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FMNL1 formin like 1 [ Homo sapiens (human) ]

Gene ID: 752, updated on 21-Jan-2020

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
109.20191205 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 Functions

What's a GeneRIF?

Pathways from PubChem

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
molecular_function ND
No biological Data available
more info
 
profilin binding IEA
Inferred from Electronic Annotation
more info
 
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 Updated Annotation Release 109.20191205

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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