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KXD1 KxDL motif containing 1 [ Homo sapiens (human) ]

Gene ID: 79036, updated on 7-Jun-2020

Summary

Official Symbol
KXD1provided by HGNC
Official Full Name
KxDL motif containing 1provided by HGNC
Primary source
HGNC:HGNC:28420
See related
Ensembl:ENSG00000105700 MIM:615178
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KXDL; BORCS4; MST096; MSTP096; C10orf50; C19orf50
Expression
Ubiquitous expression in testis (RPKM 13.1), placenta (RPKM 13.1) and 25 other tissues See more
Orthologs

Genomic context

See KXD1 in Genome Data Viewer
Location:
19p13.11
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18557762..18569387)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18668572..18680197)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene elongation factor for RNA polymerase II Neighboring gene Sharpr-MPRA regulatory region 11651 Neighboring gene FKBP prolyl isomerase 8 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 Neighboring gene Sharpr-MPRA regulatory region 11645 Neighboring gene required for excision 1-B domain containing Neighboring gene cytokine receptor like factor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of KxDL motif containing 1 (KXD1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2749, FLJ25480, FLJ43375, DKFZp686B1038

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
colocalizes_with BLOC-1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with BLOC-1 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
BORC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kxDL motif-containing protein 1
Names
BLOC-1 related complex subunit 4
UPF0459 protein C19orf50

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001171948.1NP_001165419.1  kxDL motif-containing protein 1

    See identical proteins and their annotated locations for NP_001165419.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC005253, AK098346, DA542130, DA616317
    Consensus CDS
    CCDS12381.1
    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Related
    ENSP00000443549.1, ENST00000540691.5
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein
  2. NM_001171949.1NP_001165420.1  kxDL motif-containing protein 1

    See identical proteins and their annotated locations for NP_001165420.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC005253, AK098346, BM781878, DA616317
    Consensus CDS
    CCDS12381.1
    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Related
    ENSP00000438903.1, ENST00000539106.5
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein
  3. NM_024069.4NP_076974.2  kxDL motif-containing protein 1

    See identical proteins and their annotated locations for NP_076974.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC005253, AK098346
    Consensus CDS
    CCDS12381.1
    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Related
    ENSP00000222307.3, ENST00000222307.9
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    18557762..18569387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722883.2XP_006722946.1  kxDL motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006722946.1

    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Related
    ENSP00000471554.1, ENST00000595073.5
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein
  2. XM_005260073.4XP_005260130.1  kxDL motif-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10241
    Location:1485
    KxDL; Uncharacterized conserved protein
  3. XM_011528272.2XP_011526574.1  kxDL motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526574.1

    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Related
    ENSP00000469294.1, ENST00000597438.5
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein
  4. XM_011528273.2XP_011526575.1  kxDL motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526575.1

    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein
  5. XM_017027281.1XP_016882770.1  kxDL motif-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9BQD3
    UniProtKB/TrEMBL
    A0A024R7M2
    Related
    ENSP00000472836.1, ENST00000602094.5
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein
  6. XM_017027282.1XP_016882771.1  kxDL motif-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10241
    Location:1485
    KxDL; Uncharacterized conserved protein
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