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Entry version 191 (13 Feb 2019)
Sequence version 2 (25 Nov 2008)
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Protein

Protein diaphanous homolog 1

Gene

DIAPH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).By similarity4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • ion channel binding Source: BHF-UCL
  • Rho GTPase binding Source: InterPro
  • RNA binding Source: UniProtKB
  • signaling receptor binding Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
Biological processHearing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-6785631 ERBB2 Regulates Cell Motility
R-HSA-6798695 Neutrophil degranulation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O60610

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein diaphanous homolog 1
Alternative name(s):
Diaphanous-related formin-1
Short name:
DRF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DIAPH1
Synonyms:DIAP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000131504.15

Human Gene Nomenclature Database

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HGNCi
HGNC:2876 DIAPH1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602121 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60610

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal dominant, 1 (DFNA1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.
See also OMIM:124900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079874678P → S in DFNA1. 1 PublicationCorresponds to variant dbSNP:rs186370335EnsemblClinVar.1
Natural variantiVAR_0788621213 – 1272Missing in DFNA1; with thrombocytopenia; affects function in regulation of cytoskeleton organization. 2 PublicationsAdd BLAST60
Seizures, cortical blindness, and microcephaly syndrome (SCBMS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness.
See also OMIM:616632

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi154S → A: Partial decrease of phosphorylation. 1 Publication1
Mutagenesisi768T → A: Substantial loss of phosphorylation, no increase of phosphorylation in response to cAMP, increased stability, reduced interaction with OSBPL2 and OSBPL10 and reduced mitochondrial movement. 1 Publication1
Mutagenesisi1091T → A: Substantial loss of phosphorylation. 1 Publication1
Mutagenesisi1238T → A: Substantial loss of phosphorylation. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Epilepsy, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
1729

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DIAPH1

MalaCards human disease database

More...
MalaCardsi
DIAPH1
MIMi124900 phenotype
616632 phenotype

Open Targets

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OpenTargetsi
ENSG00000131504

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27333

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DIAPH1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001948931 – 1272Protein diaphanous homolog 1Add BLAST1272

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei7PhosphoserineCombined sources1
Modified residuei22PhosphoserineCombined sources1
Modified residuei36PhosphoserineCombined sources1
Modified residuei768Phosphothreonine1 Publication1
Modified residuei1057N6-acetyllysineCombined sources1
Modified residuei1103N6-acetyllysineCombined sources1
Modified residuei1121PhosphotyrosineBy similarity1
Modified residuei1251PhosphoserineCombined sources1
Modified residuei1254PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O60610

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O60610

MaxQB - The MaxQuant DataBase

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MaxQBi
O60610

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O60610

PeptideAtlas

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PeptideAtlasi
O60610

PRoteomics IDEntifications database

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PRIDEi
O60610

ProteomicsDB human proteome resource

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ProteomicsDBi
49484
49485 [O60610-2]

2D gel databases

USC-OGP 2-DE database

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OGPi
O60610

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O60610

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O60610

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O60610

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets (PubMed:26912466).1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Strongly expressed in ventricular and subventricular zone progenitor cells of the neocortical wall at 12 weeks post-conception.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000131504 Expressed in 228 organ(s), highest expression level in leukocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O60610 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60610 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA004916
HPA076913

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity). Interacts with the GTP-bound form of RHOA (PubMed:23325789). Interacts with RHOC, PFY1, MAPRE1, BAIAP2 and APC (By similarity). Interacts with SCAI (By similarity). Interacts with DCAF7, via FH2 domain (By similarity). Interacts with NCDN (By similarity). Interacts with OSBPL10, OSBPL2, VIM, TUBB and DYN1 (PubMed:23325789).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108073, 58 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O60610

Protein interaction database and analysis system

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IntActi
O60610, 33 interactors

Molecular INTeraction database

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MINTi
O60610

STRING: functional protein association networks

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STRINGi
9606.ENSP00000381565

