Format

Send to:

Choose Destination

FMN1 formin 1 [ Homo sapiens (human) ]

Gene ID: 342184, updated on 13-Mar-2020

Summary

Official Symbol
FMN1provided by HGNC
Official Full Name
formin 1provided by HGNC
Primary source
HGNC:HGNC:3768
See related
Ensembl:ENSG00000248905 MIM:136535
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
LD; FMN
Summary
This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Expression
Broad expression in testis (RPKM 2.4), colon (RPKM 1.7) and 20 other tissues See more
Orthologs

Genomic context

See FMN1 in Genome Data Viewer
Location:
15q13.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (32765544..33194765, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33057745..33486934, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ARHGAP11A-SCG5 readthrough Neighboring gene uncharacterized LOC105370756 Neighboring gene secretogranin V Neighboring gene uncharacterized LOC100131315 Neighboring gene gremlin 1, DAN family BMP antagonist Neighboring gene uncharacterized LOC107984089 Neighboring gene microtubule-associated proteins 1A/1B light chain 3 beta 2-like Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 71 Neighboring gene uncharacterized LOC105370759 Neighboring gene transmembrane and coiled-coil domains 5B (pseudogene)

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

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
NHGRI GWA Catalog
Genome-wide interaction study of smoking and bladder cancer risk.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45135, MGC125288, MGC125289, DKFZp686C2281, DKFZp686G2387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
actin nucleation IEA
Inferred from Electronic Annotation
more info
 
forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
gene expression IEA
Inferred from Electronic Annotation
more info
 
hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin nucleation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ureteric bud invasion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin filament IEA
Inferred from Electronic Annotation
more info
 
adherens junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
formin-1
Names
formin (limb deformity)
limb deformity protein homolog

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_042863.1 RefSeqGene

    Range
    5020..434190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001103184.4NP_001096654.1  formin-1 isoform b

    See identical proteins and their annotated locations for NP_001096654.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC018515, AC019278, AC090877, AK127078, BC103692, BM663620
    Consensus CDS
    CCDS45209.1
    UniProtKB/Swiss-Prot
    Q68DA7
    Related
    ENSP00000333950.9, ENST00000334528.13
    Conserved Domains (2) summary
    PTZ00459
    Location:73295
    PTZ00459; mucin-associated surface protein (MASP); Provisional
    smart00498
    Location:7501147
    FH2; Formin Homology 2 Domain
  2. NM_001277313.2NP_001264242.1  formin-1 isoform a

    See identical proteins and their annotated locations for NP_001264242.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). The exon combination of this variant is inferred based on partial human and full-length orthologous transcript alignments.
    Source sequence(s)
    AC018515, AC055874, AC090098, AC090877, AI040235, AK127078, BM663620, HY009284
    Consensus CDS
    CCDS61581.1
    UniProtKB/Swiss-Prot
    Q68DA7
    Related
    ENSP00000479134.1, ENST00000616417.5
    Conserved Domains (1) summary
    smart00498
    Location:9731370
    FH2; Formin Homology 2 Domain
  3. NM_001277314.2NP_001264243.1  formin-1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several central and 3' region exons, but it includes an alternate 3' terminal exon and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has the same N-terminus but it contains a distinct and significantly shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AC019278, AC055874, AC090098, CR749487, HY009284
    Consensus CDS
    CCDS61582.1
    UniProtKB/Swiss-Prot
    Q68DA7
    Related
    ENSP00000325166.7, ENST00000320930.7

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    32765544..33194765 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521506.3XP_011519808.1  formin-1 isoform X3

    UniProtKB/TrEMBL
    H0YM30
    Related
    ENSP00000453443.1, ENST00000561249.5
    Conserved Domains (1) summary
    smart00498
    Location:8751272
    FH2; Formin Homology 2 Domain
  2. XM_011521509.3XP_011519811.1  formin-1 isoform X5

    Conserved Domains (1) summary
    smart00498
    Location:423820
    FH2; Formin Homology 2 Domain
  3. XM_017022135.2XP_016877624.1  formin-1 isoform X10

  4. XM_017022133.2XP_016877622.1  formin-1 isoform X8

  5. XM_011521504.3XP_011519806.1  formin-1 isoform X11

    See identical proteins and their annotated locations for XP_011519806.1

    UniProtKB/Swiss-Prot
    Q68DA7
    Conserved Domains (1) summary
    smart00498
    Location:9731370
    FH2; Formin Homology 2 Domain
  6. XM_017022130.2XP_016877619.1  formin-1 isoform X11

    UniProtKB/Swiss-Prot
    Q68DA7
    Conserved Domains (1) summary
    smart00498
    Location:9731370
    FH2; Formin Homology 2 Domain
  7. XM_017022134.2XP_016877623.1  formin-1 isoform X9

  8. XM_017022132.2XP_016877621.1  formin-1 isoform X6

    Related
    ENSP00000500647.1, ENST00000672206.1
  9. XM_011521511.3XP_011519813.1  formin-1 isoform X7

    Conserved Domains (1) summary
    smart00498
    Location:381778
    FH2; Formin Homology 2 Domain
  10. XM_011521505.2XP_011519807.1  formin-1 isoform X1

    Conserved Domains (1) summary
    smart00498
    Location:9731309
    FH2; Formin Homology 2 Domain
  11. XM_017022131.1XP_016877620.1  formin-1 isoform X2

  12. XM_011521507.2XP_011519809.1  formin-1 isoform X4

    Conserved Domains (1) summary
    smart00498
    Location:9731284
    FH2; Formin Homology 2 Domain

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

    Range
    4817689..4993239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_012132920.1 Reference GRCh38.p13 PATCHES

    Range
    2283958..2352906 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    4980141..5155691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198500.1: Suppressed sequence

    Description
    NM_198500.1: This RefSeq was removed because the CDS was partial, and it has been replaced by full-length RefSeq, NM_001103184.3.
Support Center