Q39253

EV
Gene name
CAX1
Protein name
Vacuolar cation/proton exchanger 1
Names
Ca(2+)/H(+) antiporter CAX1, Ca(2+)/H(+) exchanger 1, Protein CATION EXCHANGER 1, Protein RARE COLD INDUCIBLE 4
Species
Homo sapiens (Human)
KEGG Pathway
ath:AT2G38170
EC number
2.3.2.27: Aminoacyltransferases
Protein Class
CBL (PTHR23007)

Descriptions

The E3 ubiquitin-protein ligase CBL-B (CBL-B) is an E3 ubiquitin-protein ligase that functions as a negative regulator of T-cell activation. The expression of CBL-B in T cells causes ligand-induced down-modulation of T-cell receptors, thereby controlling the activation degree of T-cells during antigen presentation. Autoinhibition of Cbl-b involves the masking of the E2 binding site due to an interaction between the RING domain and the tyrosine kinase binding domain (TKB). The phosphorylation of Y363 results in a structural rearrangement that unblocks the E2 binding site, thereby activating the E3 ligase activity.

Autoinhibitory domains (AIDs)

1-36 (N-terminal regulatory region) EV

Target domain

56-62 (7 amino acids within the first quarter of CAX1)

Relief mechanism

PTM, Partner binding

Assay

Peptide inhibitor test, Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q39253

Entry ID Method Resolution Chain Position Source
AF-Q39253-F1 Predicted AlphaFoldDB

22 variants for Q39253

Variant ID(s) Position Change Description Diseaes Association Provenance
ENSVATH01963991 6 T>I No 1000Genomes
ENSVATH13569575 13 E>A No 1000Genomes
ENSVATH05676139 26 R>K No 1000Genomes
tmp_2_15993098_T_G 27 E>D No 1000Genomes
tmp_2_15993031_C_A 50 V>L No 1000Genomes
tmp_2_15992999_T_A 60 K>N No 1000Genomes
tmp_2_15992926_C_T 85 A>T No 1000Genomes
tmp_2_15992904_C_T 92 G>D No 1000Genomes
ENSVATH05676127 96 P>H No 1000Genomes
ENSVATH05676111 187 R>S No 1000Genomes
ENSVATH05676103 224 A>T No 1000Genomes
ENSVATH00264345 290 A>T No 1000Genomes
tmp_2_15990992_C_T 295 M>I No 1000Genomes
ENSVATH13569495 318 N>K No 1000Genomes
ENSVATH14595205 371 L>M No 1000Genomes
ENSVATH05676085 376 A>S No 1000Genomes
ENSVATH01963943 412 H>Y No 1000Genomes
tmp_2_15990258_A_T 428 I>N No 1000Genomes
ENSVATH05676048 441 A>S No 1000Genomes
ENSVATH13569431 447 Q>P No 1000Genomes
ENSVATH15231846 460 V>F No 1000Genomes
ENSVATH05676047 461 F>L No 1000Genomes

No associated diseases with Q39253

16 regional properties for Q39253

Type Name Position InterPro Accession
domain Death domain 2326 - 2420 IPR000488
domain ZU5 domain 990 - 1147 IPR000906-1
domain ZU5 domain 1149 - 1296 IPR000906-2
repeat Ankyrin repeat 47 - 138 IPR002110-1
repeat Ankyrin repeat 139 - 200 IPR002110-2
repeat Ankyrin repeat 201 - 274 IPR002110-3
repeat Ankyrin repeat 272 - 340 IPR002110-4
repeat Ankyrin repeat 338 - 406 IPR002110-5
repeat Ankyrin repeat 407 - 472 IPR002110-6
repeat Ankyrin repeat 473 - 505 IPR002110-7
repeat Ankyrin repeat 506 - 604 IPR002110-8
repeat Ankyrin repeat 604 - 670 IPR002110-9
repeat Ankyrin repeat 671 - 769 IPR002110-10
repeat Ankyrin repeat 770 - 802 IPR002110-11
domain Ankyrin-3, death domain 2334 - 2417 IPR037971
domain Ankyrin, UPA domain 1316 - 1445 IPR040745

Functions

Description
EC Number 2.3.2.27 Aminoacyltransferases
Subcellular Localization
  • Cytoplasm
  • Upon EGF stimulation, associates with endocytic vesicles
PANTHER Family PTHR23007 CBL
PANTHER Subfamily PTHR23007:SF3 E3 UBIQUITIN-PROTEIN LIGASE CBL-B
PANTHER Protein Class ligase
metabolite interconversion enzyme
PANTHER Pathway Category EGF receptor signaling pathway
c-Cbl

