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Gene: DIAPH1 (diaphanous related formin 1) Chlorocebus sabaeus

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Symbol:

DIAPH1

Name:

diaphanous related formin 1

RGD ID:

18363516

Description:

ENCODES a protein that exhibits identical protein binding (ortholog); profilin binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); actin filament polymerization (ortholog); actin nucleation (ortholog); PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); autosomal dominant nonsyndromic deafness 1 (ortholog); autosomal recessive nonsyndromic deafness 9 (ortholog); FOUND IN brush border (ortholog); cytoplasm (ortholog); microtubule cytoskeleton (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

protein diaphanous homolog 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	44,139,495 - 44,244,505 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	44,139,360 - 44,244,490 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	33,608,326 - 33,713,597 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	sensorineural hearing loss	susceptibility	ISO	RGD:1321771	9068941	autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation	RGD	PMID:9360932\|REF_RGD_ID:1601058

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532
DIAPH1	Green Monkey	autosomal dominant nonsyndromic deafness 1		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA \| ClinVar more ...	ClinVar	PMID:16199547\|PMID:17576681\|PMID:22938506\|PMID:23804846\|PMID:24033266\|PMID:24781755\|PMID:25342930\|PMID:25558065\|PMID:25640679\|PMID:25741868\|PMID:26011067\|PMID:26463574\|PMID:26467025\|PMID:26912466\|PMID:27707755\|PMID:27808407\|PMID:27911912\|PMID:28492532\|PMID:28815995\|PMID:28983057\|PMID:29758562\|PMID:30311386\|PMID:30896630\|PMID:32678080\|PMID:33057194\|PMID:33176815\|PMID:33229591\|PMID:33662367\|PMID:34125151\|PMID:34279089\|PMID:34515852\|PMID:35307828\|PMID:35982159\|PMID:36118902\|PMID:37086329\|PMID:9360932\|PMID:9536098
DIAPH1	Green Monkey	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	ClinVar
DIAPH1	Green Monkey	benign neonatal seizures		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Neonatal seizure	ClinVar
DIAPH1	Green Monkey	beta-mannosidosis		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Beta-D-mannosidosis	ClinVar	PMID:28492532\|PMID:30311386
DIAPH1	Green Monkey	Deafness		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Deafness	ClinVar	PMID:25741868\|PMID:26463574
DIAPH1	Green Monkey	Developmental Disabilities		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:24781755\|PMID:25558065\|PMID:25741868
DIAPH1	Green Monkey	epilepsy		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Seizure Disorders	ClinVar	PMID:24781755\|PMID:25558065\|PMID:25741868
DIAPH1	Green Monkey	epilepsy		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Seizure Disorders	ClinVar	PMID:24781755\|PMID:25558065\|PMID:25741868\|PMID:25741916
DIAPH1	Green Monkey	Failure to Thrive		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Failure to thrive	ClinVar	PMID:24781755\|PMID:25558065\|PMID:25741868
DIAPH1	Green Monkey	familial adenomatous polyposis 1		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Familial adenomatous polyposis 1	ClinVar	PMID:17963004\|PMID:18487285\|PMID:19279422\|PMID:19409520\|PMID:20685668\|PMID:21643010\|PMID:28492532
DIAPH1	Green Monkey	genetic disease		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:22938506\|PMID:24033266\|PMID:25741868\|PMID:28492532\|PMID:33057194
DIAPH1	Green Monkey	Hearing Loss		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Hearing impairment \| ClinVar Annotator: match by term: Nonsyndromic Hearing more ...	ClinVar	PMID:24033266\|PMID:24781755\|PMID:25741868\|PMID:26463574\|PMID:28492532\|PMID:30311386\|PMID:32581362
DIAPH1	Green Monkey	Hereditary Neoplastic Syndromes		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:17963004\|PMID:18487285\|PMID:19279422\|PMID:19409520\|PMID:20685668\|PMID:21643010\|PMID:28492532
DIAPH1	Green Monkey	microcephaly		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:24781755\|PMID:25558065\|PMID:25741868\|PMID:28492532\|PMID:34515852
DIAPH1	Green Monkey	Neurodevelopmental Disorders		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
DIAPH1	Green Monkey	Pendred syndrome		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Pendred syndrome	ClinVar	PMID:30311386
DIAPH1	Green Monkey	Seizures, Cortical Blindness, and Microcephaly Syndrome		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:16199547\|PMID:17576681\|PMID:22938506\|PMID:23804846\|PMID:24033266\|PMID:24781755\|PMID:25342930\|PMID:25558065\|PMID:25640679\|PMID:25741868\|PMID:26011067\|PMID:26463574\|PMID:26467025\|PMID:26912466\|PMID:27707755\|PMID:27808407\|PMID:27911912\|PMID:28492532\|PMID:28815995\|PMID:28983057\|PMID:29758562\|PMID:30311386\|PMID:30896630\|PMID:32678080\|PMID:33057194\|PMID:33176815\|PMID:33229591\|PMID:33662367\|PMID:34125151\|PMID:34279089\|PMID:34515852\|PMID:35307828\|PMID:35982159\|PMID:36118902\|PMID:37086329\|PMID:9360932\|PMID:9536098
DIAPH1	Green Monkey	vascular dementia		ISO	RGD:1321771	8554872	ClinVar Annotator: match by term: Vascular dementia	ClinVar	PMID:28492532\|PMID:35307828

