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

Gene ID: 1729, updated on 3-Mar-2019

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
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

Genomic context

See DIAPH1 in Genome Data Viewer
Location:
5q31.3
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (141515016..141619055, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140894588..140998622, 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 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 uncharacterized LOC100505658 Neighboring gene ribosomal protein S27a 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 FunctionsWhat'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 BioSystems

  • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
    AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
  • ERBB2 Regulates Cell Motility, organism-specific biosystem (from REACTOME)
    ERBB2 Regulates Cell Motility, organism-specific biosystemActivated ERBB2 heterodimers regulate cell motility through association with MEMO1. MEMO1 retains activated RHOA GTPase and its associated protein DIAPH1 at the plasma membrane, thus linking ERBB2 ac...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • RhoA signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    RhoA signaling pathway, organism-specific biosystem
    RhoA signaling pathway
  • Shigellosis, organism-specific biosystem (from KEGG)
    Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
    Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
    Stabilization and expansion of the E-cadherin adherens junction

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
RNA binding HDA PubMed 
Rho GTPase binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to histamine IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
protein localization to microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell motility TAS
Traceable Author Statement
more info
 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule-based process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein diaphanous homolog 1

NCBI Reference Sequences (RefSeq)

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
    5001..109035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079812.2NP_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_001314007.1NP_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, ENST00000389054.7
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 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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