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    DIAPH1 diaphanous related formin 1 [ Homo sapiens (human) ]

    Gene ID: 1729, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DIAPH1provided by HGNC
    Official Full Name
    diaphanous related formin 1provided by HGNC
    Primary source
    HGNC:HGNC:2876
    See related
    Ensembl:ENSG00000131504 MIM:602121; AllianceGenome:HGNC:2876
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIA1; DRF1; DFNA1; LFHL1; SCBMS; hDIA1; mDia1
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 26.9), bone marrow (RPKM 25.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIAPH1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141515021..141619000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142041005..142145005, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140894588..140998567, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin gamma subfamily A, 1 Neighboring gene protocadherin gamma cluster Neighboring gene protocadherin gamma subfamily A, 2 Neighboring gene protocadherin gamma subfamily A, 3 Neighboring gene protocadherin gamma subfamily B, 1 Neighboring gene protocadherin gamma subfamily A, 4 Neighboring gene protocadherin gamma subfamily B, 2 Neighboring gene protocadherin gamma subfamily A, 5 Neighboring gene protocadherin gamma subfamily B, 3 Neighboring gene protocadherin gamma subfamily A, 6 Neighboring gene protocadherin gamma subfamily A, 7 Neighboring gene protocadherin gamma subfamily B, 4 Neighboring gene protocadherin gamma subfamily A, 8 Neighboring gene protocadherin gamma subfamily B, 5 Neighboring gene protocadherin gamma subfamily A, 9 Neighboring gene protocadherin gamma subfamily B, 6 Neighboring gene protocadherin gamma subfamily A, 10 Neighboring gene protocadherin gamma subfamily A, 11 Neighboring gene protocadherin gamma subfamily B, 7 Neighboring gene protocadherin gamma subfamily A, 12 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:140864468-140864695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23299 Neighboring gene RNA, 7SL, cytoplasmic 68, pseudogene Neighboring gene protocadherin gamma subfamily C, 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23300 Neighboring gene protocadherin gamma subfamily C, 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:140888408-140888908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23304 Neighboring gene protocadherin gamma subfamily C, 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140893101-140893726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140893727-140894352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140894353-140894978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140895605-140896230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140896231-140896856 Neighboring gene uncharacterized LOC124901091 Neighboring gene Sharpr-MPRA regulatory region 13534 Neighboring gene MPRA-validated peak5501 silencer Neighboring gene Sharpr-MPRA regulatory region 13738 Neighboring gene DIAPH1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23307 Neighboring gene RPS27A pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23308 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:140998145-140998341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23309 Neighboring gene Sharpr-MPRA regulatory region 64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23311 Neighboring gene histone deacetylase 3 Neighboring gene FCH and double SH3 domains 1 Neighboring gene RELT like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. Ganaha A, et al. Am J Med Genet A, 2017 Oct. PMID 28815995
    2. Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1). Lakha R, et al. Biochemistry, 2021 Jul 27. PMID 34279089, Free PMC Article
    3. DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease. Kundishora AJ, et al. JAMA Neurol, 2021 Aug 1. PMID 34125151, Free PMC Article
    4. DIAPH1 regulates chromosomal instability of cancer cells by controlling microtubule dynamics. Miao S, et al. Eur J Cell Biol, 2021 Apr. PMID 33689956
    5. Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction. Kaustio M, et al. J Allergy Clin Immunol, 2021 Aug. PMID 33662367

    See all (194) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
      Title: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
    2. Mechanisms of actin filament severing and elongation by formins.
      Title: Mechanisms of actin filament severing and elongation by formins.
    3. The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease.
      Title: The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease.
    4. Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity.
      Title: Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity.
    5. DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.
      Title: DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.
    6. An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.
      Title: An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.
    7. Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.
      Title: Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.
    8. New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia.
      Title: New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia.
    9. Circ_0044556 Promotes the Progression of Colorectal Cancer via the miR-665-Dependent Expression Regulation of Diaphanous Homolog 1.
      Title: Circ_0044556 Promotes the Progression of Colorectal Cancer via the miR-665-Dependent Expression Regulation of Diaphanous Homolog 1.
    10. Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study.
      Title: Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study.
    Submit: New GeneRIF Correction See all GeneRIFs (95)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human diaphanous homolog 1 (Drosophila) (DIAPH1) at amino acid residues 1237-1238 by the HIV-1 protease PubMed
    gag-pol HIV-1 PR is identified to have a physical interaction with diaphanous homolog 1 (DIAPH1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25265

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to histamine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to microtubule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of microtubule-based process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein diaphanous homolog 1
    Names
    mammalian diaphanous related formin 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011594.2 RefSeqGene

      Range
      5056..109035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1117

    mRNA and Protein(s)

    1. NM_001079812.3 → NP_001073280.1  protein diaphanous homolog 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, as compared to variant 1, which results in a shorter isoform (2).
      Source sequence(s)
      AK023345, AY007129, BC117257, DA593734
      Consensus CDS
      CCDS43373.1
      UniProtKB/TrEMBL
      A0RZB8
      Related
      ENSP00000428268.2, ENST00000518047.5
      Conserved Domains (5) summary
      smart00498
      Location:761 → 1198
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:589 → 691
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:265 → 455
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:75 → 259
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:514 → 560
      Spc24; Spc24 subunit of Ndc80

    2. NM_001314007.2 → NP_001300936.1  protein diaphanous homolog 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC008781, AY007129, BC143414, DA593734
      Consensus CDS
      CCDS87331.1
      UniProtKB/TrEMBL
      A0A1E1ERW3, A0A2R8Y5N1
      Related
      ENSP00000494675.1, ENST00000647433.1
      Conserved Domains (5) summary
      smart00498
      Location:770 → 1207
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598 → 700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274 → 464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84 → 268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523 → 569
      Spc24; Spc24 subunit of Ndc80

    3. NM_005219.5 → NP_005210.3  protein diaphanous homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_005210.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB209482, AY007129, AY363395, DA593734
      Consensus CDS
      CCDS43374.1
      UniProtKB/Swiss-Prot
      A6NF18, B7ZKW2, E9PEZ2, O60610, Q17RN4, Q59FH8, Q9UC76
      UniProtKB/TrEMBL
      Q6URC4
      Related
      ENSP00000373706.4, ENST00000389054.8
      Conserved Domains (5) summary
      smart00498
      Location:770 → 1207
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598 → 700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274 → 464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84 → 268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523 → 569
      Spc24; Spc24 subunit of Ndc80

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      141515021..141619000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416885.1 → XP_047272841.1  protein diaphanous homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q6URC4

    2. XM_047416884.1 → XP_047272840.1  protein diaphanous homolog 1 isoform X1

      UniProtKB/TrEMBL
      A0RZB8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      142041005..142145005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351937.1 → XP_054207912.1  protein diaphanous homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q6URC4

    2. XM_054351936.1 → XP_054207911.1  protein diaphanous homolog 1 isoform X1

      UniProtKB/TrEMBL
      A0RZB8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60610.2 GenPept UniProtKB/Swiss-Prot:O60610

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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