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

    Gene ID: 1729, updated on 27-Nov-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

    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/TrEMBL
      A0RZB8
      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
      UniProtKB/TrEMBL
      A0A1E1ERW3, A0A2R8Y5N1
      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
      A6NF18, B7ZKW2, E9PEZ2, O60610, Q17RN4, Q59FH8, Q9UC76
      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: 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_047416885.1XP_047272841.1  protein diaphanous homolog 1 isoform X2

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

    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_054351937.1XP_054207912.1  protein diaphanous homolog 1 isoform X2

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