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    FMNL1 formin like 1 [ Homo sapiens (human) ]

    Gene ID: 752, updated on 17-Jun-2019

    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
    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

    Genomic context

    See FMNL1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (45220268..45247322)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43299192..43324685)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268203 Neighboring gene uncharacterized LOC105371795 Neighboring gene HEXIM P-TEFb complex subunit 2 Neighboring gene uncharacterized LOC339192 Neighboring gene uncharacterized LOC107985040 Neighboring gene MAP3K14 antisense RNA 1 Neighboring gene spermatogenesis associated 32 Neighboring gene mitogen-activated protein kinase kinase kinase 14

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1894, MGC21878, MGC133052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activating protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activating protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rac GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rac GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    profilin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament severing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cortical actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    substrate-dependent cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    bleb IEA
    Inferred from Electronic Annotation
    more info
     
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    membrane HDA PubMed 
    phagocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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)

    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_005892.4NP_005883.3  formin-like protein 1

      Status: REVIEWED

      Source sequence(s)
      AC008105
      Consensus CDS
      CCDS11497.1
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      45220268..45247322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722062.4XP_006722125.1  formin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006722125.1

      Conserved Domains (3) summary
      pfam02181
      Location:6391004
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:290439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34287
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. XM_006722064.4XP_006722127.1  formin-like protein 1 isoform X3

      Conserved Domains (3) summary
      pfam02181
      Location:629994
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:280429
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34277
      Drf_GBD; Diaphanous GTPase-binding Domain
    3. XM_006722069.3XP_006722132.1  formin-like protein 1 isoform X8

      Conserved Domains (3) summary
      pfam02181
      Location:639976
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:290439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34287
      Drf_GBD; Diaphanous GTPase-binding Domain
    4. XM_011525179.3XP_011523481.1  formin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011523481.1

      Conserved Domains (3) summary
      pfam02181
      Location:6391004
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:290439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34287
      Drf_GBD; Diaphanous GTPase-binding Domain
    5. XM_006722063.4XP_006722126.1  formin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      O95466
      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
    6. XM_006722065.4XP_006722128.1  formin-like protein 1 isoform X4

      Conserved Domains (3) summary
      pfam02181
      Location:623988
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:274423
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34271
      Drf_GBD; Diaphanous GTPase-binding Domain
    7. XM_011525182.3XP_011523484.1  formin-like protein 1 isoform X7

      Conserved Domains (3) summary
      pfam02181
      Location:6391004
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:290439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34287
      Drf_GBD; Diaphanous GTPase-binding Domain
    8. XM_006722066.4XP_006722129.1  formin-like protein 1 isoform X6

      Conserved Domains (3) summary
      pfam02181
      Location:6391004
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:290439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:34287
      Drf_GBD; Diaphanous GTPase-binding Domain
    9. XM_006722070.4XP_006722133.1  formin-like protein 1 isoform X9

      UniProtKB/Swiss-Prot
      O95466
      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
    10. XM_011525180.2XP_011523482.1  formin-like protein 1 isoform X5

      Conserved Domains (3) summary
      pfam02181
      Location:608973
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:259408
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:15256
      Drf_GBD; Diaphanous GTPase-binding Domain
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