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	autosomal dominant nonsyndromic deafness 1		ISO	RGD:1321771	7240710		OMIM
DIAPH1	Green Monkey	Seizures, Cortical Blindness, and Microcephaly Syndrome		ISO	RGD:1321771	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	actin cytoskeleton organization	involved_in	IEA	InterPro:IPR010473	150520179		InterPro	GO_REF:0000002
DIAPH1	Green Monkey	actin cytoskeleton organization	acts_upstream_of_or_within	ISO	RGD:1321772	9068941	PMID:9214622	MGI	PMID:9214622
DIAPH1	Green Monkey	actin filament polymerization	involved_in	IEA	PANTHER:PTN000575501	150520179		TreeGrafter	GO_REF:0000118
DIAPH1	Green Monkey	actin filament polymerization	acts_upstream_of_or_within	ISO	RGD:1321772	9068941	PMID:14992721	MGI	PMID:14992721
DIAPH1	Green Monkey	actin nucleation	acts_upstream_of_or_within	ISO	RGD:1321772	9068941	PMID:21278336	MGI	PMID:21278336
DIAPH1	Green Monkey	axon midline choice point recognition	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Green Monkey	brain development	involved_in	ISO	RGD:1321772	9068941	PMID:24781755	UniProt	PMID:24781755
DIAPH1	Green Monkey	cellular response to histamine	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	cytoskeleton organization	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	ephrin receptor signaling pathway	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Green Monkey	gene expression	acts_upstream_of_or_within	ISO	RGD:1321772	9068941	PMID:21278336	MGI	PMID:21278336
DIAPH1	Green Monkey	multicellular organismal locomotion	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Green Monkey	negative regulation of neuron projection regeneration	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Green Monkey	neuron projection development	involved_in	ISO	RGD:1321772	9068941	PMID:18572016	UniProt	PMID:18572016
DIAPH1	Green Monkey	neuron projection retraction	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Green Monkey	positive regulation of cell migration		ISO	RGD:1310707	9068941		RGD	PMID:16943426\|REF_RGD_ID:1601059
DIAPH1	Green Monkey	protein localization	acts_upstream_of_or_within	ISO	MGI:1858500	9068941	PMID:23890216	MGI	PMID:23890216
DIAPH1	Green Monkey	protein localization to microtubule	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	regulation of cell shape	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	regulation of cytoskeleton organization	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	regulation of microtubule-based process	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	regulation of release of sequestered calcium ion into cytosol	involved_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	synaptic vesicle endocytosis	involved_in	ISO	RGD:1321772	9068941	PMID:28231467	SynGO	PMID:28231467

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	actin filament	located_in	IEA	PANTHER:PTN000575501	150520179		TreeGrafter	GO_REF:0000118
DIAPH1	Green Monkey	brush border	located_in	ISO	RGD:1321772	9068941	PMID:22114352	UniProt	PMID:22114352
DIAPH1	Green Monkey	cytoplasm	located_in	ISO	RGD:1321772	9068941	PMID:23558171	UniProt	PMID:23558171
DIAPH1	Green Monkey	microtubule cytoskeleton	located_in	ISO	RGD:14198523	9068941	PMID:15123714	BHF-UCL	PMID:15123714
DIAPH1	Green Monkey	mitotic spindle	located_in	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107
DIAPH1	Green Monkey	neuron projection	located_in	ISO	RGD:1321772	9068941	PMID:18572016	UniProt	PMID:18572016
DIAPH1	Green Monkey	nucleus	located_in	ISO	RGD:1321772	9068941	PMID:23558171	UniProt	PMID:23558171
DIAPH1	Green Monkey	ruffle membrane	located_in	ISO	RGD:1321772	9068941	PMID:9214622	MGI	PMID:9214622
DIAPH1	Green Monkey	spindle microtubule	located_in	ISO	RGD:14198523	9068941	PMID:15123714	BHF-UCL	PMID:15123714

