Q8K1S2

SS
Gene name
Unc5d (Unc5h4)
Protein name
Netrin receptor UNC5D
Names
Protein unc-5 homolog 4 , Protein unc-5 homolog D
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:210801
EC number
Protein Class

Descriptions

The UNC5 family proteins, initially discovered in C. elegans as an axonal guidance transmembrane receptor. The cytoplasmic domains of UNC5b are responsible for its netrin-mediated signaling events in axonal migrations, blood vessel patterning, and apoptosis. The domain organization pattern of the cytoplasmic portion of UNC5 (i.e., ZU5-UPA-DD) is also found in ankyrins, a large family of scaffold proteins responsible for the assembly of specialized membrane microdomain structures that contain ion channels, cell adhesion molecules, and cytoskeletons in diverse cells. <br>The three domains (ZU5, UPA, and DD) form a structural supramoldule, thereby locking the ZU5-UPA-DD supramodule in a closed conformation and suppressing the biological activity of UNC5b. Release of the closed conformation of the ZU5-UPA-DD supramodule leads to the activation of the receptor in the promotion of apoptosis and blood vessel patterning.

Autoinhibitory domains (AIDs)

543-686 (ZU5 domain) SS

Target domain

543-940 (ZU5-UPA-DD)

Relief mechanism

Ligand binding

Assay

687-827 (UPA domain) SS

Target domain

543-940 (ZU5-UPA-DD)

Relief mechanism

Ligand binding

Assay

851-940 (Death domain, DD domain) SS

Target domain

543-940 (ZU5-UPA-DD)

Relief mechanism

Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q8K1S2

Entry ID Method Resolution Chain Position Source
AF-Q8K1S2-F1 Predicted AlphaFoldDB

52 variants for Q8K1S2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs221908758 8 G>S No EVA
rs253153492 17 P>Q No EVA
rs237598941 26 A>T No EVA
rs250519279 29 A>V No EVA
rs3388979598 87 G>V No EVA
rs3388975965 88 E>V No EVA
rs3388982354 135 V>E No EVA
rs3388977040 136 A>V No EVA
rs3388971698 138 S>G No EVA
rs3388955056 153 A>D No EVA
rs3388954972 157 K>N No EVA
rs3388964986 168 V>I No EVA
rs246157382 175 V>M No EVA
rs3388971755 177 H>L No EVA
rs3388977025 183 G>E No EVA
rs3398000703 193 K>T* No EVA
rs3399039584 202 Q>K No EVA
rs3388975917 230 M>T No EVA
rs3388976982 244 T>N No EVA
rs3398791540 291 G>R No EVA
rs3399039626 297 I>R No EVA
rs3388932064 348 E>D No EVA
rs3388955039 359 L>P No EVA
rs3388974517 422 A>V No EVA
rs3388964987 424 T>I No EVA
rs3388965030 455 R>W No EVA
rs3398401844 462 C>W No EVA
rs3388949543 518 N>D No EVA
rs3413134875 567 L>I No EVA
rs3388964963 579 S>F No EVA
rs3388960495 599 E>A No EVA
rs3388979851 608 C>R No EVA
rs213280640 613 M>V No EVA
rs3388965018 630 S>R No EVA
rs3388982963 683 G>E No EVA
rs50789549 727 I>V No EVA
rs3388955044 739 E>D No EVA
rs45690559 755 V>I No EVA
rs3388964983 781 V>E No EVA
rs3388982378 804 Q>* No EVA
rs228506688 832 R>Q No EVA
rs3388955014 850 G>D No EVA
rs3388979854 861 R>K No EVA
rs3388982881 869 D>G No EVA
rs3388974500 890 N>I No EVA
rs3388974709 893 Y>N No EVA
rs3398857834 920 S>* No EVA
rs3398938233 920 S>* No EVA
rs3388982369 924 A>T No EVA
rs3388970993 940 E>* No EVA
rs3388970905 949 N>K No EVA
rs3388964978 955 G>E No EVA

No associated diseases with Q8K1S2

10 regional properties for Q8K1S2

Type Name Position InterPro Accession
domain Death domain 850 - 941 IPR000488
repeat Thrombospondin type-1 (TSP1) repeat 250 - 304 IPR000884-1
repeat Thrombospondin type-1 (TSP1) repeat 306 - 358 IPR000884-2
domain ZU5 domain 543 - 685 IPR000906
domain Immunoglobulin subtype 2 169 - 236 IPR003598
domain Immunoglobulin subtype 163 - 248 IPR003599
domain Immunoglobulin-like domain 164 - 242 IPR007110
domain Immunoglobulin I-set 158 - 246 IPR013098
domain UPA domain 690 - 829 IPR033772
domain UNC5D, Death domain 856 - 953 IPR042058

