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DMXL1 Dmx like 1 [ Homo sapiens (human) ]

Gene ID: 1657, updated on 2-Nov-2024

Summary

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Official Symbol
DMXL1provided by HGNC
Official Full Name
Dmx like 1provided by HGNC
Primary source
HGNC:HGNC:2937
See related
Ensembl:ENSG00000172869 MIM:605671; AllianceGenome:HGNC:2937
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
mouse all
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Genomic context

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See DMXL1 in Genome Data Viewer
Location:
5q23.1
Exon count:
47
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (119071027..119249127)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (119584012..119769943)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (118406722..118584822)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene DMXL1 divergent transcript Neighboring gene CATSPER2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:118374017-118374522 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:118385414-118385914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22958 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16263 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:118456778-118457628 Neighboring gene septin 7 pseudogene 10 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 H3K27ac hESC enhancer GRCh37_chr5:118591447-118592003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118609555-118610054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22968 Neighboring gene TNF alpha induced protein 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22969 Neighboring gene RNA, 7SL, cytoplasmic 174, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118664591-118665278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22973 Neighboring gene uncharacterized LOC102723444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16265

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

Bibliography

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Related articles in PubMed

  1. Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein. Kraemer C, et al. Genomics, 2000 Feb 15. PMID 10708522
  2. Copy number variations and primary open-angle glaucoma. Davis LK, et al. Invest Ophthalmol Vis Sci, 2011. PMID 21310917, Free PMC Article
  3. Gene profiling of growth factor independence 1B gene (Gfi-1B) in leukemic cells. Koldehoff M, et al. Int J Hematol, 2008 Jan. PMID 18224412
  4. Identification of novel genes associated with astrocytoma progression using suppression subtractive hybridization and real-time reverse transcription-polymerase chain reaction. van den Boom J, et al. Int J Cancer, 2006 Nov 15. PMID 16865689
  5. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. Sherva R, et al. Alzheimers Dement, 2014 Jan. PMID 23535033, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44772, DKFZp779O1239

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
dmX-like protein 1

NCBI Reference Sequences (RefSeq)

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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_001290321.3 → NP_001277250.1  dmX-like protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB593142, AJ005821, BC144537, BM828759
    Consensus CDS
    CCDS75289.1
    UniProtKB/TrEMBL
    B2RWN7, F5H269
    Related
    ENSP00000439479.1, ENST00000539542.6
    Conserved Domains (3) summary
    sd00039
    Location:2812 → 2857
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    cl25539
    Location:2768 → 3025
    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_001349239.2 → NP_001336168.1  dmX-like protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB593142, AJ005821, BC144537, CN291868
    Consensus CDS
    CCDS75289.1
    UniProtKB/TrEMBL
    B2RWN7, F5H269
    Conserved Domains (3) summary
    sd00039
    Location:2812 → 2857
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    cl25539
    Location:2768 → 3025
    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_001349240.2 → NP_001336169.1  dmX-like protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465
    Consensus CDS
    CCDS4125.1
    UniProtKB/Swiss-Prot
    Q9Y485
    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2791 → 2836
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2747 → 3004
    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_001387933.1 → NP_001374862.1  dmX-like protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465
    Consensus CDS
    CCDS4125.1
    UniProtKB/Swiss-Prot
    Q9Y485
    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2791 → 2836
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2747 → 3004
    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_001387934.1 → NP_001374863.1  dmX-like protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465
    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2727 → 2772
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2683 → 2940
    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. NM_001387937.1 → NP_001374866.1  dmX-like protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465
    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2556 → 2601
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:907 → 1640
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2512 → 2769
    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. NM_001387938.1 → NP_001374867.1  dmX-like protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465
    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2483 → 2528
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:813 → 1546
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2439 → 2696
    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. NM_005509.6 → NP_005500.4  dmX-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_005500.4

    Status: REVIEWED

    Source sequence(s)
    AB593142, AC027320, AC118465, AJ005821
    Consensus CDS
    CCDS4125.1
    UniProtKB/Swiss-Prot
    Q9Y485
    UniProtKB/TrEMBL
    B2RWN7
    Related
    ENSP00000309690.8, ENST00000311085.8
    Conserved Domains (3) summary
    sd00039
    Location:2791 → 2836
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2747 → 3004
    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. NR_170867.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465

