O88933

SS
Gene name
Esx1
Protein name
Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX)
Names
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:13984
EC number
Protein Class

Descriptions

IQ motif and SEC7 domain-containing protein 2 (IQSEC2, also known as BRAG1) is a guanine nucleotide exchange factor (GEF) that is highly enriched in synapses. The autoinhibition of IQSEC2 is mediated by its IQ motif, which binds to apo-CaM and folds together with its Sec7-PH tandem, leading IQSEC2 to adopt a closed conformation in the absence of Ca2+. This autoinhibition is released by calcium binding, which triggers a conformational change that exposes the DH domain for activation.

Autoinhibitory domains (AIDs)

339-372 (PF/PN motif) EV

Target domain

1-68 (N-terminal extension)

Relief mechanism

Partner binding

Assay

Split protein assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

0 structures for O88933

Entry ID Method Resolution Chain Position Source

9 variants for O88933

Variant ID(s) Position Change Description Diseaes Association Provenance
rs242156336 33 S>I No Ensembl
rs223644432 53 T>S No Ensembl
rs234290141 95 G>E No Ensembl
rs212820215 107 A>P No Ensembl
rs242215186 111 N>D No Ensembl
rs240547705 121 S>A No Ensembl
rs214606687 126 G>E No Ensembl
rs255475096 134 R>P No Ensembl
rs248366455 164 P>H No Ensembl

No associated diseases with O88933

2 regional properties for O88933

Type Name Position InterPro Accession
domain Sec7 domain 648 - 843 IPR000904
domain IQ motif and SEC7 domain-containing protein, PH domain 863 - 1000 IPR033742

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Postsynaptic density
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

7 GO annotations of biological process

Name Definition
blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.
labyrinthine layer blood vessel development The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply.
labyrinthine layer morphogenesis The process in which the labyrinthine layer of the placenta is generated and organized.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription, DNA-templated Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

