UJ412EBI-739657,EBI-913954

Protein-protein interaction databases

BioGridi122501. 33 interactions.
IntActiQ9BQD3. 34 interactions.
MINTiMINT-1436809.
STRINGi9606.ENSP00000222307.

Structurei

3D structure databases

ProteinModelPortaliQ9BQD3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the KXD1 family.Curated

Phylogenomic databases

eggNOGiNOG324810.
GeneTreeiENSGT00530000064192.
HOVERGENiHBG056564.
InParanoidiQ9BQD3.
OrthoDBiEOG7ZSHVD.
PhylomeDBiQ9BQD3.
TreeFamiTF319035.

Family and domain databases

InterProiIPR019371. Uncharacterised_KxDL.
[Graphical view]
PfamiPF10241. KxDL. 1 hit.
[Graphical view]

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti157 – 1571P → A.1 Publication
Corresponds to variant rs7648 [ dbSNP | Ensembl ].
VAR_033282

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_006722883.1.
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.3. human.

Polymorphism databases

DMDMi156631010.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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 .
CCDSi CCDS12381.1.
RefSeqi NP_001165419.1. NM_001171948.1.
NP_001165420.1. NM_001171949.1.
NP_076974.2. NM_024069.3.
XP_006722946.1. XM_006722883.1.
UniGenei Hs.714548.

3D structure databases

ProteinModelPortali Q9BQD3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122501. 33 interactions.
IntActi Q9BQD3. 34 interactions.
MINTi MINT-1436809.
STRINGi 9606.ENSP00000222307.

PTM databases

PhosphoSitei Q9BQD3.

Polymorphism databases

DMDMi 156631010.

Proteomic databases

MaxQBi Q9BQD3.
PaxDbi Q9BQD3.
PRIDEi Q9BQD3.

Protocols and materials databases

DNASUi 79036.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000222307 ; ENSP00000222307 ; ENSG00000105700 .
ENST00000539106 ; ENSP00000438903 ; ENSG00000105700 .
ENST00000540691 ; ENSP00000443549 ; ENSG00000105700 .
ENST00000595073 ; ENSP00000471554 ; ENSG00000105700 .
ENST00000599319 ; ENSP00000468990 ; ENSG00000105700 .
ENST00000600654 ; ENSP00000472678 ; ENSG00000105700 .
ENST00000602094 ; ENSP00000472836 ; ENSG00000105700 .
GeneIDi 79036.
KEGGi hsa:79036.
UCSCi uc002njo.3. human.

Organism-specific databases

CTDi 79036.
GeneCardsi GC19P018670.
HGNCi HGNC:28420. KXD1.
HPAi HPA041507.
HPA041599.
MIMi 615178. gene.
neXtProti NX_Q9BQD3.
PharmGKBi PA147358357.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324810.
GeneTreei ENSGT00530000064192.
HOVERGENi HBG056564.
InParanoidi Q9BQD3.
OrthoDBi EOG7ZSHVD.
PhylomeDBi Q9BQD3.
TreeFami TF319035.

Miscellaneous databases

ChiTaRSi KXD1. human.
GenomeRNAii 79036.
NextBioi 67761.
PROi Q9BQD3.
SOURCEi Search...

Gene expression databases

Bgeei Q9BQD3.
CleanExi HS_C19orf50.
ExpressionAtlasi Q9BQD3. baseline and differential.
Genevestigatori Q9BQD3.

Family and domain databases

InterProi IPR019371. Uncharacterised_KxDL.
[Graphical view ]
Pfami PF10241. KxDL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiKXDL1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQD3
Secondary accession number(s): O76098
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: October 29, 2014
This is version 95 of the entry and version 2 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 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

External Data

Dasty 3