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O60610

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O60610

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini84 – 449GBD/FH3PROSITE-ProRule annotationAdd BLAST366
Domaini583 – 764FH1Add BLAST182
Domaini769 – 1171FH2PROSITE-ProRule annotationAdd BLAST403
Domaini1194 – 1222DADPROSITE-ProRule annotationAdd BLAST29

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili468 – 572Sequence analysisAdd BLAST105
Coiled coili1039 – 1196Sequence analysisAdd BLAST158

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1213 – 1216Arg/Lys-rich (basic)4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain (By similarity). This autoinhibition is released upon competitive binding of an activated GTPase (By similarity). The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1924 Eukaryota
ENOG410Y29H LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159910

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293231

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051357

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60610

KEGG Orthology (KO)

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KOi
K05740

Identification of Orthologs from Complete Genome Data

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OMAi
NEDMRVQ

Database of Orthologous Groups

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OrthoDBi
1204639at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60610

TreeFam database of animal gene trees

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TreeFami
TF315383

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR014767 DAD_dom
IPR010465 Drf_DAD
IPR015425 FH2_Formin
IPR010472 FH3_dom
IPR027653 Formin_Diaph1
IPR009408 Formin_homology_1
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd

The PANTHER Classification System

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PANTHERi
PTHR23213:SF17 PTHR23213:SF17, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF06345 Drf_DAD, 1 hit
PF06346 Drf_FH1, 2 hits
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51231 DAD, 1 hit
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60610-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEPPGGSLGP GRGTRDKKKG RSPDELPSAG GDGGKSKKFT LKRLMADELE
60 70 80 90 100
RFTSMRIKKE KEKPNSAHRN SSASYGDDPT AQSLQDVSDE QVLVLFEQML
110 120 130 140 150
LDMNLNEEKQ QPLREKDIII KREMVSQYLY TSKAGMSQKE SSKSAMMYIQ
160 170 180 190 200
ELRSGLRDMP LLSCLESLRV SLNNNPVSWV QTFGAEGLAS LLDILKRLHD
210 220 230 240 250
EKEETAGSYD SRNKHEIIRC LKAFMNNKFG IKTMLETEEG ILLLVRAMDP
260 270 280 290 300
AVPNMMIDAA KLLSALCILP QPEDMNERVL EAMTERAEMD EVERFQPLLD
310 320 330 340 350
GLKSGTTIAL KVGCLQLINA LITPAEELDF RVHIRSELMR LGLHQVLQDL
360 370 380 390 400
REIENEDMRV QLNVFDEQGE EDSYDLKGRL DDIRMEMDDF NEVFQILLNT
410 420 430 440 450
VKDSKAEPHF LSILQHLLLV RNDYEARPQY YKLIEECISQ IVLHKNGADP
460 470 480 490 500
DFKCRHLQIE IEGLIDQMID KTKVEKSEAK AAELEKKLDS ELTARHELQV
510 520 530 540 550
EMKKMESDFE QKLQDLQGEK DALHSEKQQI ATEKQDLEAE VSQLTGEVAK
560 570 580 590 600
LTKELEDAKK EMASLSAAAI TVPPSVPSRA PVPPAPPLPG DSGTIIPPPP
610 620 630 640 650
APGDSTTPPP PPPPPPPPPP LPGGVCISSP PSLPGGTAIS PPPPLSGDAT
660 670 680 690 700
IPPPPPLPEG VGIPSPSSLP GGTAIPPPPP LPGSARIPPP PPPLPGSAGI
710 720 730 740 750
PPPPPPLPGE AGMPPPPPPL PGGPGIPPPP PFPGGPGIPP PPPGMGMPPP
760 770 780 790 800
PPFGFGVPAA PVLPFGLTPK KLYKPEVQLR RPNWSKLVAE DLSQDCFWTK
810 820 830 840 850
VKEDRFENNE LFAKLTLTFS AQTKTSKAKK DQEGGEEKKS VQKKKVKELK
860 870 880 890 900
VLDSKTAQNL SIFLGSFRMP YQEIKNVILE VNEAVLTESM IQNLIKQMPE
910 920 930 940 950
PEQLKMLSEL KDEYDDLAES EQFGVVMGTV PRLRPRLNAI LFKLQFSEQV
960 970 980 990 1000
ENIKPEIVSV TAACEELRKS ESFSNLLEIT LLVGNYMNAG SRNAGAFGFN
1010 1020 1030 1040 1050
ISFLCKLRDT KSTDQKMTLL HFLAELCEND YPDVLKFPDE LAHVEKASRV
1060 1070 1080 1090 1100
SAENLQKNLD QMKKQISDVE RDVQNFPAAT DEKDKFVEKM TSFVKDAQEQ
1110 1120 1130 1140 1150
YNKLRMMHSN METLYKELGE YFLFDPKKLS VEEFFMDLHN FRNMFLQAVK
1160 1170 1180 1190 1200
ENQKRRETEE KMRRAKLAKE KAEKERLEKQ QKREQLIDMN AEGDETGVMD
1210 1220 1230 1240 1250
SLLEALQSGA AFRRKRGPRQ ANRKAGCAVT SLLASELTKD DAMAAVPAKV
1260 1270
SKNSETFPTI LEEAKELVGR AS
Length:1,272
Mass (Da):141,347
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9C8273DE4748564F
GO
Isoform 2 (identifier: O60610-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-48: Missing.
     621-632: Missing.
     826-828: Missing.

