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

Gene ID: 1729, updated on 3-Nov-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: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Drosophila homologue of Diaphanous 1 (DIAPH1) controls the metastatic potential of colon cancer cells by regulating microtubule-dependent adhesion. Lin YN, et al. Oncotarget, 2015 Jul 30. PMID 26124177, Free PMC Article
  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 (193) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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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

  2. XM_047416884.1 → XP_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_054351937.1 → XP_054207912.1  protein diaphanous homolog 1 isoform X2

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

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

Gene LinkOut

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Chemical Information
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