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    FIGNL1 fidgetin like 1 [ Homo sapiens (human) ]

    Gene ID: 63979, updated on 18-Nov-2024

    Summary

    Official Symbol
    FIGNL1provided by HGNC
    Official Full Name
    fidgetin like 1provided by HGNC
    Primary source
    HGNC:HGNC:13286
    See related
    Ensembl:ENSG00000132436 MIM:615383; AllianceGenome:HGNC:13286
    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
    This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in lymph node (RPKM 1.9), appendix (RPKM 1.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FIGNL1 in Genome Data Viewer
    Location:
    7p12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (50444133..50450350, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50605348..50611565, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50511831..50518048, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene IKAROS family zinc finger 1 Neighboring gene uncharacterized LOC124901631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50477534-50478034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26007 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:50488572-50489105 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:50514049-50515248 Neighboring gene RNA, U6 small nuclear 1091, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18183 Neighboring gene VISTA enhancer hs2059 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr7:50569579-50570080 and GRCh37_chr7:50570081-50570580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50581285-50581919 Neighboring gene dopa decarboxylase Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_99424 and experimental_99425 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:50598907-50600106 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:50602470-50603669 Neighboring gene DDC antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:50637965-50638490 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99443 Neighboring gene growth factor receptor bound protein 10 Neighboring gene uncharacterized LOC124901632

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables ATP-dependent H2AZ histone chaperone activity  
    enables ATP-dependent H3-H4 histone complex chaperone activity  
    enables DNA clamp loader activity  
    enables chromatin extrusion motor activity  
    enables cohesin loader activity  
    enables hydrolase activity  
    enables magnesium ion binding  
    enables microtubule severing ATPase activity  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in ATP metabolic process  
    involved_in cellular response to ionizing radiation PubMed 
    involved_in chromatin looping  
    involved_in chromatin remodeling  
    involved_in male meiotic nuclear division  
    involved_in microtubule cytoskeleton organization  
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of intrinsic apoptotic signaling pathway  
    involved_in osteoblast differentiation  
    involved_in osteoblast proliferation  
    involved_in regulation of cell cycle  
    involved_in regulation of double-strand break repair via homologous recombination PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm  
    located_in extracellular exosome PubMed 
    located_in nuclear chromosome PubMed 
    located_in nucleoplasm  
    located_in nucleus  
    located_in perinuclear region of cytoplasm  

    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.

    Genomic

    1. NG_051949.1 RefSeqGene

      Range
      5057..11274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042762.5NP_001036227.1  fidgetin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001036227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Related
      ENSP00000349356.4, ENST00000356889.8
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    2. NM_001287492.4NP_001274421.1  fidgetin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001274421.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longer isoform (1). Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Related
      ENSP00000399997.1, ENST00000433017.6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    3. NM_001287493.3NP_001274422.1  fidgetin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001274422.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Related
      ENSP00000483543.1, ENST00000615084.4
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    4. NM_001287494.4NP_001274423.1  fidgetin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001274423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    5. NM_001287495.3NP_001274424.1  fidgetin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001274424.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Related
      ENSP00000483126.1, ENST00000617389.4
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    6. NM_001287496.4NP_001274425.1  fidgetin-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001274425.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and includes additional splice sites in the 5' coding region resulting in translation initiation from a downstream start codon, compared to variant 3. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1. Variants 7-9 encode the same isoform (2).
      Source sequence(s)
      AC018705
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (3) summary
      smart00382
      Location:322458
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:326456
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:520560
      Vps4_C; Vps4 C terminal oligomerization domain
    7. NM_001346558.3NP_001333487.1  fidgetin-like protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and includes additional splice sites in the 5' coding region resulting in translation initiation from a downstream start codon, compared to variant 3. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1. Variants 7-9 encode the same isoform (2).
      Source sequence(s)
      AC018705
      UniProtKB/TrEMBL
      B3KNH6
    8. NM_001346559.3NP_001333488.1  fidgetin-like protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and includes additional splice sites in the 5' coding region resulting in translation initiation from a downstream start codon, compared to variant 3. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1. Variants 7-9 encode the same isoform (2).
      Source sequence(s)
      AC018705
      UniProtKB/TrEMBL
      B3KNH6
    9. NM_001346560.3NP_001333489.1  fidgetin-like protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    10. NM_001346561.3NP_001333490.1  fidgetin-like protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    11. NM_001346562.3NP_001333491.1  fidgetin-like protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    12. NM_001346563.3NP_001333492.1  fidgetin-like protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    13. NM_001346564.3NP_001333493.1  fidgetin-like protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    14. NM_001346565.3NP_001333494.1  fidgetin-like protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    15. NM_022116.7NP_071399.2  fidgetin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_071399.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1-6 and 10-15 encode the same isoform (1).
      Source sequence(s)
      AC018705
      Consensus CDS
      CCDS5510.1
      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Related
      ENSP00000378924.2, ENST00000395556.6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      50444133..50450350 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446865.2XP_024302633.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    2. XM_024446863.2XP_024302631.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    3. XM_024446864.2XP_024302632.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    4. XM_011515470.4XP_011513772.1  fidgetin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011513772.1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    5. XM_047420693.1XP_047276649.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      Related
      ENSP00000410811.1, ENST00000419119.1
    6. XM_017012501.2XP_016867990.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
      UniProtKB/TrEMBL
      B3KNH6
      Conserved Domains (1) summary
      COG0464
      Location:374668
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      50605348..50611565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358782.1XP_054214757.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
    2. XM_054358780.1XP_054214755.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
    3. XM_054358781.1XP_054214756.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
    4. XM_054358779.1XP_054214754.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
    5. XM_054358777.1XP_054214752.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
    6. XM_054358778.1XP_054214753.1  fidgetin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DVM6, Q6PIW4, Q86V18, Q8ND59, Q9H8P1, Q9H917
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