Show »
Length:1,248
Mass (Da):138,907
Checksum:i7F17EB0B99DB3519
GO
Isoform 3 (identifier: O60610-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-48: Missing.

Note: No experimental confirmation available.
Show »
Length:1,263
Mass (Da):140,289
Checksum:i394E98CBBB2DDA4D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H9KV28H9KV28_HUMAN
Protein diaphanous homolog 1
DIAPH1
1,228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JH68A0A0G2JH68_HUMAN
Protein diaphanous homolog 1
DIAPH1
1,272Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5N1A0A2R8Y5N1_HUMAN
Protein diaphanous homolog 1
DIAPH1
1,250Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A140T8Z0A0A140T8Z0_HUMAN
Protein diaphanous homolog 1
DIAPH1
1,263Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4E2I7B4E2I7_HUMAN
cDNA FLJ61549, highly similar to Pr...
DIAPH1
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2W8H7C2W8_HUMAN
Protein diaphanous homolog 1
DIAPH1
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEF8A0A2R8YEF8_HUMAN
Protein diaphanous homolog 1
DIAPH1
249Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB14533 differs from that shown. Intron retention.Curated
The sequence BAD92719 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti13G → E in AAC05373 (PubMed:9360932).Curated1
Sequence conflicti609Missing in AAI17258 (PubMed:15489334).Curated1
Sequence conflicti1156R → A AA sequence (PubMed:7737110).Curated1
Sequence conflicti1157E → K in AAC05373 (PubMed:9360932).Curated1
Sequence conflicti1157E → K AA sequence (PubMed:7737110).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079874678P → S in DFNA1. 1 PublicationCorresponds to variant dbSNP:rs186370335EnsemblClinVar.1
Natural variantiVAR_0788621213 – 1272Missing in DFNA1; with thrombocytopenia; affects function in regulation of cytoskeleton organization. 2 PublicationsAdd BLAST60

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03587040 – 48Missing in isoform 2 and isoform 3. 4 Publications9
Alternative sequenceiVSP_035871621 – 632Missing in isoform 2. 3 PublicationsAdd BLAST12
Alternative sequenceiVSP_035872826 – 828Missing in isoform 2. 3 Publications3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF051782 mRNA Translation: AAC05373.1
AB209482 mRNA Translation: BAD92719.1 Different initiation.
AC008781 Genomic DNA No translation available.
BC117257 mRNA Translation: AAI17258.1
BC143413 mRNA Translation: AAI43414.1
AK023345 mRNA Translation: BAB14533.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43373.1 [O60610-3]
CCDS43374.1 [O60610-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001073280.1, NM_001079812.2 [O60610-3]
NP_005210.3, NM_005219.4 [O60610-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.529451