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cell surface The external part of the cell wall and/or plasma membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
netrin receptor activity Combining with a netrin signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

5 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell-cell adhesion via plasma-membrane adhesion molecules The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane.
pyramidal neuron differentiation The process in which a neuroblast or one of its progeny commits to a pyramidal neuron fate, migrates from the ventricular zone to the appropriate layer in the cortex and develops into a mature neuron.
regulation of neuron migration Any process that modulates the frequency, rate or extent of neuron migration.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q7T2Z5 UNC5C Netrin receptor UNC5C Gallus gallus (Chicken) SS
O95185 UNC5C Netrin receptor UNC5C Homo sapiens (Human) SS
Q6ZN44 UNC5A Netrin receptor UNC5A Homo sapiens (Human) SS
Q8IZJ1 UNC5B Netrin receptor UNC5B Homo sapiens (Human) SS
Q6UXZ4 UNC5D Netrin receptor UNC5D Homo sapiens (Human) SS
Q8K1S4 Unc5a Netrin receptor UNC5A Mus musculus (Mouse) SS
Q8K1S3 Unc5b Netrin receptor UNC5B Mus musculus (Mouse) SS
O08747 Unc5c Netrin receptor UNC5C Mus musculus (Mouse) SS
O08721 Unc5a Netrin receptor UNC5A Rattus norvegicus (Rat) SS
O08722 Unc5b Netrin receptor UNC5B Rattus norvegicus (Rat) EV
Q761X5 Unc5c Netrin receptor UNC5C Rattus norvegicus (Rat) SS
F1LW30 Unc5d Netrin receptor UNC5D Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MGTGAADGSR GARRWLPWLG LFFWAAGAAA ARGADGSEIL PDSIPSAPGT LPHFIEEPED
70 80 90 100 110 120
AYIIKSNPIA LRCKARPAMQ IFFKCNGEWV HQNEHVSEES LDESSGLKVR EVFINVTRQQ
130 140 150 160 170 180
VEDFHGPEDY WCQCVAWSHL GTSKSRKASV RIAYLRKNFE QDPQGREVPI EGMIVLHCRP
190 200 210 220 230 240
PEGVPAAEVE WLKNEEPIDS EQDENIDTRA DHNLIIRQAR LSDSGNYTCM AANIVAKRRS
250 260 270 280 290 300
LSATVVVYVN GGWSSWTEWS ACNVRCGRGW QKRSRTCTNP APLNGGAFCE GMSVQKITCT
310 320 330 340 350 360
ALCPVDGSWE VWSEWSVCSP ECEHLRIREC TAPPPRNGGK FCEGLSQESE NCTDGLCILD
370 380 390 400 410 420
KKPLHEIKPQ RWSRRGIENA SDIALYSGLG AAVVAVAVLV IGVTLYRRSH SDYGVDVIDS
430 440 450 460 470 480
SALTGGFQTF NFKTVRQGNS LLLNPAMQPD LTVSRTYSGP ICLQDPLDKE LMTESSLFNP
490 500 510 520 530 540
LSDIKVKVQS SFMVSLGVSE RAEYHGKNHS GTFPHGNNRG FSTIHPRNKT PYIQNLSSLP
550 560 570 580 590 600
TRTELRTTGV FGHLGGRLVM PNTGVSLLIP HGAIPEENSW EIYMSINQGE PSLQSDGSEV
610 620 630 640 650 660
LLSPEVTCGP PDMLVTTPFA LTIPHCADVS SEHWNIHLKK RTQQGKWEEV MSVEDESTSC
670 680 690 700 710 720
YCLLDPFACH VLLDSFGTYA LTGEPITDCA VKQLKVAVFG CMSCNSLDYN LRVYCVDNTP
730 740 750 760 770 780
CAFQEVISDE RHQGGQLLEE PKLLHFKGNT FSLQVSVLDI PPFLWRIKPF TACQEVPFSR
790 800 810 820 830 840
VWSSNRQPLH CAFSLERYTP TTTQLSCKIC IRQLKGHEQI LQVQTSILES ERETITFFAQ
850 860 870 880 890 900
EDSTFPAQTG PKAFKIPYSI RQRICATFDT PNAKGKDWQM LAQKNSINRN LSYFATQSSP
910 920 930 940 950
SAVILNLWEA RHQQDGDLDS LACALEEIGR THTKLSNITE PQIDDADFNY SRQNGL