Diaph1 MGI Mouse Gene Detail - MGI:1194490 - diaphanous related formin 1

Symbol

Diaph1
Name

diaphanous related formin 1
Synonyms

D18Wsu154e, Dia1, Diap1, Drf1, mDia1, p140mDia

Feature Type

protein coding gene
IDs

MGI:1194490
NCBI Gene: 13367
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr18:37976654-38068529 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 19.71 cM
Mapping Data

9 experiments

SNPs within 2kb

1834 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1194490	protein coding gene	Chr18:37976654-38068573 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024354	protein coding gene	Chr18:36261705-36357229 (-)
A/J	MGP_AJ_G0024321	protein coding gene	Chr18:35013522-35105253 (-)
AKR/J	MGP_AKRJ_G0024290	protein coding gene	Chr18:35974290-36068176 (-)
BALB/cJ	MGP_BALBcJ_G0024321	protein coding gene	Chr18:35079129-35171146 (-)
C3H/HeJ	MGP_C3HHeJ_G0024087	protein coding gene	Chr18:36040497-36134532 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024763	protein coding gene	Chr18:37561430-37656748 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022202	protein coding gene	Chr18:35030039-35125249 (-)
CAST/EiJ	MGP_CASTEiJ_G0023562	protein coding gene	Chr18:35979562-36075341 (-)
CBA/J	MGP_CBAJ_G0024057	protein coding gene	Chr18:38669663-38770940 (-)
DBA/2J	MGP_DBA2J_G0024187	protein coding gene	Chr18:34613060-34705054 (-)
FVB/NJ	MGP_FVBNJ_G0024153	protein coding gene	Chr18:34323311-34415846 (-)
LP/J	MGP_LPJ_G0024271	protein coding gene	Chr18:36323541-36422026 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024184	protein coding gene	Chr18:39931093-40024093 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024812	protein coding gene	Chr18:35838932-35933449 (-)
PWK/PhJ	MGP_PWKPhJ_G0023306	protein coding gene	Chr18:34820893-34914932 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023111	protein coding gene	Chr18:36056075-36149915 (-)
WSB/EiJ	MGP_WSBEiJ_G0023625	protein coding gene	Chr18:35739582-35833457 (-)

Human Ortholog

DIAPH1, diaphanous related formin 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DIAPH1, diaphanous related formin 1
Synonyms

DFNA1, DIA1, DRF1, hDIA1, LFHL1, mDia1, SCBMS
Links

HGNC:2876

NCBI Gene ID: 1729

neXtProt AC: NX_O60610

UniProt: O60610
Chr Location

5q31.3; chr5:141515016-141619055 (-) GRCh38

MGI Vertebrate Homology

Diaph1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: DIAPH1
Gene Tree

Diaph1

Diseases

2 with human DIAPH1 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 1 IDs autosomal dominant nonsyndromic deafness 1 DOID:0110541 ICD10CM:H90.3 OMIM:124900
				sensorineural hearing loss IDs sensorineural hearing loss DOID:10003 DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM_2006:389.11 ICD9CM_2006:389.14 ICD9CM:389.1 ICD9CM:389.10 ICD9CM:389.14 MESH:D006319 NCI:C26739 UMLS_CUI:C0018784

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

45 phenotypes from 6 alleles in 6 genetic backgrounds
7 phenotypes from multigenic genotypes
46 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

95
Chemically induced (ENU)

3
Endonuclease-mediated

3
Gene trapped

80
Targeted

8
Transgenic

1
Genomic Mutations

1 involving Diaph1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

116 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth.

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All GO Annotations

52
GO References

24

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

777
Tissues

49
cDNA Data

124
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase diaph1

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All Sequences

56
RefSeq

8
UniProt

8
CCDS

CCDS57121.1, CCDS79635.1, CCDS84377.1

Ensembl

ENSMUSG00000024456 (Evidence)
NCBI Gene

13367

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024456	Ensembl Gene Model \| MGI Sequence Detail	91876	C57BL/6J	± kb
transcript	ENSMUST00000025337	Ensembl \| MGI Sequence Detail	5596	Not Applicable
polypeptide	ENSMUSP00000025337	Ensembl \| MGI Sequence Detail	1264	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000006475 protein diaphanous homolog 1

(term hierarchy)
PDB

1V9D, 1Z2C, 2BAP, 2BNX, 2F31, 2V8F, 3EG5, 3O4X, 3OBV, 4UWX, 8RU2, 9B27, 9B3D
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR014767 Diaphanous autoregulatory (DAD) domain

IPR044933 Diaphanous, GTPase-binding domain superfamily

IPR010465 DRF autoregulatory

IPR015425 Formin, FH2 domain

IPR042201 Formin, FH2 domain superfamily

IPR010472 Formin, FH3 domain

IPR010473 Formin, GTPase-binding domain

IPR051412 Formin Homology Diaphanous subfamily

IPR014768 Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
GlyGen

O08808 1 site, 1 N-linked glycan (1 site)

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All nucleic 130

cDNA 127

Primer pair 3

Microarray probesets 5

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MGD-MRK-35685, MGI:107220

Summaries

All 123

Developmental Gene Expression 9

Gene Ontology 24

Phenotypes 46
Earliest

J:41124 Watanabe N, et al., p140mDia, a mammalian homolog of Drosophila diaphanous, is a target protein for Rho small GTPase and is a ligand for profilin. EMBO J. 1997 Jun 2;16(11):3044-56
Latest

J:357418 Sigler AL, et al., FMNL1 and mDia1 promote efficient T cell migration through complex environments via distinct mechanisms. Front Immunol. 2024;15:1467415

TSS for Diaph1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr153003	Chr18:38068482-38068503 (-)	36 bp
Tssr153002	Chr18:38068456-38068481 (-)	60 bp
Tssr153001	Chr18:38068431-38068446 (-)	90 bp
Tssr153000	Chr18:38056435-38056439 (-)	12,092 bp
Tssr152999	Chr18:38029194-38029208 (-)	39,328 bp
Tssr152998	Chr18:38027254-38027267 (-)	41,268 bp
Tssr152997	Chr18:38026426-38026464 (-)	42,084 bp
Tssr152996	Chr18:38024036-38024053 (-)	44,484 bp
Tssr152995	Chr18:38021007-38021009 (-)	47,521 bp
Tssr152994	Chr18:38010813-38010825 (-)	57,710 bp
Tssr152993	Chr18:38007400-38007433 (-)	61,112 bp
Tssr152992	Chr18:37997564-37997570 (-)	70,962 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24