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

Gene ID: 54456, updated on 3-Apr-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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Location:
22q13.33
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50090006..50161687)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50596905..50668447)
105.20220307 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
  • 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. Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest. Sarkardeh H, et al. J Assist Reprod Genet, 2014 Jul. PMID 24817005, Free PMC Article
  2. Helicase structure and mechanism. Caruthers JM, et al. Curr Opin Struct Biol, 2002 Feb. PMID 11839499
  3. A genome-wide association study of behavioral disinhibition. McGue M, et al. Behav Genet, 2013 Sep. PMID 23942779, Free PMC Article
  4. An abundance of X-linked genes expressed in spermatogonia. Wang PJ, et al. Nat Genet, 2001 Apr. PMID 11279525
  5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

See all (18) citations in PubMed

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)

Genotypes

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 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 magnesium ion binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
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 siRNA-mediated retrotransposon silencing by heterochromatin formation ISS
Inferred from Sequence or Structural Similarity
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
  
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_2023_10

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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