DIAPH1 (diaphanous related formin 1) - Rat Genome Database

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Gene: DIAPH1 (diaphanous related formin 1) Sus scrofa
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Symbol: DIAPH1
Name: diaphanous related formin 1
RGD ID: 14198523
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 microtubule cytoskeleton; spindle microtubule; brush border (ortholog)
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: diaphanous homolog 1; protein diaphanous homolog 1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2143,158,585 - 143,271,147 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12143,158,691 - 143,271,110 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22149,363,162 - 149,473,567 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
DIAPH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2143,158,585 - 143,271,147 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12143,158,691 - 143,271,110 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22149,363,162 - 149,473,567 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DIAPH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,515,021 - 141,619,000 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,515,016 - 141,619,055 (-)EnsemblGRCh38hg38GRCh38
GRCh375140,894,588 - 140,998,567 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,874,772 - 140,978,747 (-)NCBINCBI36Build 36hg18NCBI36
Build 345140,874,772 - 140,978,691NCBI
Celera5136,971,324 - 137,075,350 (-)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5136,039,428 - 136,143,262 (-)NCBIHuRef
CHM1_15140,327,865 - 140,431,904 (-)NCBICHM1_1
T2T-CHM13v2.05142,041,005 - 142,145,005 (-)NCBIT2T-CHM13v2.0
Diaph1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,976,654 - 38,068,573 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,976,654 - 38,068,529 (-)EnsemblGRCm39 Ensembl
GRCm381837,843,601 - 37,935,622 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,843,601 - 37,935,476 (-)EnsemblGRCm38mm10GRCm38
MGSCv371838,004,478 - 38,095,065 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,970,798 - 38,061,385 (-)NCBIMGSCv36mm8
Celera1839,188,303 - 39,278,736 (-)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.71NCBI
Diaph1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,920,889 - 30,020,280 (-)NCBIGRCr8
mRatBN7.21829,669,659 - 29,769,070 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,669,659 - 29,769,172 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,773,984 - 29,873,376 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,535,964 - 30,635,353 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,871,305 - 29,970,698 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,972,907 - 31,071,371 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,972,907 - 31,071,371 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,663,859 - 30,762,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,757,191 - 30,855,548 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11830,784,366 - 30,882,101 (-)NCBI
Celera1829,313,748 - 29,412,995 (-)NCBICelera
Cytogenetic Map18p11NCBI
Diaph1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541512,156,152 - 12,272,961 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541512,156,152 - 12,272,961 (+)NCBIChiLan1.0ChiLan1.0
DIAPH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24136,764,381 - 136,867,993 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,960,673 - 135,007,628 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,876,396 - 136,980,097 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,990,248 - 143,092,558 (-)NCBIpanpan1.1PanPan1.1panPan2
DIAPH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,483,781 - 36,581,390 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,485,571 - 36,581,320 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,535,791 - 33,633,355 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,937,687 - 37,035,539 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,937,690 - 37,035,611 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1234,012,555 - 34,110,155 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,824,079 - 34,921,683 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,631,288 - 35,728,900 (-)NCBIUU_Cfam_GSD_1.0
Diaph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213150,974,209 - 151,071,265 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650412,548,452 - 12,643,399 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650412,548,452 - 12,645,236 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIAPH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12344,139,495 - 44,244,505 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2344,139,360 - 44,244,490 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603433,608,326 - 33,713,597 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Diaph1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624774739,206 - 845,272 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624774738,717 - 845,187 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DIAPH1
4583 total Variants

Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 14 12 23 3 6 3

Sequence


Ensembl Acc Id: ENSSSCT00000015724   ⟹   ENSSSCP00000015309
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl2143,171,552 - 143,271,125 (-)Ensembl
Ensembl Acc Id: ENSSSCT00000071344   ⟹   ENSSSCP00000067534
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl2143,158,585 - 143,271,147 (-)Ensembl
Ensembl Acc Id: ENSSSCT00000083080   ⟹   ENSSSCP00000066506
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl2143,223,571 - 143,271,147 (-)Ensembl
Ensembl Acc Id: ENSSSCT00000096548   ⟹   ENSSSCP00000077437
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl2143,223,702 - 143,271,147 (-)Ensembl
RefSeq Acc Id: NM_001258435   ⟹   NP_001245364
RefSeq Status: INFERRED
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.12143,160,085 - 143,270,994 (-)NCBI
Sequence:
RefSeq Acc Id: XM_021077844   ⟹   XP_020933503
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.12143,158,691 - 143,271,093 (-)NCBI
Sequence:
RefSeq Acc Id: XM_021077845   ⟹   XP_020933504
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.12143,158,691 - 143,271,110 (-)NCBI
Sequence:
RefSeq Acc Id: XP_020933504   ⟸   XM_021077845
- Peptide Label: isoform X2
- UniProtKB: A0A5G2QRI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_020933503   ⟸   XM_021077844
- Peptide Label: isoform X1
- UniProtKB: A0A5G2QRI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245364   ⟸   NM_001258435
- UniProtKB: A0A8D0W3W2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSSCP00000015309   ⟸   ENSSSCT00000015724
Ensembl Acc Id: ENSSSCP00000066506   ⟸   ENSSSCT00000083080
Ensembl Acc Id: ENSSSCP00000067534   ⟸   ENSSSCT00000071344
Ensembl Acc Id: ENSSSCP00000077437   ⟸   ENSSSCT00000096548
Protein Domains
DAD   FH2   GBD/FH3


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSSSCG00000014387 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00030023547 UniProtKB/TrEMBL
  ENSSSCG00045010189 UniProtKB/TrEMBL
  ENSSSCG00055001482 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000015724.5 UniProtKB/TrEMBL
  ENSSSCT00000071344 ENTREZGENE
  ENSSSCT00000071344.2 UniProtKB/TrEMBL
  ENSSSCT00000083080.2 UniProtKB/TrEMBL
  ENSSSCT00000096548.1 UniProtKB/TrEMBL
  ENSSSCT00030032767.1 UniProtKB/TrEMBL
  ENSSSCT00030032780.1 UniProtKB/TrEMBL
  ENSSSCT00030032793.1 UniProtKB/TrEMBL
  ENSSSCT00030032804.1 UniProtKB/TrEMBL
  ENSSSCT00045017353.1 UniProtKB/TrEMBL
  ENSSSCT00045017478.1 UniProtKB/TrEMBL
  ENSSSCT00045017590.1 UniProtKB/TrEMBL
  ENSSSCT00055002737.1 UniProtKB/TrEMBL
  ENSSSCT00055002779.1 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
  Drf_DAD 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_DAD UniProtKB/TrEMBL
  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 A0A5G2QRI9 ENTREZGENE, UniProtKB/TrEMBL
  A0A5G2R7C9_PIG UniProtKB/TrEMBL
  A0A8D0W1I3_PIG UniProtKB/TrEMBL
  A0A8D0W3G0_PIG UniProtKB/TrEMBL
  A0A8D0W3W2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D0W4F3_PIG UniProtKB/TrEMBL
  A0A8D1GZR3_PIG UniProtKB/TrEMBL
  A0A8D1H146_PIG UniProtKB/TrEMBL
  A0A8D1H246_PIG UniProtKB/TrEMBL
  A0A8D1P7Q9_PIG UniProtKB/TrEMBL
  A0A8D1PF12_PIG UniProtKB/TrEMBL
  A0A8W4FEZ8_PIG UniProtKB/TrEMBL
  F1RMT5_PIG UniProtKB/TrEMBL
VGNC ID VGNC:99632 ENTREZGENE