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    MOV10L1 Mov10 like RNA helicase 1 [ Homo sapiens (human) ]

    Gene ID: 54456, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MOV10L1provided by HGNC
    Official Full Name
    Mov10 like RNA helicase 1provided by HGNC
    Primary source
    HGNC:HGNC:7201
    See related
    Ensembl:ENSG00000073146 MIM:605794; AllianceGenome:HGNC:7201
    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
    Also known as
    CHAMP; SPGF73; DJ402G11.8
    Summary
    This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
    Expression
    Restricted expression toward testis (RPKM 7.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See MOV10L1 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50090006..50161687)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50596905..50668447)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50528435..50600116)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13948 Neighboring gene tubulin tyrosine ligase like 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50510246-50511128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50511129-50512010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50512330-50512836 Neighboring gene modulator of VRAC current 1 Neighboring gene Sharpr-MPRA regulatory region 9327 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:50523503-50524127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19297 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50578307-50578491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50604117-50604668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50609993-50610685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50622054-50622629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13954 Neighboring gene pannexin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50628084-50628698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50628699-50629313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19305 Neighboring gene TraB domain containing Neighboring gene TRABD antisense RNA 1

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our results suggest that MOV10L1 gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.
      Title: Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 73
    MedGen: C5676988 OMIM: 619878 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33421, DKFZp434B0717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables RNA helicase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA helicase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in germ cell development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in male meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in piRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulatory ncRNA-mediated post-transcriptional gene silencing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transposable element silencing by piRNA-mediated DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in P granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in P granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in pi-body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    RNA helicase Mov10l1
    Names
    MOV10-like protein 1
    Mov10 RISC complex RNA helicase like 1
    Mov10 like RISC complex RNA helicase 1
    Mov10-like 1
    Mov10l1, Moloney leukemia virus 10-like 1, homolog
    cardiac helicase activated by MEF2C protein
    moloney leukemia virus 10-like protein 1
    putative helicase Mov10l1
    NP_001157576.1
    NP_001157577.1
    NP_001157578.1
    NP_061868.1
    XP_005261980.1
    XP_011528998.1
    XP_011528999.1
    XP_011529000.1
    XP_011529001.1
    XP_011529002.1
    XP_011529003.1
    XP_011529006.1
    XP_016884322.1
    XP_016884323.1
    XP_016884324.1
    XP_016884325.1
    XP_016884326.1
    XP_047297369.1
    XP_047297370.1
    XP_047297371.1
    XP_054181693.1
    XP_054181694.1
    XP_054181695.1
    XP_054181696.1
    XP_054181697.1
    XP_054181698.1
    XP_054181699.1
    XP_054181700.1
    XP_054181701.1
    XP_054181702.1
    XP_054181703.1
    XP_054181704.1
    XP_054181705.1
    XP_054181706.1
    XP_054181707.1
    XP_054181708.1

    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_001164104.2 → NP_001157576.1  RNA helicase Mov10l1 isoform 2

      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.
      Source sequence(s)
      AF285604, AL022328, BC150137, DB451595
      Consensus CDS
      CCDS54541.1
      UniProtKB/TrEMBL
      B9EIS3
      Related
      ENSP00000379199.3, ENST00000395858.7
      Conserved Domains (2) summary
      cd18808
      Location:974 → 1108
      SF1_C_Upf1; C-terminal helicase domain of Upf1-like family helicases
      cd18078
      Location:744 → 973
      DEXXQc_Mov10L1; DEXXQ-box helicase domain of Mov10L1

    2. NM_001164105.2 → NP_001157577.1  RNA helicase Mov10l1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AF285604, AK302401, AL022328, AL034546
      Consensus CDS
      CCDS54542.1
      UniProtKB/TrEMBL
      B9EIS3
      Related
      ENSP00000438542.1, ENST00000540615.5
      Conserved Domains (3) summary
      COG1112
      Location:406 → 1143
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:913 → 1129
      AAA_12; AAA domain
      cl21455
      Location:724 → 902
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001164106.1 → NP_001157578.1  RNA helicase Mov10l1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF285604, AK000033, BP382225
      Consensus CDS
      CCDS54543.1
      UniProtKB/Swiss-Prot
      Q9BXT6
      Related
      ENSP00000379193.1, ENST00000395852.5
      Conserved Domains (3) summary
      COG1112
      Location:2 → 299
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:60 → 276
      AAA_12; AAA domain
      cl21455
      Location:10 → 49
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_018995.3 → NP_061868.1  RNA helicase Mov10l1 isoform 1

      See identical proteins and their annotated locations for NP_061868.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF285604, AL022328, DB451595
      Consensus CDS
      CCDS14084.1
      UniProtKB/Swiss-Prot
      A7E211, A8MXC6, B7WPP1, B7Z7R1, F5H403, Q5TGD5, Q8NBD4, Q9BXT6, Q9NXW3, Q9UFB3, Q9UGX9
      UniProtKB/TrEMBL
      B9EIS3
      Related
      ENSP00000262794.5, ENST00000262794.10
      Conserved Domains (3) summary
      COG1112
      Location:426 → 1172
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:933 → 1149
      AAA_12; AAA domain
      cl21455
      Location:744 → 922
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50090006..50161687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530697.2 → XP_011528999.1  RNA helicase Mov10l1 isoform X2