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	actin binding	enables	IEA	InterPro:IPR010472\|InterPro:IPR010473	150520179		InterPro	GO_REF:0000002
DIAPH1	Green Monkey	identical protein binding	enables	ISO	UniProtKB:O08808	9068941	PMID:10559899, PMID:12906795, PMID:16472745	IntAct	PMID:10559899\|PMID:12906795\|PMID:16472745
DIAPH1	Green Monkey	profilin binding	enables	ISO	RGD:1321772	9068941	PMID:9214622	MGI	PMID:9214622
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:Q0GNC1	9068941	PMID:21278336	MGI	PMID:21278336
DIAPH1	Green Monkey	protein binding	enables	ISO	PR:Q9QUI0	9068941	PMID:9214622	MGI	PMID:9214622
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:Q8BKX1	9068941	PMID:10814512	IntAct	PMID:10814512
DIAPH1	Green Monkey	protein binding	enables	ISO	PR:B8QI33	9068941	PMID:22266902	MGI	PMID:22266902
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:Q8C8N2	9068941	PMID:19350017	UniProt	PMID:19350017
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:P61586	9068941	PMID:9214622	IntAct	PMID:9214622
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:Q9Z0E0	9068941	PMID:18572016	UniProt	PMID:18572016
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:Q15109	9068941	PMID:18922799	IntAct	PMID:18922799
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:O00212\|UniProtKB:P08134\|UniProtKB:P61586	9068941	PMID:18218625	IntAct	PMID:18218625
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:P49593	9068941	PMID:18230650	IntAct	PMID:18230650
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:Q9Q2G4	9068941	PMID:22190034	IntAct	PMID:22190034
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:O00212\|UniProtKB:P08134	9068941	PMID:33961781	IntAct	PMID:33961781
DIAPH1	Green Monkey	protein binding	enables	ISO	UniProtKB:P46940	9068941	PMID:17620407	IntAct	PMID:17620407
DIAPH1	Green Monkey	small GTPase binding	enables	IEA	InterPro:IPR010473	150520179		InterPro	GO_REF:0000002
DIAPH1	Green Monkey	transmembrane transporter binding	enables	IEA	UniProtKB:O60610\|ensembl:ENSP00000373706	150520179		Ensembl	GO_REF:0000107

Imported Annotations - PID (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DIAPH1	Green Monkey	E-cadherin signaling pathway		ISO	RGD:1321771	9068941		PID	PID:200182

PMID:22301074	PMID:30032202

DIAPH1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	44,139,495 - 44,244,505 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	44,139,360 - 44,244,490 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	33,608,326 - 33,713,597 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

DIAPH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	141,515,021 - 141,619,000 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,515,016 - 141,619,055 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,894,588 - 140,998,567 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,874,772 - 140,978,747 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,874,772 - 140,978,691	NCBI
Celera	5	136,971,324 - 137,075,350 (-)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	136,039,428 - 136,143,262 (-)	NCBI		HuRef
CHM1_1	5	140,327,865 - 140,431,904 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	142,041,005 - 142,145,005 (-)	NCBI		T2T-CHM13v2.0

Diaph1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	37,976,654 - 38,068,573 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	37,976,654 - 38,068,529 (-)	Ensembl		GRCm39 Ensembl
GRCm38	18	37,843,601 - 37,935,622 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	37,843,601 - 37,935,476 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	38,004,478 - 38,095,065 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	37,970,798 - 38,061,385 (-)	NCBI		MGSCv36	mm8
Celera	18	39,188,303 - 39,278,736 (-)	NCBI		Celera
Cytogenetic Map	18	B3	NCBI
cM Map	18	19.71	NCBI