4 GO annotations of cellular component

Name Definition
calcium:proton antiporter complex A protein complex that enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + H+(out) = Ca2+(out) + H+(in).
plant-type vacuole A closed structure that is completely surrounded by a unit membrane, contains liquid, and retains the same shape regardless of cell cycle phase. An example of this structure is found in Arabidopsis thaliana.
plant-type vacuole membrane The lipid bilayer surrounding a vacuole that retains the same shape regardless of cell cycle phase. The membrane separates its contents from the cytoplasm of the cell. An example of this component is found in Arabidopsis thaliana.
vacuole A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol.

1 GO annotations of molecular function

Name Definition
calcium:proton antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + H+(out) = Ca2+(out) + H+(in).

11 GO annotations of biological process

Name Definition
calcium ion transmembrane transport A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cellular calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.
cellular manganese ion homeostasis Any process involved in the maintenance of an internal steady state of manganese ions at the level of a cell.
cellular zinc ion homeostasis Any process involved in the maintenance of an internal steady state of zinc ions at the level of a cell.
cold acclimation Any process that increases freezing tolerance of an organism in response to low, nonfreezing temperatures.
lithium ion transport The directed movement of lithium ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
phosphate ion homeostasis Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell.
regulation of stomatal movement Any process that modulates the frequency, rate or extent of stomatal movement.
response to salt stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q93Z81 CAX3 Vacuolar cation/proton exchanger 3 Arabidopsis thaliana (Mouse-ear cress) SS
10 20 30 40 50 60
MANSMNGRNP GGRGGNPRKG RILGIIDAIQ DAVGPPKQAA ADRRTVEKTW KLMDKVVRLC
70 80 90 100 110 120
QNPKLQLKNS PPYILDILPD TYQHLRLILS KYDDNQKLAQ LSENEYFKIY IDSLMKKSKR
130 140 150 160 170 180
AIRLFKEGKE RMYEEQSQDR RNLTKLSLIF SHMLAEIKAI FPNGQFQGDN FRITKADAAE
190 200 210 220 230 240
FWRKFFGDKT IVPWKVFRQC LHEVHQISSG LEAMALKSTI DLTCNDYISV FEFDIFTRLF
250 260 270 280 290 300
QPWGSILRNW NFLAVTHPGY MAFLTYDEVK ARLQKYSTKP GSYIFRLSCT RLGQWAIGYV
310 320 330 340 350 360
TGDGNILQTI PHNKPLFQAL IDGSREGFYL YPDGRSYNPD LTGLCEPTPH DHIKVTQEQY
370 380 390 400 410 420
ELYCEMGSTF QLCKICAEND KDVKIEPCGH LMCTSCLTAW QESDGQGCPF CRCEIKGTEP
430 440 450 460 470 480
IIVDPFDPRD EGSRCCSIID PFGMPMLDLD DDDDREESLM MNRLANVRKC TDRQNSPVTS
490 500 510 520 530 540
PGSSPLAQRR KPQPDPLQIP HLSLPPVPPR LDLIQKGIVR SPCGSPTGSP KSSPCMVRKQ
550 560 570 580 590 600
DKPLPAPPPP LRDPPPPPPE RPPPIPPDNR LSRHIHHVES VPSRDPPMPL EAWCPRDVFG
610 620 630 640 650 660
TNQLVGCRLL GEGSPKPGIT ASSNVNGRHS RVGSDPVLMR KHRRHDLPLE GAKVFSNGHL
670 680 690 700 710 720
GSEEYDVPPR LSPPPPVTTL LPSIKCTGPL ANSLSEKTRD PVEEDDDEYK IPSSHPVSLN
730 740 750 760 770 780
SQPSHCHNVK PPVRSCDNGH CMLNGTHGPS SEKKSNIPDL SIYLKGDVFD SASDPVPLPP
790 800 810 820 830 840
ARPPTRDNPK HGSSLNRTPS DYDLLIPPLG EDAFDALPPS LPPPPPPARH SLIEHSKPPG
850 860 870 880 890 900
SSSRPSSGQD LFLLPSDPFV DLASGQVPLP PARRLPGENV KTNRTSQDYD QLPSCSDGSQ
910 920 930 940 950 960
APARPPKPRP RRTAPEIHHR KPHGPEAALE NVDAKIAKLM GEGYAFEEVK RALEIAQNNV
970 980
EVARSILREF AFPPPVSPRL NL