Q99J45

PR
Gene name
Nrbp1 (Madm, Nrbp)
Protein name
Nuclear receptor-binding protein
Names
HLS7-interacting protein kinase, MLF1 adapter molecule
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:192292
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

6-79 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q99J45

Entry ID Method Resolution Chain Position Source
AF-Q99J45-F1 Predicted AlphaFoldDB

16 variants for Q99J45

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388744790 43 P>T No EVA
rs3388758030 96 W>G No EVA
rs3388755625 99 V>L No EVA
rs3388748858 129 I>N No EVA
rs3388726470 145 R>M No EVA
rs3388749316 192 H>R No EVA
rs3388752452 201 G>W No EVA
rs3388737121 210 I>T No EVA
rs3395044181 293 Q>* No EVA
rs3388748878 348 I>N No EVA
rs3388741855 370 P>A No EVA
rs3388751874 387 A>T No EVA
rs256981781 453 S>P No EVA
rs3388755613 463 T>I No EVA
rs233392650 502 A>S No EVA
rs217182298 521 T>N No EVA

1 associated diseases with Q99J45

[MIM: 615224]: Advanced sleep phase syndrome, familial, 2 (FASPS2)

An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269|PubMed:15800623, ECO:0000269|PubMed:23636092}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269|PubMed:15800623, ECO:0000269|PubMed:23636092}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q99J45

Type Name Position InterPro Accession
domain Protein kinase domain 9 - 287 IPR000719
active_site Serine/threonine-protein kinase, active site 124 - 136 IPR008271
binding_site Protein kinase, ATP binding site 15 - 38 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cell cortex
  • Endomembrane system
  • Cell projection, lamellipodium
  • Colocalizes with activated RAC3 to endomembranes and at the cell periphery in lamellipodia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endomembrane system A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.

3 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
protein homodimerization activity Binding to an identical protein to form a homodimer.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

2 GO annotations of biological process

Name Definition
endoplasmic reticulum to Golgi vesicle-mediated transport The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9UHY1 NRBP1 Nuclear receptor-binding protein Homo sapiens (Human) PR
Q80XP9 Wnk3 Serine/threonine-protein kinase WNK3 Mus musculus (Mouse) SS
P83741 Wnk1 Serine/threonine-protein kinase WNK1 Mus musculus (Mouse) SS
Q80UE6 Wnk4 Serine/threonine-protein kinase WNK4 Mus musculus (Mouse) SS
Q3UH66 Wnk2 Serine/threonine-protein kinase WNK2 Mus musculus (Mouse) SS
Q9STK6 WNK3 Probable serine/threonine-protein kinase WNK3 Arabidopsis thaliana (Mouse-ear cress) PR
Q8RXE5 WNK10 Probable serine/threonine-protein kinase WNK10 Arabidopsis thaliana (Mouse-ear cress) PR
Q944Q0 WNK8 Serine/threonine-protein kinase WNK8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LVL5 WNK4 Probable serine/threonine-protein kinase WNK4 Arabidopsis thaliana (Mouse-ear cress) PR
Q8LST2 WNK7 Probable serine/threonine-protein kinase WNK7 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSEGESQTVV SSGSDPKVES SSLAPGLTSV SPPVTSTTSA ASPEEEEESE DESEILEESP
70 80 90 100 110 120
CGRWQKRREE VNQRNVPGID SAYLAMDTEE GVEVVWNEVQ FSERKNYKLQ EEKVRAVFDN
130 140 150 160 170 180
LIQLEHLNIV KFHKYWADVK ENKARVIFIT EYMSSGSLKQ FLKKTKKNHK TMNEKAWKRW
190 200 210 220 230 240
CTQILSALSY LHSCDPPIIH GNLTCDTIFI QHNGLIKIGS VAPDTINNHV KTCREEQKNL
250 260 270 280 290 300
HFFAPEYGEV TNVTTAVDIY SFGMCALEMA VLEIQGNGES SYVPQEAISS AIQLLEDSLQ
310 320 330 340 350 360
REFIQKCLQS EPARRPTARE LLFHPALFEV PSLKLLAAHC IVGHQHMIPE NALEEITKNM
370 380 390 400 410 420
DTSAVLAEIP AGPGREPVQT LYSQSPALEL DKFLEDVRNG IYPLTAFGLP RPQQPQQEEV
430 440 450 460 470 480
TSPVVPPSVK TPTPEPAEVE TRKVVLMQCN IESVEEGVKH HLTLLLKLED KLNRHLSCDL
490 500 510 520 530
MPNESIPDLA AELVQLGFIS EADQSRLTSL LEETLNKFNF TRNSTLNTAT VTVSS