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FMNL1 formin like 1 [ Homo sapiens (human) ]

Gene ID: 752, updated on 10-Dec-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
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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)

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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_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)