DIAPH1 (diaphanous related formin 1)

2007-02-01  

Identity

HGNC
DIAPH1
LOCATION
5q31.3
LOCUSID
1729
ALIAS
DFNA1,DIA1,DRF1,LFHL1,SCBMS,hDIA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1729
MIM: 602121
HGNC: 2876
Ensembl: ENSG00000131504

Variants:

dbSNP: 1729
ClinVar: 1729
TCGA: ENSG00000131504
COSMIC: DIAPH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131504ENST00000253811H9KV28
ENSG00000131504ENST00000389054O60610
ENSG00000131504ENST00000389057A0A140T8Z0
ENSG00000131504ENST00000398557A0A0G2JH68
ENSG00000131504ENST00000448451H7C2W8
ENSG00000131504ENST00000468119H7C2W8
ENSG00000131504ENST00000518047O60610
ENSG00000131504ENST00000523100B4E2I7
ENSG00000131504ENST00000643312H7C2W8
ENSG00000131504ENST00000647330A0A2R8YEF8
ENSG00000131504ENST00000647433A0A2R8Y5N1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
Regulation of actin cytoskeletonKEGGko04810
Focal adhesionKEGGhsa04510
Regulation of actin cytoskeletonKEGGhsa04810
ShigellosisKEGGhsa05131
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by ERBB2REACTOMER-HSA-1227986
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
ERBB2 Regulates Cell MotilityREACTOMER-HSA-6785631
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364485482024The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease.2
364485482024The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease.2
370704862023New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia.0
374005912023Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.2
375439412023An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.1
378328722023Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity.1
379037642023DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.5
370704862023New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia.0
374005912023Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.2
375439412023An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.1
378328722023Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity.1
379037642023DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.5
348220252022Circ_0044556 Promotes the Progression of Colorectal Cancer via the miR-665-Dependent Expression Regulation of Diaphanous Homolog 1.6
349684852022DIAPH1 facilitates paclitaxel-mediated cytotoxicity of ovarian cancer cells.1
351853862022Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study.1

Citation

Dessen P

DIAPH1 (diaphanous related formin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45842/teaching-explorer/css/template-card.css