DIAPH1 - diaphanous related formin 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1729

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18218625	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	15123714	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to histamine	IMP IMP: Inferred from mutant phenotype	15123714	GOA
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21834987	GOA
involved in protein localization to microtubule	IMP IMP: Inferred from mutant phenotype	15123714	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	21834987	GOA
involved in regulation of cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	26912466	GOA
involved in regulation of microtubule-based process	IMP IMP: Inferred from mutant phenotype	20937854	GOA
involved in regulation of release of sequestered calcium ion into cytosol	IMP IMP: Inferred from mutant phenotype	15123714	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitotic spindle	IDA IDA: Inferred from direct assay	15123714	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

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

DIAPH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DIAPH1	O60610	RHOA	Homo sapiens	P61586	SPR	18218625
Intra	DIAPH1	O60610	PPM1F	Homo sapiens	P49593	Filter Binding	18230650
Intra	DIAPH1	O60610	PPM1F	Homo sapiens	P49593	Anti Bait CoIP	18230650

Cross: Cross-species interaction Intra: Intraspecies interaction

DIAPH1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82415	DIAPH1 Antibody (YA2160)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147329	RAGE 229		99.89%	Unkown
HY-178926	RAGE406R	Inhibitor	/	Unkown
HY-RS03763	DIAPH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DIAPH1	NCBI