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389054; ENSP00000373706; ENSG00000131504 [O60610-1]
ENST00000518047; ENSP00000428268; ENSG00000131504 [O60610-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1729

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1729

UCSC genome browser

More...
UCSCi
uc063iba.1 human [O60610-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF051782 mRNA Translation: AAC05373.1
AB209482 mRNA Translation: BAD92719.1 Different initiation.
AC008781 Genomic DNA No translation available.
BC117257 mRNA Translation: AAI17258.1
BC143413 mRNA Translation: AAI43414.1
AK023345 mRNA Translation: BAB14533.1 Sequence problems.
CCDSiCCDS43373.1 [O60610-3]
CCDS43374.1 [O60610-1]
RefSeqiNP_001073280.1, NM_001079812.2 [O60610-3]
NP_005210.3, NM_005219.4 [O60610-1]
UniGeneiHs.529451

3D structure databases

ProteinModelPortaliO60610
SMRiO60610
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108073, 58 interactors
CORUMiO60610
IntActiO60610, 33 interactors
MINTiO60610
STRINGi9606.ENSP00000381565

PTM databases

iPTMnetiO60610
PhosphoSitePlusiO60610
SwissPalmiO60610

Polymorphism and mutation databases

BioMutaiDIAPH1

2D gel databases

OGPiO60610

Proteomic databases

EPDiO60610
jPOSTiO60610
MaxQBiO60610
PaxDbiO60610
PeptideAtlasiO60610
PRIDEiO60610
ProteomicsDBi49484
49485 [O60610-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1729
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389054; ENSP00000373706; ENSG00000131504 [O60610-1]
ENST00000518047; ENSP00000428268; ENSG00000131504 [O60610-3]
GeneIDi1729
KEGGihsa:1729
UCSCiuc063iba.1 human [O60610-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1729
DisGeNETi1729
EuPathDBiHostDB:ENSG00000131504.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DIAPH1
GeneReviewsiDIAPH1
HGNCiHGNC:2876 DIAPH1
HPAiHPA004916
HPA076913
MalaCardsiDIAPH1
MIMi124900 phenotype
602121 gene
616632 phenotype
neXtProtiNX_O60610
OpenTargetsiENSG00000131504
Orphaneti494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
PharmGKBiPA27333

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1924 Eukaryota
ENOG410Y29H LUCA
GeneTreeiENSGT00940000159910
HOGENOMiHOG000293231
HOVERGENiHBG051357
InParanoidiO60610
KOiK05740
OMAiNEDMRVQ
OrthoDBi1204639at2759
PhylomeDBiO60610
TreeFamiTF315383

Enzyme and pathway databases

ReactomeiR-HSA-5663220 RHO GTPases Activate Formins
R-HSA-6785631 ERBB2 Regulates Cell Motility
R-HSA-6798695 Neutrophil degranulation
SIGNORiO60610

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
DIAPH1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
DIAPH1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1729

Protein Ontology

More...
PROi
PR:O60610

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131504 Expressed in 228 organ(s), highest expression level in leukocyte
ExpressionAtlasiO60610 baseline and differential
GenevisibleiO60610 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR014767 DAD_dom
IPR010465 Drf_DAD
IPR015425 FH2_Formin
IPR010472 FH3_dom
IPR027653 Formin_Diaph1
IPR009408 Formin_homology_1
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd
PANTHERiPTHR23213:SF17 PTHR23213:SF17, 2 hits
PfamiView protein in Pfam
PF06345 Drf_DAD, 1 hit
PF06346 Drf_FH1, 2 hits
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit
SMARTiView protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51231 DAD, 1 hit
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDIAP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60610
Secondary accession number(s): A6NF18
, B7ZKW2, E9PEZ2, Q17RN4, Q59FH8, Q9UC76
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 25, 2008
Last modified: February 13, 2019
This is version 191 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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