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      COG1112
      Location:406 → 1197
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:913 → 1174
      AAA_12; AAA domain
      cl21455
      Location:724 → 902
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_005261923.5 → XP_005261980.1  RNA helicase Mov10l1 isoform X6

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      COG1112
      Location:406 → 1152
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:913 → 1129
      AAA_12; AAA domain
      cl21455
      Location:724 → 902
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_011530696.2 → XP_011528998.1  RNA helicase Mov10l1 isoform X1

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      COG1112
      Location:426 → 1217
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:933 → 1194
      AAA_12; AAA domain
      cl21455
      Location:744 → 922
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_017028833.2 → XP_016884322.1  RNA helicase Mov10l1 isoform X3

      UniProtKB/TrEMBL
      B9EIS3

    5. XM_011530698.2 → XP_011529000.1  RNA helicase Mov10l1 isoform X4

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      COG1112
      Location:379 → 1170
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:886 → 1147
      AAA_12; AAA domain
      cl21455
      Location:697 → 875
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_011530701.1 → XP_011529003.1  RNA helicase Mov10l1 isoform X7

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      pfam13086
      Location:745 → 926
      AAA_11; AAA domain
      cl21455
      Location:744 → 922
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl22977
      Location:933 → 1072
      UvrD_C_2; UvrD-like helicase C-terminal domain

    7. XM_047441414.1 → XP_047297370.1  RNA helicase Mov10l1 isoform X9

    8. XM_011530704.1 → XP_011529006.1  RNA helicase Mov10l1 isoform X12

    9. XM_017028834.2 → XP_016884323.1  RNA helicase Mov10l1 isoform X10

      Conserved Domains (1) summary
      pfam14444
      Location:196 → 240
      S1-like; S1-like

    10. XM_017028837.1 → XP_016884326.1  RNA helicase Mov10l1 isoform X13

      Conserved Domains (1) summary
      pfam14444
      Location:196 → 240
      S1-like; S1-like

    11. XM_011530699.2 → XP_011529001.1  RNA helicase Mov10l1 isoform X5

      See identical proteins and their annotated locations for XP_011529001.1

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      COG1112
      Location:374 → 1165
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:881 → 1142
      AAA_12; AAA domain
      cl21455
      Location:692 → 870
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    12. XM_011530700.3 → XP_011529002.1  RNA helicase Mov10l1 isoform X5

      See identical proteins and their annotated locations for XP_011529002.1

      UniProtKB/TrEMBL
      B9EIS3
      Conserved Domains (3) summary
      COG1112
      Location:374 → 1165
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13087
      Location:881 → 1142
      AAA_12; AAA domain
      cl21455
      Location:692 → 870
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    13. XM_047441413.1 → XP_047297369.1  RNA helicase Mov10l1 isoform X8

    14. XM_017028835.2 → XP_016884324.1  RNA helicase Mov10l1 isoform X11

      Conserved Domains (3) summary
      pfam13086
      Location:219 → 400
      AAA_11; AAA domain
      pfam13087
      Location:407 → 668
      AAA_12; AAA domain
      cl21455
      Location:218 → 396
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    15. XM_047441415.1 → XP_047297371.1  RNA helicase Mov10l1 isoform X11

    16. XM_017028836.2 → XP_016884325.1  RNA helicase Mov10l1 isoform X11

      Conserved Domains (3) summary
      pfam13086
      Location:219 → 400
      AAA_11; AAA domain
      pfam13087
      Location:407 → 668
      AAA_12; AAA domain
      cl21455
      Location:218 → 396
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50596905..50668447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325719.1 → XP_054181694.1  RNA helicase Mov10l1 isoform X2

    2. XM_054325724.1 → XP_054181699.1  RNA helicase Mov10l1 isoform X6

    3. XM_054325718.1 → XP_054181693.1  RNA helicase Mov10l1 isoform X1

    4. XM_054325720.1 → XP_054181695.1  RNA helicase Mov10l1 isoform X3

    5. XM_054325721.1 → XP_054181696.1  RNA helicase Mov10l1 isoform X4

    6. XM_054325725.1 → XP_054181700.1  RNA helicase Mov10l1 isoform X7

    7. XM_054325727.1 → XP_054181702.1  RNA helicase Mov10l1 isoform X9

    8. XM_054325732.1 → XP_054181707.1  RNA helicase Mov10l1 isoform X12

    9. XM_054325728.1 → XP_054181703.1  RNA helicase Mov10l1 isoform X10

    10. XM_054325733.1 → XP_054181708.1  RNA helicase Mov10l1 isoform X13

    11. XM_054325722.1 → XP_054181697.1  RNA helicase Mov10l1 isoform X5

    12. XM_054325723.1 → XP_054181698.1  RNA helicase Mov10l1 isoform X5

    13. XM_054325726.1 → XP_054181701.1  RNA helicase Mov10l1 isoform X8

    14. XM_054325730.1 → XP_054181705.1  RNA helicase Mov10l1 isoform X11

    15. XM_054325729.1 → XP_054181704.1  RNA helicase Mov10l1 isoform X11

    16. XM_054325731.1 → XP_054181706.1  RNA helicase Mov10l1 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXT6.1 GenPept UniProtKB/Swiss-Prot:Q9BXT6

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