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

    Gene ID: 1729, updated on 24-Sep-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See DIAPH1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (141515016..141619055, complement)
    105.20201022 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 A, 10 Neighboring gene protocadherin gamma subfamily B, 6 Neighboring gene protocadherin gamma subfamily A, 11 Neighboring gene protocadherin gamma subfamily B, 7 Neighboring gene protocadherin gamma subfamily A, 12 Neighboring gene RNA, 7SL, cytoplasmic 68, pseudogene Neighboring gene protocadherin gamma subfamily C, 3 Neighboring gene protocadherin gamma subfamily C, 4 Neighboring gene protocadherin gamma subfamily C, 5 Neighboring gene Sharpr-MPRA regulatory region 13534 Neighboring gene Sharpr-MPRA regulatory region 13738 Neighboring gene DIAPH1 antisense RNA 1 Neighboring gene RPS27A pseudogene 10 Neighboring gene histone deacetylase 3 Neighboring gene FCH and double SH3 domains 1 Neighboring gene RELT like 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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 positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    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
    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 microtubule organizing center IEA
    Inferred from Electronic Annotation
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001079812.3NP_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/Swiss-Prot
      O60610
      Related
      ENSP00000428268.2, ENST00000518047.5
      Conserved Domains (5) summary
      smart00498
      Location:7611198
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:589691
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:265455
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:75259
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:514560
      Spc24; Spc24 subunit of Ndc80
    2. NM_001314007.2NP_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
      Related
      ENSP00000494675.1, ENST00000647433.1
      Conserved Domains (5) summary
      smart00498
      Location:7701207
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523569
      Spc24; Spc24 subunit of Ndc80
    3. NM_005219.5NP_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
      O60610
      UniProtKB/TrEMBL
      Q6URC4
      Related
      ENSP00000373706.4, ENST00000389054.8
      Conserved Domains (5) summary
      smart00498
      Location:7701207
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523569
      Spc24; Spc24 subunit of Ndc80

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      141515016..141619055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454384.1XP_024310152.1  protein diaphanous homolog 1 isoform X1

      Conserved Domains (5) summary
      pfam02181
      Location:7691145
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:429570
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_024454385.1XP_024310153.1  protein diaphanous homolog 1 isoform X2

      Conserved Domains (5) summary
      pfam02181
      Location:7601136
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:589691
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:265455
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:75259
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:420561
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_024454387.1XP_024310155.1  protein diaphanous homolog 1 isoform X4

      Conserved Domains (5) summary
      pfam02181
      Location:7471123
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:576678
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:252442
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:62246
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:407548
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_024454386.1XP_024310154.1  protein diaphanous homolog 1 isoform X3

      Conserved Domains (5) summary
      pfam02181
      Location:7571133
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:586688
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:262452
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:72256
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:417558
      SMC_N; RecF/RecN/SMC N terminal domain
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