Diaph1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	29,920,889 - 30,020,280 (-)	NCBI		GRCr8
mRatBN7.2	18	29,669,659 - 29,769,070 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	29,669,659 - 29,769,172 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	29,773,984 - 29,873,376 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	30,535,964 - 30,635,353 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	29,871,305 - 29,970,698 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	30,972,907 - 31,071,371 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	30,972,907 - 31,071,371 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	30,663,859 - 30,762,658 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	30,757,191 - 30,855,548 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	30,784,366 - 30,882,101 (-)	NCBI
Celera	18	29,313,748 - 29,412,995 (-)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

Diaph1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955415	12,156,152 - 12,272,961 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955415	12,156,152 - 12,272,961 (+)	NCBI	ChiLan1.0	ChiLan1.0

DIAPH1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	136,764,381 - 136,867,993 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	134,960,673 - 135,007,628 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	136,876,396 - 136,980,097 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	142,990,248 - 143,092,558 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

DIAPH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	36,483,781 - 36,581,390 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	36,485,571 - 36,581,320 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	33,535,791 - 33,633,355 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	36,937,687 - 37,035,539 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	36,937,690 - 37,035,611 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	34,012,555 - 34,110,155 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	34,824,079 - 34,921,683 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	35,631,288 - 35,728,900 (-)	NCBI		UU_Cfam_GSD_1.0

Diaph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	150,974,209 - 151,071,265 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936504	12,548,452 - 12,643,399 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936504	12,548,452 - 12,645,236 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DIAPH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	143,158,585 - 143,271,147 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	143,158,691 - 143,271,110 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	149,363,162 - 149,473,567 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Diaph1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624774	739,206 - 845,272 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624774	738,717 - 845,187 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in DIAPH1
1596 total Variants

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
76	36	20	36	36	60	20


RefSeq Transcripts	XM_008014737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008014738	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008014739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008014740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008014741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008014742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008014743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_073010618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_073010619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JBLKOC010000023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000010580 ⟹ ENSCSAP00000008672

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	23	44,139,360 - 44,244,490 (-)	Ensembl

RefSeq Acc Id:

XM_008014743 ⟹ XP_008012934

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	23	44,139,495 - 44,244,502 (-)	NCBI
Vero_WHO_p1.0	NW_023666034	33,608,326 - 33,713,597 (+)	NCBI

Sequence:

