1. Gene
  2. FMNL1 - formin like 1 Gene

FMNL1 - formin like 1 Gene

Homo sapiens

Also known as FMNL; FHOD4; KW-13; C17orf1; C17orf1B

Gene ID: 752 | Gene type: protein coding

About FMNL1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,221,885-45,247,318 (from NCBI)

This gene has 11 transcripts (splice variants), 287 orthologues and 18 paralogues. Biased expression in bone marrow (RPKM 59.8), appendix (RPKM 26.8) and 11 other tissues.

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]

FMNL1 Products(2)

mRNA Protein Name
NM_001411128.1 NP_001398057.1 formin-like protein 1 isoform 2
NM_005892.4 NP_005883.3 formin-like protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables GTPase activating protein binding IDA
IDA: Inferred from direct assay
21148482 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21148482 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cortical actin cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
21834987 GOA
involved in regulation of cell shape IMP
IMP: Inferred from mutant phenotype
21834987 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FMNL1 Protein Structure

Drf_GBD

Drf_GBD: Diaphanous GTPase-binding Domain (29 - 155)

Drf_GBD

Drf_GBD: Diaphanous GTPase-binding Domain (223 - 281)

Drf_FH3

Drf_FH3: Diaphanous FH3 Domain (284 - 435)

FH2

FH2: Formin Homology 2 Domain (633 - 998)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1100 a.a.
Protein Preferred Names Protein Names

formin-like protein 1

CLL-associated antigen KW-13

FMNL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FMNL1 O95466 SRGAP2 Homo sapiens O75044 21148482
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Malignant Breast Melanoma

Malignant Melanoma Of Breast

Breast Melanoma

Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris FMNL1 VGNC VGNC:40914
Felis catus FMNL1 VGNC VGNC:62304
Macaca mulatta FMNL1 VGNC VGNC:72480
Rattus norvegicus FMNL1 RGD RGD:1311042
Mus musculus FMNL1 MGD MGI:1888994
Bos taurus FMNL1 VGNC VGNC:29046