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    FMNL1 formin like 1 [ Homo sapiens (human) ]

    Gene ID: 752, updated on 14-Nov-2024

    Summary

    Official Symbol
    FMNL1provided by HGNC
    Official Full Name
    formin like 1provided by HGNC
    Primary source
    HGNC:HGNC:1212
    See related
    Ensembl:ENSG00000184922 MIM:604656; AllianceGenome:HGNC:1212
    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
    FMNL; FHOD4; KW-13; C17orf1; C17orf1B
    Summary
    This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in bone marrow (RPKM 59.8), appendix (RPKM 26.8) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FMNL1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (45221885..45247318)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46075604..46101052)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43299252..43324685)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43247744-43248702 Neighboring gene Sharpr-MPRA regulatory region 8248 Neighboring gene Sharpr-MPRA regulatory region 499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43249661-43250619 Neighboring gene HEXIM2 antisense RNA 2 Neighboring gene HEXIM P-TEFb complex subunit 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43250620-43251577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12282 Neighboring gene FMNL1 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43279930-43280114 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43281002-43281263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8613 Neighboring gene Sharpr-MPRA regulatory region 174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43300291-43300791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43305824-43306459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43318529-43319247 Neighboring gene FMNL1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43322845-43323015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12293 Neighboring gene MAP3K14 antisense RNA 1 Neighboring gene EF-hand calcium binding domain 15, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43333269-43334029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43339293-43339898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43339899-43340502 Neighboring gene spermatogenesis associated 32 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:43344006-43345205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43350360-43351334 Neighboring gene mitogen-activated protein kinase kinase kinase 14 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43367837-43368040 Neighboring gene Sharpr-MPRA regulatory region 11783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12298

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC1894, MGC21878, MGC133052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activating protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in actin filament severing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cortical actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in bleb IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in phagocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    formin-like protein 1
    Names
    CLL-associated antigen KW-13
    leukocyte formin

    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_001411128.1NP_001398057.1  formin-like protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008105
      Consensus CDS
      CCDS92339.1
      Related
      ENSP00000465474.2, ENST00000587489.6
    2. NM_005892.4NP_005883.3  formin-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC008105
      Consensus CDS
      CCDS11497.1
      UniProtKB/Swiss-Prot
      D2DGW2, O95466, Q6DKG5, Q6IBP3, Q86UH1, Q8N671, Q8TDH1, Q96H10
      Related
      ENSP00000329219.2, ENST00000331495.8
      Conserved Domains (3) summary
      pfam02181
      Location:633998
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:284433
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34281
      Drf_GBD; Diaphanous GTPase-binding Domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      45221885..45247318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      46075604..46101052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)