show sequence

GGAGTGAGGCGTCGTCGTTGTATATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCTGCTGGCTAAAGAGCGGCTGGGCGGCGGCGGTCGCGGAGCTG
CCGGGCGGGAGCGGCGTAGGCGCGGGGTTGCCGGCCAGCGTGAACCGGGAATGGAGCCGCCCGGCGGGGGCCTGGGGCCCGGCCGCGGGACCCGGGACAAGAAAAAGGGCCGGAGCCCAGATGAGCTG
CCATCGACGGGCGGCGACGGCGGCAAATCTAAGAAATTTACTCTGAAGCGGCTCATGGCAGATGAGCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAG
AAATTCTTCTGCATCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTTCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGAAACAGCAAC
CTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAGTACTTGTACACCTCCAAGGCTGGCATGAGCCAGAAGGAGAGCTCTAAGTCTGCCATGATGTATATTCAGGAGTTGAGGTCA
GGCTTGCGGGATATGCCTCTGCTCAGCTGCCTGGAATCCCTTCGTGTGTCTCTTAACAACAACCCCGTCAGTTGGGTGCAAACATTTGGTGCTGAAGGCTTGGCCTCCTTATTGGACATTCTTAAACG
ACTTCATGATGAGAAAGAAGAGACTGCTGGGAGTTACGATAGCCGGAACAAGCATGAGATTATTCGCTGCTTGAAAGCTTTTATGAACAACAAGTTTGGAATCAAGACCATGCTGGAGACAGAAGAAG
GAATCCTACTGCTGGTCAGAGCCATGGATCCTGCTGTTCCCAACATGATGATTGATGCAGCTAAGCTGCTTTCTGCTCTTTGTATTCTACCGCAGCCAGAGGACATGAATGAAAGGGTTTTGGAGGCA
ATGACAGAAAGAGCTGAGATGGATGAAGTGGAACGTTTCCAGCCATTACTGGATGGATTAAAAAGTGGGACCACTATTGCATTGAAGGTTGGATGCCTACAGCTGATCAATGCTCTCATCACACCAGC
TGAGGAACTTGACTTCCGAGTTCACATCAGAAGTGAACTGATGCGCTTGGGGCTACATCAGGTGTTGCAGGACCTTCGAGAGATTGAAAACGAAGATATGAGAGTGCAACTAAATGTGTTTGATGAAC
AAGGGGAAGAGGATTCCTATGACCTGAAGGGACGGCTGGATGACATTCGCATGGAGATGGATGACTTTAATGAAGTCTTTCAGATTCTCTTAAACACAGTGAAGGATTCAAAGGCAGAGCCACACTTC
CTTTCCATCCTGCAACACTTACTCTTGGTCCGAAATGACTATGAGGCCAGACCTCAGTACTATAAGTTGATTGAAGAATGTATTTCCCAGATAGTTCTGCACAAGAATGGGGCTGATCCTGACTTCAA
GTGCCGTCACCTCCAGATTGAGATTGAGGGATTGATTGATCAAATGATTGATAAGACAAAGGTAGAGAAATCTGAAGCCAAAGCTGCAGAGCTGGAAAAGCAGCTGGACTCAGAGTTAACAGCCCGAC
ATGAGCTACAGGTGGAAATGAAAAAGCTGGAAAGTGACTTTGAGCAGAAGCTTCAAGATCTTCAGGGAGAAAAGGATGCACTGCATTCTGAAAAGCAACAAATTGCCACAGAGAAACAGGACCTGGAA
GCAGAGGTGTCCCAGCTCACAGGAGAGGTTGCCAAGCTGACAAAGGAACTGGAAGATGCCAAGAAAGAAATGGCTTCCCTCTCTGCGGCGGCTATTACTGTAGCTCCTTCTGTTCCTAGTAGTGCTAC
TGCTCCCCCGGCCCCTCCTTTACCTGGTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTCCTCCTCCTCCTCCTCCTCCACCTCTACCTCTTCCTCCACCTCCTTTGACTGGGAGTGTTT
GCATCTCCTCAACCCCTTCTTTACCTGGAGGTACTGCTATCCCTCCACCCCCTCCTTTGCCTGAGGGTGCTAGCATCCCTCCACCCCCTCCTTTGCCTGGGGATGTTGGCATCCCTCCACCCCCTCCT
TTGCCTGGGGATGTTGGCATCCCTCCACCCCCTCCTTTGCCTGGGGATGCTGGAATCCCCCCTCCACCTCCTCCCTTGCCAGGAGGAGCAGGAATGCCACCTCCTCCTCCCCCTCTTCCTGGTGGTCC
TGGAATCCCTCCACCTCCTCCATTTCCTGGAGGCCCTGGCATTCCTCCACCTCCACCCGGAATGGGTATGCCTCCACTTCCCCCATTTGGATTTGGAGTTCCTGCAGCCCCAGTTCTGCCATTTGGAT
TAACCCCTAAAAAGCTTTATAAGCCAGAGGTGCAGCTCCGGAGGCCAAACTGGTCCAAGCTCGTGGCTGAGGACCTCTCCCAGGACTGCTTCTGGACAAAGGTGAAGGAGGACCGCTTTGAGAACAAT
GAACTTTTCGCCAAACTTACCCTTACCTTCTCTGCCCAGACCAAGACTTCCAAAGCCAAGAAGGATCAAGAAGGTGGAGAAGAAAAGAAATCTGTGCAAAAGAAAAAAGTAAAAGAGTTAAAGGTGTT
GGATTCAAAGACAGCCCAGAATCTCTCCATCTTTTTGGGTTCCTTCCGCATGCCCTATCAAGAGATTAAGAATGTCATCCTGGAGGTGAATGAAGCTGTTCTGACTGAGTCTATGATCCAGAACCTCA