24 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0JNI8 LHX9 LIM/homeobox protein Lhx9 Bos taurus (Bovine) PR
Q90881 LHX9 LIM/homeobox protein Lhx9 Gallus gallus (Chicken) PR
F1NEA7 DMBX1 Diencephalon/mesencephalon homeobox protein 1 Gallus gallus (Chicken) PR
Q90963 PRRX2 Paired mesoderm homeobox protein 2 Gallus gallus (Chicken) PR
Q8IRC7 Awh LIM/homeobox protein Awh Drosophila melanogaster (Fruit fly) PR
Q8NHV9 RHOXF1 Rhox homeobox family member 1 Homo sapiens (Human) PR
Q9NQ69 LHX9 LIM/homeobox protein Lhx9 Homo sapiens (Human) PR
O95076 ALX3 Homeobox protein aristaless-like 3 Homo sapiens (Human) PR
Q9BQY4 RHOXF2 Rhox homeobox family member 2 Homo sapiens (Human) PR
Q99811 PRRX2 Paired mesoderm homeobox protein 2 Homo sapiens (Human) PR
P50458 LHX2 LIM/homeobox protein Lhx2 Homo sapiens (Human) PR
O15266 SHOX Short stature homeobox protein Homo sapiens (Human) PR
P63013 Prrx1 Paired mesoderm homeobox protein 1 Mus musculus (Mouse) PR
Q8VIH1 Nobox Homeobox protein NOBOX Mus musculus (Mouse) PR
Q06348 Prrx2 Paired mesoderm homeobox protein 2 Mus musculus (Mouse) PR
Q9WUH2 Lhx9 LIM/homeobox protein Lhx9 Mus musculus (Mouse) PR
Q62066 Phox2a Paired mesoderm homeobox protein 2A Mus musculus (Mouse) PR
Q80W90 Lhx9 LIM/homeobox protein Lhx9 Rattus norvegicus (Rat) PR
P36198 Lhx2 LIM/homeobox protein Lhx2 Rattus norvegicus (Rat) PR
Q8L7H4 HDG4 Homeobox-leucine zipper protein HDG4 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZV65 HDG3 Homeobox-leucine zipper protein HDG3 Arabidopsis thaliana (Mouse-ear cress) PR
Q28G02 siamois Homeobox protein siamois Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q566X8 dmbx1b Diencephalon/mesencephalon homeobox protein 1-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q1LWV4 lhx9 LIM/homeobox protein Lhx9 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MESLLENPVR AVLYLKELTA IVQNQQSLIH TQRQRIDELE RRLDELSAEN RSLWEHQQLL
70 80 90 100 110 120
QAQPPPGLVP PPPSAPLPAP AVTAPAAAAA QEPLQDHGQL IPASPEPPLQ HHGQLLAQPQ
130 140 150 160 170 180
PAPSSRVQTP QSPHQHPVAP GAIADKEKER PSSCCAAAGA LLQHASPAAL GKGVLSRRPE
190 200 210 220 230 240
NETVLHQFCC PAADTEQKPA CSDLASQSDG SCAQAGGGME DSVVAAVAAG RPSAHAPKAQ
250 260 270 280 290 300
APELQQEEER PGAVGSPRAG PLRAASPGRQ QPALATALCS HTPAASEYEL SLDLKNKQIE
310 320 330 340 350 360
MLEHKYGGHL VSRRAACTIQ TAFRQYQLSK NFEKIRNSLL ESRLPRRISL RKVRAPTAES
370 380 390 400 410 420
LVAEKALLEG CGLLGLPLGR SPSLPPTFAG SLTELEDSFT EQVQSLAKSI DDALSTWSLK
430 440 450 460 470 480
TMCSLQESGA YQLHQALHPS AGQPGLETEA AAREPESGPG SGDEAGGLPQ GHSGTLMMAF
490 500 510 520 530 540
RDVTVQIANQ NISVSSSTAL SVANCLGAQT AQATAEPAAA QAEQEDTADQ EVSEVPASEQ
550 560 570 580 590 600
MDPPSEDSEA AESRAQSAQE PAVAQAVVEE AVATEAEEEE EGAKQAGKGA EAEGGDNSEQ
610 620 630 640 650 660
LSSSSASTKS AKSSSEASAA ASKEALQAVI LSLPRYHCEN PASCRSPTLS TDTLRKRLYR
670 680 690 700 710 720
IGLNLFNINP DKGIQFLISR GFIPDTPIGV AHFLLQRKGL SRQMIGEFLG NSKKQFNRDV
730 740 750 760 770 780
LDCVVDEMDF SNMELDEALR KFQAHIRVQG EAQKVERLIE AFSQRYCMCN PEVVQQFHNP
790 800 810 820 830 840
DTIFILAFAI ILLNTDMYSP NIKPDRKMML EDFIRNLRGV DDGADIPREL VVGIYERIQQ
850 860 870 880 890 900
KELKSNEDHV TYVTKVEKSI VGMKTVLSMP HRRLVCCSRL FEVTDVNKLQ KQAAHQREVF
910 920 930 940 950 960
LFNDLLVILK LCPKKKSSFT YTFCKAVGLL GMRFHLFENE YYSHGITLAT PLSGSEKKQV
970 980 990 1000 1010 1020
LHFCALGSDE MQKFVEDLKE SIAEVTELEQ IRIEWELEKQ QGTKTLSVRS AGAQGDPQSK
1030 1040 1050 1060 1070 1080
QGSPTAKREA MAGEKAAESS GEVSIHNRLQ TSQHSPKLGV ERGAPAPSPP TSPPPLPPDP
1090 1100 1110 1120 1130 1140
QPSPLREQPP PLPLPPPTPP GTLVQCQQIV KVIVLDKPCL ARMEPLLSQA LSCYASSSSD
1150 1160 1170 1180 1190
SCGSTPLRGP GSPVKVIHQP PLPPPPPPYN HPHQFCPPGS MLLRRRYSSG SRSLV