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FIGNL1 fidgetin like 1 [ Homo sapiens (human) ]

Gene ID: 63979, updated on 24-Nov-2020

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
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

Genomic context

See FIGNL1 in Genome Data Viewer
Location:
7p12.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (50437320..50450400, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50511827..50518088, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene conserved acetylation island sequence 3 enhancer Neighboring gene IKAROS family zinc finger 1 Neighboring gene RNA, U6 small nuclear 1091, pseudogene Neighboring gene dopa decarboxylase Neighboring gene VISTA enhancer hs2059 Neighboring gene Sharpr-MPRA regulatory region 9793

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule-severing ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male meiotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule severing IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
osteoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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..18080
    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
    Q6PIW4
    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
    Q6PIW4
    UniProtKB/TrEMBL
    B3KNH6
    Related
    ENSP00000399997.1, ENST00000433017.5
    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
    Q6PIW4
    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
    Q6PIW4
    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
    Q6PIW4
    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/Swiss-Prot
    Q6PIW4
    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/Swiss-Prot
    Q6PIW4
  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/Swiss-Prot
    Q6PIW4
  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
    Q6PIW4
    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
    Q6PIW4
    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
    Q6PIW4
    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
    Q6PIW4
    Related
    ENSP00000484551.1, ENST00000611938.4
    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]
  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
    Q6PIW4
    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
    Q6PIW4
    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
    Q6PIW4
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    50437320..50450400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515470.3XP_011513772.1  fidgetin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513772.1

    UniProtKB/Swiss-Prot
    Q6PIW4
    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_024446865.1XP_024302633.1  fidgetin-like protein 1 isoform X1

    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_024446863.1XP_024302631.1  fidgetin-like protein 1 isoform X1

    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_024446864.1XP_024302632.1  fidgetin-like protein 1 isoform X1

    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_017012501.1XP_016867990.1  fidgetin-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PIW4
    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]
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