TTAAGCAAATGCCAGAGCCAGAGCAGTTAAAAATGCTTTCTGAACTGAAGGATGAATATGATGACCTGGCTGAGTCAGAGCAGTTTGGCGTGGTGATGGGCACTGTGCCCCGACTGCGGCCTCGCCTC
AATGCCATTCTCTTCAAGCTACAATTCAGCGAGCAAGTGGAGAATATCAAGCCAGAGATTGTGTCTGTCACTGCTGCATGTGAGGAGTTACGTAAGAGTGAGAGCTTTTCCAGTCTCCTAGAGATTAC
CTTGCTTGTTGGAAATTACATGAATGCTGGCTCCAGAAATGCCGGTGCTTTTGGCTTCAATATCAGCTTCCTCTGTAAGCTTCGAGACACCAAGTCCACAGATCAGAAGATGACGTTGTTGCACTTCT
TGGCTGAATTGTGTGAGAATGACTATCCTGATGTCCTCAAGTTTCCAGACGAACTTGCCCATGTGGAGAAAGCCAGCCGAGTTTCTGCTGAAAACTTGCAAAAGAACCTAGATCAGATGAAGAAACAA
ATTTCTGATGTGGAACGTGATGTTCAGAATTTCCCAGCTGCCACAGATGAAAAGGACAAGTTTGTTGAAAAAATGACCAGCTTTGTAAAGGATGCACAGGAACAGTATAACAAGCTGCGGATGATGCA
TTCTAACATGGAGACCCTCTATAAGGAGCTGGGCGATTACTTCCTCTTTGACCCCAAGAAGTTATCTGTTGAAGAATTTTTCATGGATCTTCACAATTTTCGGAATATGTTTTTGCAAGCAGTCAAGG
AGAACCAGAAGCGGCGGGAGACAGAAGAAAAGATGAGGCGAGCAAAACTAGCCAAGGAGAAGGCAGAGAAGGAGCGGCTAGAGAAGCAGCAGAAGAGAGAGCAACTCATAGACATGAATGCAGAGGGC
GATGAGACAGGTGTGATGGACAGTCTTCTAGAAGCCCTGCAGTCAGGGGCAGCATTCCGACGGAAGAGAGGGCCCCGTCAAGCCAACAGGAAGGCCGGGTGTGCCAAGGACGATGCCATGGCCGCTGT
TCCTGCCAAGGTGTCTAAGAATGAGACATTCCCCACAATCCTTGAGGAAGCCAAGGAGTTGGTTGGCCGTGCAAGCTAATGTGGGTCCTGTGACGGCGGGAACTGAGGCGGGAGCTCCTCAGCCGAGT
GGCAGACTGTCCTGCCCTGCAGCATGTGCCTAAAGGCTCAAGGGGATATTCCTCTGGGGTGGCCACTCCCACCACCCTGACCCTGTCTTTCTCTCTGGCCTGCTGCTCTCTCAACATCACATACAGCT
TCAGCGCCTGGAAGCCAGAAGGAAAGGGCAGTGTGGGGGAGGCCTGAGCCCAACCTAGCCAGCCCTGGCTGTTGTATTACCAAAGCAGGGTCCATGTTTGCTGCCTTAACCCTGTCTCCTCTCTGTTA
CTCAGAGGGCCTCATCTCAGACAAGGCCCAGCCTGCTTTTTCTCAGCCCTGACTTTCTAATGGGCTTTCCCCCCAGGTCAATCTTGCTGGATTTGTGCTTTTCTTTTGTGGTTTCTTTGGCCCTGAGA
ACAGCATGGGGCTTGTAAACCTTTGGGCAGATCCCTCCTTTCATTGCTGTCGTCTCTGCTCTTCCCTCTCCTGGCTGTGGTTATTTATTATTAGTGGTGTGGCACTGGGAGCTGCTCCTAAGGAAGCT
GGGAGCAAATCCCACCTTTACCCCACCTTCCTGGGAAAGGCCTCCAAAGCAAAGGATCTGGACCACTTTCCCTGTTGTGCTGTGGCCCAGGCCAGACAGAGCCTGTGGGCAGGCAGGCAGGGCATAGC
GACAGTGTGGGACCTGCCCCCAGCCTCCGCCATGCTTTATGCCCTTGCCTCTGTGGACCCTCTGCACCAACCCCAGGCTACTGAGCCACCTTCCCTCCTCATGCCTTCCCCGAGCTTTGGTGCATCTC
ATCTGGACTATGGGTTGTATTGTGACCATCCCAACACCTTACCCTCTGTCTACAAGGAAATGGGAGGTGGAGCCTCCTGGCTGAGAAATTGTTTTGCAAATGGATCTATTTTTATATGAAAAAAAAAT
TTTTTTAAAGAAAACTCTTCCTTCCCCCTTTCCCCTCCATAATGTAAGAAGCTTTGGTGGCAGGTTCCAGAGTTCCTGGGATTTCTCCTCACAGGCCCAATCCTGAATATGCCCCTGGACCTTCTGGA
CCCTTGAGTCCAAGGCAGATCCTCTCTCCCAGGGAATCCAACACAGGAGGAACCCCTTCTCTGGTTGAGCTGGACCAGGCCTGAGAGCGGGAGCTGTAAGACCATAGAGTTTTTATAAATGTATAAAT
GTATCAAGCCAAATGTGCAGATGCTAACTGGACATTCTGGGGAACTGGGCACCAGGAGTGCCTTCATACACTGTACCCCAGCTCTCTTTTAAAAGAGAAGTGGGAGGGCACACCAAACTGTTTGGTGT
CCCCAACCACAGGAAGCTGCAATATTCTGGCTTAGGGTGACACTTTTGTCGTCCTTGTGCCCCTCTCAGCTTTTCATCCCCAGCTAGGAAGAAAGAATGGCATTCTTGGCTTTGGCCCAAAATTAGAG
TTGTTAGAGCAAGAGAGAGCTTAGGAAGCATGGGGGCAACTATAGGTGAGGCCTTACTGCCAGGAGGGAGGGTTGTGGTTGCTGGCGCTTGTGTGTAAAGGGGCAAGAGCTGCTCCTTTGGCCTATTC
CTTGGAGGACTCTGATGCAGGGCGTCTGTTGCTCCCGTGAGTCACCTCCTCCCTGCTCGCTGACATCTGGGGCTTTGACCCTTTCTTTTTTAATCTACTTTTGCTAAGATGCATTTAATAATAAAAAA
AAAAAAAAAAGAGAGAGAGAGAGAGGTGTGGGGGACAAAATGCAAACCTATTTCCCTTGCCTCATAGGCTTCTGGGATGTCATCACCTCCAGTTTGTTGGTTTTGTTTCCAACTGTTAATAAAGCATT
GAAACAGTACTGCAG

