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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Mechanisms of actin filament severing and elongation by formins.
Title: Mechanisms of actin filament severing and elongation by formins.
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.
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.
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.
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.
Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.
Title: Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.
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.
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.
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

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 1 MedGen: C1852282 OMIM: 124900 GeneReviews: Genetic Hearing Loss Overview	not available
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MedGen: C5567650 OMIM: 616632 GeneReviews: Not available	not available

Variation

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See Variation Viewer (GRCh37.p13)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66450 (e-PCR)
- UniSTS:54534

RH92360 (e-PCR)
- UniSTS:90898

RH15897 (e-PCR)
- UniSTS:48188

WI-17153 (e-PCR)
- UniSTS:45631

D5S2318 (e-PCR)
- UniSTS:21827

SHGC-79378 (e-PCR)
- UniSTS:103273

D5S1539 (e-PCR)
- UniSTS:63340

RH78579 (e-PCR)
- UniSTS:42364

PMC115182P3 (e-PCR)
- UniSTS:270288

PMC115182P7 (e-PCR)
- UniSTS:270292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

NG_011594.2 RefSeqGene

Range

5056..109035

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1117

mRNA and Protein(s)

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
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
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