Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for B9EXM2

Entry ID Method Resolution Chain Position Source
AF-B9EXM2-F1 Predicted AlphaFoldDB

No variants for B9EXM2

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for B9EXM2

1 associated diseases with B9EXM2

[MIM: 617506]: Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2)

A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269|PubMed:27264673, ECO:0000269|PubMed:27681385, ECO:0000269|PubMed:27868344, ECO:0000269|PubMed:28211982, ECO:0000269|PubMed:30368668}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269|PubMed:27264673, ECO:0000269|PubMed:27681385, ECO:0000269|PubMed:27868344, ECO:0000269|PubMed:28211982, ECO:0000269|PubMed:30368668}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for B9EXM2

Type Name Position InterPro Accession
domain Calcineurin-like phosphoesterase domain, ApaH type 59 - 249 IPR004843
domain Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase 29 - 299 IPR006186
domain Serine-threonine protein phosphatase, N-terminal 8 - 55 IPR031675

Functions

Description
EC Number 6.3.4.16 Other carbon--nitrogen ligases
Subcellular Localization
  • Plastid, chloroplast
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
chloroplast A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

3 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity Catalysis of the reaction: 2 ATP + L-glutamine + CO2 + H2O = 2 ADP + phosphate + glutamate + carbamoyl phosphate.
metal ion binding Binding to a metal ion.

4 GO annotations of biological process

Name Definition
'de novo' UMP biosynthetic process The chemical reactions and pathways resulting in the formation of UMP, uridine monophosphate, starting with the synthesis of (S)-dihydroorotate from bicarbonate; UMP biosynthesis may either occur via reduction by quinone, NAD(+) or oxygen.
arginine biosynthetic process The chemical reactions and pathways resulting in the formation of arginine, 2-amino-5-(carbamimidamido)pentanoic acid.
glutamine metabolic process The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid.
nitrogen compound metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6YV23 CARA Carbamoyl-phosphate synthase small chain, chloroplastic Oryza sativa subsp japonica (Rice) PR
P49077 PYRB Aspartate carbamoyltransferase, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
Q9LVW7 CARA Carbamoyl-phosphate synthase small chain, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MATSLSSAPT QLRPSPSPSH HRLLHRSSLL PFPRRHHHRR RRCGALSIAR ASASAKDGVT
70 80 90 100 110 120
VRRFPAAPTE GGRLAGVRKI MILGAGPIVI GQACEFDYSG TQACKALAEE GYEVVLVNSN
130 140 150 160 170 180
PATIMTDPDL AHRTYIGPMT PPLVERIIAA ERPDALLPTM GGQTALNLAV SLADSGALDR
190 200 210 220 230 240
LGVRLIGASL PAIRAAEDRQ LFKQAMDRIG LKTPPSGIGT TLEECISIAE DIGEFPLIVR
250 260 270 280 290 300
PAFTLGGTGG GIAYNRAEFE DICRAGLAAS HTQQVLVEKS LLGWKEYELE VMRDMADNVV
310 320 330 340 350 360
IICSIENIDP MGVHTGDSIT VAPAQTLTDK EYQRLRDYSV AIIREIGVEC GGSNVQFAVN
370 380 390 400 410 420
PADGEVMVIE MNPRVSRSSA LASKATGFPI AKMAAKLSVG YTLDQIPNDI TKKTPASFEP
430 440 450 460 470 480
SIDYVVTKIP RFAFEKFPGS EPVLTTQMKS VGEAMALGRT FQESFQKAVR SLETGFAGWG
490 500 510 520 530 540
CAPIKELDWD WEKLKYSLRV PNPDRIHAIY AAFKKGMRIQ DIHEISFIDK WFLTELKELV
550 560 570 580 590 600
DVEQFLISRG LDQLSKDDFY QVKRRGFSDT QIAFATSSSE TDVRLRRLAL EVAPTYKRVD
610 620 630 640 650 660
TCAAEFEANT PYMYSSYEYE CESVPTNKKK VLILGGGPNR IGQGIEFDYC CCHASFALRE
670 680 690 700 710 720
AGYETIMMNS NPETVSTDYD TSDRLYFEPL TVEDVTNVID LERPDGIIVQ FGGQTPLKLA
730 740 750 760 770 780
LPIQQYLEDK KLVSASGTGL VKIWGTSPDS IDAAEDRKRF NAILEELGIE QPKGGIARSE
790 800 810 820 830 840
SDALSIASEV GYPVVVRPSY VLGGRAMEIV YNDEKLIKYL ATAVQVDPER PVLVDKYLID
850 860 870 880 890 900
AIEIDVDALA DSVGNVVIGG IMEHIEQAGI HSGDSACSLP TRTVSAKCLD IIRSWTTKLA
910 920 930 940 950 960
KRLNVCGLMN CQYAITTSGE VFLLEANPRA SRTVPFVSKA IGHPLAKYAS LVMSGVTLPE
970 980 990 1000 1010 1020
LGYTQEVVPK HVSVKEAVLP FEKFQGCDIL LGPEMRSTGE VMGIDYEFSG AFAKAQIAAG
1030 1040 1050 1060 1070 1080
QKLPLNGTVF LSLNDLTKRH LAEIGRGFRE LGFNIIATSG TAKVLQLEGI PVEPVLKIHE
1090 1100 1110 1120 1130 1140
GRPNARDMLK NGQIQVMVIT SSGDALDSKD GLQLRRLALA YKVPIITTVD GARATIDAIK
1150 1160 1170
SLKNKSIETL ALQDYFQTTD ASQNLQAAQS AS