hide sequence


Protein RefSeqs	XP_072866719	(Get FASTA)	NCBI Sequence Viewer
	XP_072866720	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000008672.1

RefSeq Acc Id:

XP_008012934 ⟸ XM_008014743

Ensembl Acc Id:

ENSCSAP00000008672 ⟸ ENSCSAT00000010580

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000012491	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000010580.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.20.40	UniProtKB/TrEMBL
	1.20.1170.10	UniProtKB/TrEMBL
	1.20.58.2220	UniProtKB/TrEMBL
	1.20.58.630	UniProtKB/TrEMBL
	1.25.10.10	UniProtKB/TrEMBL
	6.10.30.30	UniProtKB/TrEMBL
	Formin, FH3 diaphanous domain	UniProtKB/TrEMBL
InterPro	ARM-like	UniProtKB/TrEMBL
	ARM-type_fold	UniProtKB/TrEMBL
	DAD_dom	UniProtKB/TrEMBL
	DIA_GBD_sf	UniProtKB/TrEMBL
	FH2_Formin	UniProtKB/TrEMBL
	FH2_Formin_sf	UniProtKB/TrEMBL
	FH3_dom	UniProtKB/TrEMBL
	Formin_Homology_Diaphanous_sf	UniProtKB/TrEMBL
	GBD/FH3_dom	UniProtKB/TrEMBL
	GTPase-bd	UniProtKB/TrEMBL
NCBI Gene	DIAPH1	ENTREZGENE
PANTHER	PROTEIN DIAPHANOUS	UniProtKB/TrEMBL
	PTHR45691:SF4	UniProtKB/TrEMBL
Pfam	Drf_FH1	UniProtKB/TrEMBL
	Drf_FH3	UniProtKB/TrEMBL
	Drf_GBD	UniProtKB/TrEMBL
	FH2	UniProtKB/TrEMBL
PROSITE	DAD	UniProtKB/TrEMBL
	FH2	UniProtKB/TrEMBL
	GBD_FH3	UniProtKB/TrEMBL
SMART	Drf_FH3	UniProtKB/TrEMBL
	Drf_GBD	UniProtKB/TrEMBL
	FH2	UniProtKB/TrEMBL
Superfamily-SCOP	Formin homology 2 domain (FH2 domain)	UniProtKB/TrEMBL
	SSF48371	UniProtKB/TrEMBL
UniProt	A0A0D9RJ83_CHLSB	UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)