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DMXL1 Dmx like 1 [ Homo sapiens (human) ]

Gene ID: 1657, updated on 17-Jun-2019

Summary

Official Symbol
DMXL1provided by HGNC
Official Full Name
Dmx like 1provided by HGNC
Primary source
HGNC:HGNC:2937
See related
Ensembl:ENSG00000172869 MIM:605671
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 7.3) and 25 other tissues See more
Orthologs

Genomic context

See DMXL1 in Genome Data Viewer
Location:
5q23.1
Exon count:
47
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (119071002..119249432)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (118406839..118584822)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene DTW domain containing 2 Neighboring gene uncharacterized LOC105379143 Neighboring gene microRNA 1244-2 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene cation channel sperm associated 2 pseudogene Neighboring gene prothymosin alpha pseudogene 2 Neighboring gene septin 7 pseudogene Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 701, pseudogene Neighboring gene microRNA 5706 Neighboring gene TNF alpha induced protein 8 Neighboring gene RNA, 7SL, cytoplasmic 174, pseudogene Neighboring gene uncharacterized LOC102723444

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 Dmx-like 1 (DMXL1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
Knockdown of Dmx-like 1 (DMXL1) 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

  • FLJ44772, DKFZp779O1239

Gene Ontology Provided by GOA

Process Evidence Code Pubs
vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
RAVE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001290321.2NP_001277250.1  dmX-like protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 4 encode the same isoform (2).
    Source sequence(s)
    AA876135, AB593142, AJ005821, BC144537, BM828759
    Consensus CDS
    CCDS75289.1
    UniProtKB/Swiss-Prot
    Q9Y485
    UniProtKB/TrEMBL
    B2RWN7, F1T0K4, F5H269
    Related
    ENSP00000439479.1, ENST00000539542.5
    Conserved Domains (3) summary
    sd00039
    Location:28122857
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    cl25539
    Location:27683025
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001290322.3NP_001277251.1  dmX-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001277251.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, has multiple differences in the coding region, and uses a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus and lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AB593142, AC118465, AJ005821, BC144537
    UniProtKB/Swiss-Prot
    Q9Y485
    UniProtKB/TrEMBL
    B2RWN7, F1T0K4
    Conserved Domains (4) summary
    COG2319
    Location:26072849
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:9691702
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:26182663
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:25742831
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001349239.2NP_001336168.1  dmX-like protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AB593142, AJ005821, BC144537, CN291868
    Consensus CDS
    CCDS75289.1
    Conserved Domains (3) summary
    sd00039
    Location:28122857
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    cl25539
    Location:27683025
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. NM_001349240.1NP_001336169.1  dmX-like protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AA876135, AB593142, AC027320, AC118465, AJ005821
    Consensus CDS
    CCDS4125.1
    Conserved Domains (3) summary
    sd00039
    Location:27912836
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    cl25539
    Location:27473004
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. NM_005509.6NP_005500.4  dmX-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_005500.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AB593142, AC027320, AC118465, AJ005821
    Consensus CDS
    CCDS4125.1
    UniProtKB/Swiss-Prot
    Q9Y485
    UniProtKB/TrEMBL
    F1T0K4
    Related
    ENSP00000309690.8, ENST00000311085.8
    Conserved Domains (3) summary
    sd00039
    Location:27912836
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    cl25539
    Location:27473004
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens 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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    119071002..119249432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543213.2XP_011541515.1  dmX-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541515.1

    Conserved Domains (4) summary
    COG2319
    Location:28393081
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:28502895
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:28063063
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_011543212.2XP_011541514.1  dmX-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541514.1

    Conserved Domains (4) summary
    COG2319
    Location:28393081
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:28502895
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:28063063
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_005271910.5XP_005271967.1  dmX-like protein 1 isoform X2

    Conserved Domains (4) summary
    COG2319
    Location:28183060
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:28292874
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:27853042
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. XM_017009147.1XP_016864636.1  dmX-like protein 1 isoform X5

  5. XM_017009145.1XP_016864634.1  dmX-like protein 1 isoform X3

    Conserved Domains (4) summary
    COG2319
    Location:27733015
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:10761809
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:27842829
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:27402997
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. XM_005271909.4XP_005271966.1  dmX-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005271966.1

    Conserved Domains (4) summary
    COG2319
    Location:28393081
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:11421875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:28502895
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:28063063
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  7. XM_017009148.1XP_016864637.1  dmX-like protein 1 isoform X6

    Conserved Domains (4) summary
    COG2319
    Location:26662908
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:9691702
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:26772722
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26332890
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  8. XM_017009143.1XP_016864632.1  dmX-like protein 1 isoform X3

    Conserved Domains (4) summary
    COG2319
    Location:27733015
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:10761809
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:27842829
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:27402997
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  9. XM_017009146.1XP_016864635.1  dmX-like protein 1 isoform X4

  10. XM_017009144.1XP_016864633.1  dmX-like protein 1 isoform X3

    Conserved Domains (4) summary
    COG2319
    Location:27733015
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:10761809
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:27842829
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:27402997
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  11. XM_005271912.2XP_005271969.1  dmX-like protein 1 isoform X3

    Conserved Domains (4) summary
    COG2319
    Location:27733015
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:10761809
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:27842829
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:27402997
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  12. XM_011543214.2XP_011541516.1  dmX-like protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011541516.1

    Conserved Domains (4) summary
    COG2319
    Location:26662908
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:9691702
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:26772722
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26332890
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  13. XM_011543215.2XP_011541517.1  dmX-like protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011541517.1

    Conserved Domains (4) summary
    COG2319
    Location:26662908
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:9691702
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:26772722
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26332890
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. XR_001742026.2 RNA Sequence

  2. XR_948239.2 RNA Sequence

  3. XR_001742027.2 RNA Sequence

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