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    DMXL1 Dmx like 1 [ Homo sapiens (human) ]

    Gene ID: 1657, updated on 6-Jun-2024

    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; 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
    NEW
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    Genomic context

    See DMXL1 in Genome Data Viewer
    Location:
    5q23.1
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (119071027..119249127)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (119584012..119769943)
    105.20220307 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

    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

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001290321.3NP_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: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_001349239.2NP_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: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 ...
    3. NM_001349240.2NP_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:27912836
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11421875
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      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 ...
    4. NM_001387933.1NP_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:27912836
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11421875
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      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_001387934.1NP_001374863.1  dmX-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC027320, AC118465
      UniProtKB/TrEMBL
      B2RWN7
      Conserved Domains (3) summary
      sd00039
      Location:27272772
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11421875
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:26832940
      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_001387937.1NP_001374866.1  dmX-like protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC027320, AC118465
      UniProtKB/TrEMBL
      B2RWN7
      Conserved Domains (3) summary
      sd00039
      Location:25562601
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:9071640
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:25122769
      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_001387938.1NP_001374867.1  dmX-like protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC027320, AC118465
      UniProtKB/TrEMBL
      B2RWN7
      Conserved Domains (3) summary
      sd00039
      Location:24832528
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:8131546
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:24392696
      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_005509.6NP_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:27912836
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11421875
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      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 ...

    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_2023_10

    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_011543213.3XP_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: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_017009145.2XP_016864634.1  dmX-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RWN7
      Conserved Domains (3) summary
      sd00039
      Location:27842829
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:10761809
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      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 ...
    3. XM_005271912.3XP_005271969.1  dmX-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RWN7
      Conserved Domains (3) summary
      sd00039
      Location:27842829
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:10761809
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      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 ...
    4. XM_005271910.6XP_005271967.1  dmX-like protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RWN7
      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 ...
    5. XM_047416834.1XP_047272790.1  dmX-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RWN7
    6. XM_047416835.1XP_047272791.1  dmX-like protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q9Y485
      UniProtKB/TrEMBL
      B2RWN7
    7. XM_005271909.5XP_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: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 ...
    8. XM_017009144.2XP_016864633.1  dmX-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RWN7
      Conserved Domains (3) summary
      sd00039
      Location:27842829
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:10761809
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      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_047416836.1XP_047272792.1  dmX-like protein 1 isoform X6

      UniProtKB/TrEMBL
      B2RWN7
    10. XM_047416838.1XP_047272794.1  dmX-like protein 1 isoform X9

      UniProtKB/TrEMBL
      B2RWN7
    11. XM_017009147.2XP_016864636.1  dmX-like protein 1 isoform X7

      UniProtKB/TrEMBL
      B2RWN7
    12. XM_017009146.2XP_016864635.1  dmX-like protein 1 isoform X5

      UniProtKB/TrEMBL
      B2RWN7
    13. XM_011543214.3XP_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: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 ...
    14. XM_011543215.3XP_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: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 ...
    15. XM_047416837.1XP_047272793.1  dmX-like protein 1 isoform X8

      UniProtKB/TrEMBL
      F1T0K4

    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_054351863.1XP_054207838.1  dmX-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RWN7
    2. XM_054351869.1XP_054207844.1  dmX-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RWN7
    3. XM_054351868.1XP_054207843.1  dmX-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RWN7
    4. XM_054351861.1XP_054207836.1  dmX-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RWN7
    5. XM_054351865.1XP_054207840.1  dmX-like protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RWN7
    6. XM_054351862.1XP_054207837.1  dmX-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RWN7
    7. XM_054351867.1XP_054207842.1  dmX-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RWN7
    8. XM_054351871.1XP_054207846.1  dmX-like protein 1 isoform X6

      UniProtKB/TrEMBL
      B2RWN7
    9. XM_054351876.1XP_054207851.1  dmX-like protein 1 isoform X9

      UniProtKB/TrEMBL
      B2RWN7
    10. XM_054351872.1XP_054207847.1  dmX-like protein 1 isoform X7

      UniProtKB/TrEMBL
      B2RWN7
    11. XM_054351864.1XP_054207839.1  dmX-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RWN7
    12. XM_054351866.1XP_054207841.1  dmX-like protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q9Y485
      UniProtKB/TrEMBL
      B2RWN7
    13. XM_054351870.1XP_054207845.1  dmX-like protein 1 isoform X5

      UniProtKB/TrEMBL
      B2RWN7
    14. XM_054351873.1XP_054207848.1  dmX-like protein 1 isoform X8

      UniProtKB/TrEMBL
      F1T0K4
    15. XM_054351875.1XP_054207850.1  dmX-like protein 1 isoform X8

      UniProtKB/TrEMBL
      F1T0K4
    16. XM_054351874.1XP_054207849.1  dmX-like protein 1 isoform X8

      UniProtKB/TrEMBL
      F1T0K4

    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.