DIAPH1 - diaphanous related formin 1 Gene

Homo sapiens

Also known as DIA1; DRF1; DFNA1; LFHL1; SCBMS; hDIA1; mDia1

Gene ID: 1729 | Gene type: protein coding

About DIAPH1

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,515,021-141,619,000 (from NCBI)

This gene has 15 transcripts (splice variants), 210 orthologues, 18 paralogues and is associated with 5 phenotypes. Ubiquitous expression in lymph node (RPKM 26.9), bone marrow (RPKM 25.5) and 25 other tissues.

Summary

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DIAPH1 Products(3)

mRNA	Protein	Name
NM_001079812.3	NP_001073280.1	protein diaphanous homolog 1 isoform 2
NM_001314007.2	NP_001300936.1	protein diaphanous homolog 1 isoform 3
NM_005219.5	NP_005210.3	protein diaphanous homolog 1 isoform 1

DIAPH1 Protein Structure

Drf_GBD

Drf_FH3

Drf_FH1

FH2

Drf_DAD

0
200
400
600
800
1000
1200
1269 a.a.

Protein Preferred Names

Protein Names

protein diaphanous homolog 1

mammalian diaphanous related formin 1

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia

Konigsmark Syndrome	DFNA1
Autosomal Dominant Nonsyndromic Deafness 1	Lfhl1
Deafness, Autosomal Dominant 1	Autosomal Dominant Deafness 1
Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia	Hereditary Low Frequency Hearing Loss 1
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome
Hereditary Low-Frequency Hearing Loss	Hereditary Low-Frequency Sensorineural Hearing Loss
Lfsnhl1	Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1	Deafness, Autosomal Dominant, Type 1

Seizures, Cortical Blindness, And Microcephaly Syndrome

Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	SCBMS
Seizures, Cortical Blindness, Microcephaly Syndrome

Moyamoya Disease 1

Moyamoya Disease	Spontaneous Occlusion Of The Circle Of Willis
Mymy	Progressive Intracranial Arterial Occlusion
Moyamoya Syndrome	MYMY1
Cerebrovascular Moyamoya Disease	Moya-Moya Disease
Progressive Intracranial Occlusive Arteropathy	Idiopathic Moyamoya Disease

Rare Genetic Deafness

Rare Genetic Hearing Loss

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Cortical Blindness

Blindness, Cortical

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Subglottis Benign Neoplasm

Subglottic Tumor

Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1	AUNA1
Nsdan	Auditory Neuropathy, Autosomal Dominant, 1
Auditory Neuropathy, Nonsyndromic Dominant	Nonsyndromic Dominant Auditory Neuropathy
Nonsyndromic Auditory Neuropathy Autosomal Dominant

Visual Cortex Disease

Visual Cortex Dysfunction	Visual Cortex Disorder
Visual Cortical Disorder	Disease Of Visual Cortex

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Visual Pathway Disease

Disorder Of Visual Pathways

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Deafness, Autosomal Dominant 67

DFNA67	Autosomal Dominant Nonsyndromic Deafness 67
Autosomal Dominant Deafness 67	Deafness, Autosomal Dominant, 67
Deafness, Autosomal Dominant, Type 67

Deafness, Autosomal Recessive 101

DFNB101	Autosomal Recessive Nonsyndromic Deafness 101
Autosomal Recessive Deafness 101	Deafness, Autosomal Recessive, 101
Deafness, Autosomal Recessive, Type 101

Deafness, Autosomal Recessive 84a

DFNB84A	Deafness, Autosomal Recessive 84
Autosomal Recessive Nonsyndromic Deafness 84a	Dfnb84
Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction	Autosomal Recessive Deafness 84a
Autosomal Recessive Deafness 84a With Vestibular Dysfunction	Deafness, Autosomal Recessive, 84a
Deafness Autosomal Recessive 84	Deafness Autosomal Recessive 84a With Vestibular Dysfunction
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84	Deafness, Autosomal Recessive, Type 84a

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

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia	CAMT
Thrombocytopenia, Congenital Amegakaryocytic	Congenital Amegakaryocytic Thrombocytopenic Purpura
Thrombocytopenia Congenital Amegakaryocytic	Thrombocytopenia, Amegakaryocytic, Congenital

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Waardenburg Syndrome, Type 1

Waardenburg Syndrome Type 1	WS1
Waardenburg Syndrome Type I	Waardenburg Syndrome With Dystopia Canthorum
Waardenburg'S Syndrome Type 1	Waardenburg Syndrome 1
Waardenburg Syndrome, Type I	Waardenburg Syndrome

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147329	RAGE 229	Inhibitor	99.70%	Unkown
HY-RS03763	DIAPH1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DIAPH1	RGD	RGD:1310707
Canis familiaris	DIAPH1	VGNC	VGNC:39955
Mus musculus	DIAPH1	MGD	MGI:1194490
Macaca mulatta	DIAPH1	VGNC	VGNC:71797
Felis catus	DIAPH1	VGNC	VGNC:97401

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