  2. NR_170868.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465

  3. NR_170869.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC027320, AC118465

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    119071027..119249127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543213.3 → XP_011541515.1  dmX-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541515.1

    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (4) summary
    COG2319
    Location:2839 → 3081
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2850 → 2895
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2806 → 3063
    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_017009145.2 → XP_016864634.1  dmX-like protein 1 isoform X4

    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2784 → 2829
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1076 → 1809
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2740 → 2997
    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_005271912.3 → XP_005271969.1  dmX-like protein 1 isoform X4

    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2784 → 2829
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1076 → 1809
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2740 → 2997
    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_005271910.6 → XP_005271967.1  dmX-like protein 1 isoform X2

    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (4) summary
    COG2319
    Location:2818 → 3060
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2829 → 2874
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2785 → 3042
    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. XM_047416834.1 → XP_047272790.1  dmX-like protein 1 isoform X1

  6. XM_047416835.1 → XP_047272791.1  dmX-like protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q9Y485

  7. XM_005271909.5 → XP_005271966.1  dmX-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005271966.1

    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (4) summary
    COG2319
    Location:2839 → 3081
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:1142 → 1875
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2850 → 2895
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2806 → 3063
    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_017009144.2 → XP_016864633.1  dmX-like protein 1 isoform X4

    UniProtKB/TrEMBL
    B2RWN7
    Conserved Domains (3) summary
    sd00039
    Location:2784 → 2829
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1076 → 1809
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2740 → 2997
    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_047416836.1 → XP_047272792.1  dmX-like protein 1 isoform X6

  10. XM_047416838.1 → XP_047272794.1  dmX-like protein 1 isoform X9

  11. XM_017009147.2 → XP_016864636.1  dmX-like protein 1 isoform X7

    UniProtKB/TrEMBL
    B2RWN7

  12. XM_017009146.2 → XP_016864635.1  dmX-like protein 1 isoform X5

    UniProtKB/TrEMBL
    B2RWN7

  13. XM_011543214.3 → XP_011541516.1  dmX-like protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011541516.1

    UniProtKB/TrEMBL
    F1T0K4
    Conserved Domains (4) summary
    COG2319
    Location:2666 → 2908
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:969 → 1702
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2677 → 2722
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2633 → 2890
    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 ...

  14. XM_011543215.3 → XP_011541517.1  dmX-like protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011541517.1

    UniProtKB/TrEMBL
    F1T0K4
    Conserved Domains (4) summary
    COG2319
    Location:2666 → 2908
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:969 → 1702
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2677 → 2722
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2633 → 2890
    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 ...

  15. XM_047416837.1 → XP_047272793.1  dmX-like protein 1 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    119584012..119769943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351863.1 → XP_054207838.1  dmX-like protein 1 isoform X1

  2. XM_054351869.1 → XP_054207844.1  dmX-like protein 1 isoform X4

  3. XM_054351868.1 → XP_054207843.1  dmX-like protein 1 isoform X4

  4. XM_054351861.1 → XP_054207836.1  dmX-like protein 1 isoform X1

  5. XM_054351865.1 → XP_054207840.1  dmX-like protein 1 isoform X2

  6. XM_054351862.1 → XP_054207837.1  dmX-like protein 1 isoform X1

  7. XM_054351867.1 → XP_054207842.1  dmX-like protein 1 isoform X4

  8. XM_054351871.1 → XP_054207846.1  dmX-like protein 1 isoform X6

  9. XM_054351876.1 → XP_054207851.1  dmX-like protein 1 isoform X9

  10. XM_054351872.1 → XP_054207847.1  dmX-like protein 1 isoform X7

  11. XM_054351864.1 → XP_054207839.1  dmX-like protein 1 isoform X1

  12. XM_054351866.1 → XP_054207841.1  dmX-like protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q9Y485

  13. XM_054351870.1 → XP_054207845.1  dmX-like protein 1 isoform X5

  14. XM_054351873.1 → XP_054207848.1  dmX-like protein 1 isoform X8

  15. XM_054351875.1 → XP_054207850.1  dmX-like protein 1 isoform X8

  16. XM_054351874.1 → XP_054207849.1  dmX-like protein 1 isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001290322.3: Suppressed sequence

    Description
    NM_001290322.3: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y485.3 GenPept UniProtKB/Swiss-Prot:Q9Y485

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